Condition Lookup
Speciality:
Genetics
Number of Conditions: 104
Hypertension (High Blood Pressure)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Polygenic and Multifactorial Disorders
Symptoms:
often asymptomatic; headaches; shortness of breath; nosebleeds (in severe cases)
Root Cause:
Persistent elevation of blood pressure due to genetic predisposition, environmental factors, and secondary causes (e.g., kidney disease, endocrine disorders).
How it's Diagnosed: videos
Blood pressure measurements, repeated over time; additional tests for secondary causes.
Treatment:
Lifestyle changes (dietary adjustments like reduced salt intake, weight loss, exercise) and antihypertensive medications.
Medications:
Diuretics (e.g., hydrochlorothiazide ) to reduce fluid retention. ACE inhibitors (e.g., enalapril ) or ARBs (e.g., losartan ) to relax blood vessels. Calcium channel blockers (e.g., amlodipine ). Beta-blockers (e.g., propranolol ).
Prevalence:
How common the health condition is within a specific population.
Affects about 1.28 billion adults worldwide, with a higher prevalence in older populations.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, obesity, high salt intake, physical inactivity, stress, alcohol consumption, age.
Prognosis:
The expected outcome or course of the condition over time.
With proper management, patients can maintain normal blood pressure and prevent complications. Uncontrolled hypertension increases the risk of cardiovascular and renal diseases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Stroke, heart attack, heart failure, kidney failure, vision loss, aneurysms.
Neural tube defects (e.g., spina bifida, anencephaly)
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Prenatal Conditions
Symptoms:
abnormal spinal cord or brain development; open spinal cord (spina bifida); absence of major portions of the brain (anencephaly); paralysis; difficulty walking; hydrocephalus (fluid on the brain); bowel or bladder dysfunction in spina bifida
Root Cause:
Failure of the neural tube to close completely during embryonic development, typically occurring in the first month of pregnancy.
How it's Diagnosed: videos
Prenatal ultrasound, maternal blood tests measuring alpha-fetoprotein (AFP), and amniocentesis for diagnostic confirmation.
Treatment:
Prenatal surgery (for spina bifida), postnatal surgery to close defects, management of complications such as hydrocephalus, physical therapy, and assistive devices for mobility.
Medications:
Folic acid supplements are used preventively; for symptom management, antibiotics (to prevent infections) and medications for bladder or bowel dysfunction may be prescribed.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 1,000 live births worldwide, with variations depending on geographic and socioeconomic factors.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Folic acid deficiency, maternal diabetes, obesity, certain medications (e.g., antiepileptic drugs), and family history of neural tube defects.
Prognosis:
The expected outcome or course of the condition over time.
Dependent on severity; anencephaly is not compatible with life, while spina bifida outcomes vary from mild impairment to significant disability.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Hydrocephalus, infections, mobility limitations, bowel and bladder dysfunction, and lifelong disability in severe cases.
Prader-Willi Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
hypotonia (low muscle tone) in infancy; feeding difficulties in infancy; hyperphagia (excessive hunger); obesity; intellectual disabilities; behavioral problems; short stature; small hands and feet; hypogonadism; distinct facial features
Root Cause:
Caused by loss of function of genes on the paternal copy of chromosome 15, typically due to a deletion, uniparental disomy, or imprinting defect.
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation analysis to confirm abnormal imprinting on chromosome 15).
Treatment:
Multidisciplinary care, including strict dietary supervision, behavioral therapy, physical therapy, and hormone replacement therapy (e.g., growth hormone).
Medications:
Growth hormone therapy (to improve growth, body composition, and physical strength), and occasionally medications for behavioral issues (e.g., selective serotonin reuptake inhibitors [SSRIs] for compulsive behaviors or mood stabilization).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 15,000 to 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific risk factors beyond genetic inheritance patterns; sporadic occurrence.
Prognosis:
The expected outcome or course of the condition over time.
Lifespan is generally reduced due to complications of obesity or associated conditions, but with proper management, individuals can achieve a relatively good quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe obesity, type 2 diabetes, sleep apnea, cardiovascular disease, scoliosis, and behavioral issues.
Osteogenesis Imperfecta
Specialty: Genetics
Category: Connective Tissue and Skeletal Disorders
Sub-category: Skeletal Dysplasias
Symptoms:
bone fragility; frequent fractures; blue sclerae; short stature; hearing loss; loose joints
Root Cause:
Mutations in genes (e.g., COL1A1, COL1A2) affecting type I collagen synthesis, leading to brittle bones.
How it's Diagnosed: videos
Clinical evaluation, family history, genetic testing, and radiographic imaging of bones.
Treatment:
Bisphosphonates to increase bone density, physical therapy, orthopedic surgeries, and mobility aids.
Medications:
Bisphosphonates (e.g., alendronate or pamidronate ) to improve bone density; vitamin D and calcium supplements to support bone health.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 15,000 to 20,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; autosomal dominant inheritance is most common.
Prognosis:
The expected outcome or course of the condition over time.
Lifespan can be normal for milder forms; severe types may result in reduced lifespan due to respiratory or fracture complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive bone deformities, respiratory issues, reduced mobility, and hearing loss.
Congenital Diaphragmatic Hernia
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Prenatal Conditions
Symptoms:
respiratory distress after birth; pulmonary hypoplasia (underdeveloped lungs); scaphoid abdomen; cyanosis (bluish skin due to lack of oxygen); bowel sounds in the chest
Root Cause:
Defect in the diaphragm allowing abdominal organs to migrate into the chest cavity, restricting lung development.
How it's Diagnosed: videos
Prenatal ultrasound showing abnormal organ placement, fetal MRI for detailed anatomy, or postnatal imaging such as chest X-rays.
Treatment:
Surgical repair after birth, often preceded by stabilization with mechanical ventilation or extracorporeal membrane oxygenation (ECMO). Prenatal interventions (e.g., fetoscopic tracheal occlusion) are experimental.
Medications:
Surfactant therapy to improve lung function, nitric oxide to manage pulmonary hypertension, and sedatives for mechanical ventilation.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 2,500 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic syndromes, chromosomal abnormalities, maternal smoking, and exposure to environmental toxins during pregnancy.
Prognosis:
The expected outcome or course of the condition over time.
Dependent on severity and associated anomalies; survival rates are approximately 60–80% with modern interventions.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic lung disease, pulmonary hypertension, feeding difficulties, and developmental delays.
Hypertrophic Cardiomyopathy (HCM)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Cardiovascular Disorders
Symptoms:
shortness of breath; chest pain; fainting (syncope); palpitations; fatigue; sudden cardiac arrest in severe cases
Root Cause:
Genetic mutations in sarcomeric proteins lead to abnormal thickening of the heart muscle, particularly in the left ventricle, impairing normal function.
How it's Diagnosed: videos
Echocardiogram, electrocardiogram (ECG), genetic testing, cardiac MRI, and family history assessment.
Treatment:
Lifestyle changes, medications, surgical interventions (myectomy), septal ablation, or implantation of a cardioverter defibrillator (ICD).
Medications:
Beta-blockers (e.g., metoprolol ), calcium channel blockers (e.g., verapamil ), and antiarrhythmic drugs (e.g., amiodarone ). Beta-blockers help reduce heart rate and workload, while calcium channel blockers improve relaxation of the heart muscle.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 500 individuals worldwide; higher in families with known genetic mutations.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of HCM, genetic mutations in sarcomeric proteins, young age at diagnosis.
Prognosis:
The expected outcome or course of the condition over time.
Most cases can be managed effectively, but the risk of sudden cardiac death remains, especially in untreated or undiagnosed cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Arrhythmias, heart failure, stroke, and sudden cardiac death.
Long QT Syndrome
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Cardiovascular Disorders
Symptoms:
prolonged heartbeats (qt interval); palpitations; fainting; seizures; sudden cardiac arrest
Root Cause:
Genetic mutations affecting ion channels (potassium, sodium) in the heart, causing abnormal electrical signaling.
How it's Diagnosed: videos
Electrocardiogram (ECG), genetic testing, stress testing, and family history.
Treatment:
Lifestyle changes, medications, and sometimes surgical implantation of an ICD or left cardiac sympathetic denervation surgery.
Medications:
Beta-blockers (e.g., propranolol , nadolol ) to reduce the heart rate and prevent arrhythmias. In some cases, potassium supplements or antiarrhythmic drugs are used.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 2,500 individuals; can be inherited or acquired (from medication or electrolyte imbalances).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of sudden cardiac death, certain genetic mutations, use of QT-prolonging medications.
Prognosis:
The expected outcome or course of the condition over time.
Treatable if diagnosed early; untreated cases have a high risk of sudden cardiac death.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Ventricular arrhythmias, syncope, sudden cardiac arrest.
Maturity-Onset Diabetes of the Young (MODY)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Endocrine Disorders
Symptoms:
mild hyperglycemia; frequent urination; excessive thirst; unintended weight loss; fatigue; blurry vision
Root Cause:
Caused by mutations in single genes (e.g., HNF1A, HNF4A, GCK) that regulate insulin production, leading to beta-cell dysfunction in the pancreas.
How it's Diagnosed: videos
Genetic testing for MODY mutations, fasting glucose tests, HbA1c levels, and family history of early-onset diabetes.
Treatment:
Tailored to the subtype; dietary management, oral medications, or insulin therapy (depending on mutation and severity).
Medications:
Sulfonylureas (e.g., glipizide , gliclazide) are often effective in MODY caused by HNF1A or HNF4A mutations. Insulin may be required for other subtypes. GCK-MODY typically does not require treatment.
Prevalence:
How common the health condition is within a specific population.
Rare; estimated to affect 1–2% of all diabetes cases globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of early-onset diabetes without typical Type 1 or Type 2 diabetes features, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good if correctly diagnosed and treated; untreated, mild hyperglycemia may lead to long-term complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of cardiovascular disease, kidney damage, retinopathy, and misdiagnosis leading to incorrect treatment.
Huntington’s Disease
Specialty: Genetics
Category: Neurological and Neurodegenerative Disorders
Sub-category: Neurodegenerative Disorders
Symptoms:
involuntary jerking or writhing movements (chorea); muscle problems such as rigidity or muscle contracture; slow or abnormal eye movements; difficulty with speech or swallowing; cognitive impairments including difficulty organizing, prioritizing, or focusing tasks; behavioral changes such as irritability, depression, or apathy
Root Cause:
Caused by a mutation in the HTT gene, resulting in abnormal repetition of the CAG nucleotide sequence, leading to toxic accumulation of mutant huntingtin protein and progressive brain cell death.
How it's Diagnosed: videos
Clinical evaluation of symptoms, family history, genetic testing confirming the presence of expanded CAG repeats in the HTT gene. Imaging studies such as MRI or CT may show brain atrophy in advanced cases.
Treatment:
No cure exists, but symptomatic treatments include medications for chorea, psychiatric symptoms, and supportive care such as physical, occupational, and speech therapies.
Medications:
Medications include tetrabenazine and deutetrabenazine (vesicular monoamine transporter 2 inhibitors) for controlling chorea. Antidepressants like SSRIs or SNRIs and antipsychotics such as olanzapine or risperidone may be prescribed for psychiatric symptoms.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 5-10 per 100,000 people worldwide, though prevalence varies by population.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Huntington’s disease is the primary risk factor due to its autosomal dominant inheritance pattern.
Prognosis:
The expected outcome or course of the condition over time.
Progressive and ultimately fatal. Life expectancy after onset is approximately 15-20 years.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Include severe disability, aspiration pneumonia, weight loss, depression, suicide, and heart failure.
Coronary Artery Disease
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Polygenic and Multifactorial Disorders
Symptoms:
chest pain or discomfort (angina); shortness of breath; fatigue; heart attack symptoms such as severe chest pain, sweating, and nausea
Root Cause:
Buildup of plaque (atherosclerosis) in the coronary arteries, leading to reduced blood flow to the heart. Genetic predispositions combined with lifestyle factors exacerbate the risk.
How it's Diagnosed: videos
Electrocardiogram (ECG), stress tests, echocardiography, coronary angiography, and blood tests for cholesterol and cardiac enzymes.
Treatment:
Lifestyle changes (diet, exercise, smoking cessation), medications, and surgical interventions like angioplasty or coronary artery bypass grafting (CABG).
Medications:
Statins (e.g., atorvastatin ) to lower cholesterol. Antiplatelets (e.g., aspirin , clopidogrel ) to prevent clot formation. Beta-blockers (e.g., metoprolol ) to reduce heart workload. ACE inhibitors (e.g., lisinopril ) to lower blood pressure and protect the heart. Nitroglycerin for angina relief.
Prevalence:
How common the health condition is within a specific population.
The leading cause of death worldwide, affecting millions annually. Prevalence increases with age.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, smoking, high cholesterol, high blood pressure, diabetes, obesity, physical inactivity.
Prognosis:
The expected outcome or course of the condition over time.
With treatment and lifestyle modifications, CAD can be managed, though it remains a lifelong condition. Untreated, it can lead to fatal heart attacks.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Heart attack, heart failure, arrhythmias, sudden cardiac death.
Severe Combined Immunodeficiency (SCID)
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
frequent severe infections; failure to thrive; persistent diarrhea; poor wound healing; skin rashes
Root Cause:
Mutations in genes critical for T-cell and B-cell development, resulting in a severely compromised immune system.
How it's Diagnosed: videos
Newborn screening (TREC assay), blood tests to assess T-cell numbers and function, genetic testing to identify causative mutations.
Treatment:
Hematopoietic stem cell transplantation (HSCT), gene therapy (for specific mutations), and enzyme replacement therapy (in adenosine deaminase deficiency-related SCID).
Medications:
Preventative antimicrobials (e.g., trimethoprim-sulfamethoxazole for infection prophylaxis); immunoglobulin replacement therapy to prevent infections; corticosteroids to reduce inflammation in some cases.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 58,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of SCID, consanguineous parentage.
Prognosis:
The expected outcome or course of the condition over time.
Without treatment, fatal within the first year of life due to infections; with early intervention, survival rates improve dramatically (80-90% with HSCT).
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic infections, graft-versus-host disease (after HSCT), and long-term immune dysfunction.
Chronic Granulomatous Disease (CGD)
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
recurrent bacterial and fungal infections; abscess formation; chronic inflammation; failure to thrive; skin granulomas
Root Cause:
Mutations in genes affecting the NADPH oxidase complex, leading to impaired production of reactive oxygen species by phagocytes and defective pathogen killing.
How it's Diagnosed: videos
Nitroblue tetrazolium (NBT) test, dihydrorhodamine (DHR) flow cytometry assay, and genetic testing.
Treatment:
Bone marrow transplantation (curative in some cases), prophylactic antibiotics and antifungals, and interferon-gamma therapy to boost immune response.
Medications:
Trimethoprim-sulfamethoxazole for bacterial infection prophylaxis; itraconazole or voriconazole for antifungal prophylaxis; interferon-gamma injections to enhance immune function.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 200,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
X-linked or autosomal recessive inheritance patterns; family history of CGD.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong susceptibility to infections; improved survival with modern treatments but risk of chronic inflammatory complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic inflammation (leading to bowel strictures or obstructions), liver abscesses, and autoimmune-like symptoms.
Alport Syndrome
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Kidney Disorders
Symptoms:
hematuria (blood in urine); proteinuria (protein in urine); progressive kidney failure; hearing loss; ocular abnormalities (e.g., anterior lenticonus, macular thinning)
Root Cause:
Mutations in the COL4A3, COL4A4, or COL4A5 genes disrupt the structure of type IV collagen in the basement membranes of the kidney, ear, and eye, leading to tissue damage.
How it's Diagnosed: videos
Diagnosed through genetic testing, family history, and kidney biopsy.
Treatment:
Treated with ACE inhibitors or ARBs to slow kidney damage, and kidney transplant for end-stage renal disease.
Medications:
ACE inhibitors or ARBs are commonly prescribed to reduce proteinuria and slow kidney disease progression. Other medications include diuretics to manage fluid retention and anemia treatments like erythropoiesis-stimulating agents in advanced kidney disease.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 50,000 live births; X-linked inheritance accounts for about 85% of cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Alport syndrome, presence of COL4A5 mutations (X-linked), or COL4A3/COL4A4 mutations (autosomal recessive or dominant).
Prognosis:
The expected outcome or course of the condition over time.
Variable depending on the mutation and inheritance pattern. Progression to ESRD occurs by age 30 in most males with X-linked Alport syndrome. Early management improves outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
End-stage renal disease, hearing impairment, visual disturbances, cardiovascular complications, and psychological impact from chronic illness.
Down syndrome (trisomy 21)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
distinct facial features (e.g., flat facial profile, small ears, upward slanting eyes); intellectual disability; delayed development; hypotonia (low muscle tone); short stature; congenital heart defects; increased risk of thyroid disorders and leukemia
Root Cause:
Presence of an extra copy of chromosome 21, resulting in trisomy.
How it's Diagnosed: videos
Prenatal screening (e.g., nuchal translucency scan, maternal blood tests), diagnostic tests (e.g., amniocentesis, chorionic villus sampling), and postnatal clinical examination confirmed by karyotyping.
Treatment:
Supportive care, developmental therapies (e.g., speech, physical, occupational therapy), and management of associated medical conditions (e.g., cardiac surgery for heart defects).
Medications:
No specific medications for the chromosomal condition; treatments target associated conditions such as thyroid hormone replacement (levothyroxine ) for hypothyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 700 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age, family history of Down syndrome, previous child with Down syndrome.
Prognosis:
The expected outcome or course of the condition over time.
Varies; life expectancy has increased significantly with medical care, now averaging around 60 years.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Congenital heart defects, respiratory infections, thyroid dysfunction, Alzheimer’s disease in later life.
Edwards syndrome (trisomy 18)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
severe intellectual disability; microcephaly; low birth weight; clenched fists with overlapping fingers; rocker-bottom feet; congenital heart defects; feeding difficulties
Root Cause:
Presence of an extra copy of chromosome 18, resulting in trisomy.
How it's Diagnosed: videos
Prenatal screening (e.g., non-invasive prenatal testing, ultrasound findings), diagnostic tests (amniocentesis or chorionic villus sampling), and postnatal karyotyping.
Treatment:
Supportive care, palliative measures, and management of specific symptoms (e.g., feeding support, surgical repair of heart defects if feasible).
Medications:
No specific medications; treatments are symptomatic. For associated conditions, antibiotics for infections or anticonvulsants for seizures may be used.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 5,000 live births; higher incidence in pregnancies, but most are lost prenatally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age.
Prognosis:
The expected outcome or course of the condition over time.
Poor; most affected infants die within the first year of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, severe developmental delays, feeding difficulties, and congenital abnormalities.
Patau syndrome (trisomy 13)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
severe intellectual disability; microcephaly; cleft lip and/or palate; polydactyly; congenital heart defects; kidney abnormalities; holoprosencephaly (failure of the brain to divide properly)
Root Cause:
Presence of an extra copy of chromosome 13, resulting in trisomy.
How it's Diagnosed: videos
Prenatal screening, diagnostic tests (amniocentesis or chorionic villus sampling), and postnatal karyotyping.
Treatment:
Supportive care, palliative measures, and management of individual symptoms.
Medications:
Symptomatic treatments only; anticonvulsants for seizures and antibiotics for infections may be used.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 10,000 to 20,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age.
Prognosis:
The expected outcome or course of the condition over time.
Very poor; median survival is about 7 to 10 days, with most affected infants dying within the first year of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe developmental delays, feeding difficulties, and organ malformations.
Turner syndrome (45, X)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
short stature; webbed neck; amenorrhea; infertility; broad chest with widely spaced nipples; coarctation of the aorta; low-set ears; learning difficulties
Root Cause:
Missing or partially missing X chromosome in females.
How it's Diagnosed: videos
Prenatal testing (e.g., amniocentesis), clinical features, confirmed by karyotyping.
Treatment:
Growth hormone therapy, estrogen replacement therapy, and management of associated conditions.
Medications:
Growth hormone (somatropin ), estrogen, and progesterone replacement therapies.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 2,000 live female births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Not typically associated with maternal age.
Prognosis:
The expected outcome or course of the condition over time.
Normal lifespan with appropriate treatment, but may have complications like infertility and cardiac issues.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, cardiovascular disease, infertility.
Klinefelter syndrome (47, XXY)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
tall stature; reduced muscle mass; gynecomastia (enlarged breast tissue); small testes; low testosterone levels; infertility; learning difficulties; delayed puberty
Root Cause:
Presence of an extra X chromosome in males.
How it's Diagnosed: videos
Karyotyping, blood hormone levels (low testosterone, high FSH/LH), clinical examination.
Treatment:
Testosterone replacement therapy, speech and physical therapy, fertility treatment (e.g., assisted reproductive technologies).
Medications:
Testosterone (androgen replacement therapy).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 600 to 1,000 live male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced parental age slightly increases the risk.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy with appropriate treatment; infertility is common but can be managed in some cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, metabolic syndrome, cardiovascular issues, and psychological challenges such as anxiety or depression.
Triple X syndrome (47, XXX)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
tall stature; mild developmental delays; learning difficulties; delayed speech and motor skills; anxiety or emotional challenges; infertility (rare)
Root Cause:
Presence of an extra X chromosome in females.
How it's Diagnosed: videos
Karyotyping, genetic testing, and sometimes incidentally during evaluations for other conditions.
Treatment:
Supportive therapies such as speech therapy, educational support, and counseling for emotional or social challenges.
Medications:
No specific medications for the chromosomal condition; symptomatic treatments as needed.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 1,000 live female births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific known risk factors.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy; most affected individuals have normal fertility and lead typical lives with some support.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, psychological challenges, and rarely infertility.
XYY syndrome (47, XYY)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Numerical Chromosomal Abnormalities
Symptoms:
tall stature; mild learning disabilities; speech delays; behavioral challenges (e.g., impulsivity, attention difficulties); normal sexual development and fertility
Root Cause:
Presence of an extra Y chromosome in males.
How it's Diagnosed: videos
Karyotyping, genetic testing, and clinical assessment.
Treatment:
Supportive therapies such as speech and occupational therapy, educational support, and behavioral interventions.
Medications:
No specific medications for the chromosomal condition; symptomatic treatments as needed (e.g., ADHD medications if necessary).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 1,000 live male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific known risk factors.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy and fertility; most individuals lead typical lives with some developmental support.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, behavioral challenges, and emotional difficulties.
Cri-du-chat syndrome (5p deletion)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Structural Chromosomal Abnormalities
Symptoms:
high-pitched, cat-like cry in infants; intellectual disability; delayed development; microcephaly; distinct facial features (wide-set eyes, small jaw); low muscle tone (hypotonia); behavioral issues
Root Cause:
Deletion of a portion of the short arm of chromosome 5 (5p).
How it's Diagnosed: videos
Clinical examination, karyotyping, and FISH (fluorescence in situ hybridization) or array-based comparative genomic hybridization (array-CGH).
Treatment:
Symptom management through physical therapy, speech therapy, educational support, and behavioral interventions.
Medications:
No specific medications for the condition; treatments may involve antiepileptic drugs for seizures and medications to manage associated conditions such as ADHD or behavioral issues.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 15,000 to 50,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Most cases are de novo (new mutations); rarely, parental chromosomal rearrangements (e.g., balanced translocations) increase the risk.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong condition with varying levels of intellectual and physical impairment; early intervention can improve quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe intellectual disability, speech difficulties, and potential organ system complications such as cardiac defects.
Wolf-Hirschhorn syndrome (4p deletion)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Structural Chromosomal Abnormalities
Symptoms:
distinctive facial features (greek helmet appearance); severe developmental delay; intellectual disability; seizures; poor growth; low muscle tone (hypotonia); congenital heart defects
Root Cause:
Deletion of a portion of the short arm of chromosome 4 (4p).
How it's Diagnosed: videos
Genetic testing including karyotyping, FISH, or array-CGH.
Treatment:
Multidisciplinary approach including physical therapy, anticonvulsants for seizures, and surgical correction of heart defects.
Medications:
Anticonvulsants like levetiracetam , valproic acid, or lamotrigine for managing seizures.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 50,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Mostly de novo deletions; rare cases involve parental balanced chromosomal translocations.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong disability; severity varies; early intervention improves developmental outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe intellectual disability, epilepsy, and risk of recurrent respiratory infections.
22q11.2 deletion syndrome (DiGeorge syndrome)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Structural Chromosomal Abnormalities
Symptoms:
cardiac defects; immune system deficiencies; palatal abnormalities; hypocalcemia; learning disabilities; psychiatric disorders; distinctive facial features
Root Cause:
Deletion of a portion of chromosome 22q11.2.
How it's Diagnosed: videos
Genetic testing via FISH or microarray analysis; confirmed with clinical symptoms.
Treatment:
Management of specific symptoms including cardiac surgery, calcium supplements, speech therapy, and immune system support.
Medications:
Calcium and vitamin D supplements for hypocalcemia; antipsychotics or antidepressants for psychiatric symptoms.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 4,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Often de novo mutations; 10% are inherited from an affected parent.
Prognosis:
The expected outcome or course of the condition over time.
Variable; dependent on the severity of associated defects; early treatment improves outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe immune deficiency, cardiac complications, and increased risk for psychiatric disorders.
Williams syndrome (7q11.23 deletion)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Structural Chromosomal Abnormalities
Symptoms:
distinctive facial features; intellectual disability; overly social personality; cardiovascular issues (e.g., supravalvular aortic stenosis); growth delays; hypercalcemia
Root Cause:
Deletion of a region on chromosome 7q11.23.
How it's Diagnosed: videos
FISH or microarray analysis, alongside clinical evaluation.
Treatment:
Symptom management including cardiac surgery, dietary management for hypercalcemia, and educational support.
Medications:
Beta-blockers or antihypertensives for managing cardiovascular symptoms.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 7,500 to 10,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
De novo deletion in most cases; rare familial transmission.
Prognosis:
The expected outcome or course of the condition over time.
Variable; cardiac issues can be life-threatening; most individuals live into adulthood with proper care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiac complications, hypercalcemia, and behavioral issues.
Prader-Willi syndrome (15q deletion)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Structural Chromosomal Abnormalities
Symptoms:
hypotonia in infancy; poor feeding initially followed by hyperphagia; obesity; intellectual disability; behavioral issues; short stature; hypogonadism
Root Cause:
Loss of paternal genetic material in the 15q11-q13 region, commonly due to deletion or uniparental disomy (maternal inheritance of both copies).
How it's Diagnosed: videos
Methylation analysis and genetic testing to confirm deletion or uniparental disomy.
Treatment:
Management through growth hormone therapy, strict diet, physical activity, and behavioral therapy.
Medications:
Growth hormone to improve height and muscle tone; appetite suppressants or medications for behavioral problems may be considered.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 15,000 to 30,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Most cases are de novo mutations; recurrence risk for siblings is low unless familial chromosomal rearrangements are present.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong condition; early intervention improves quality of life; obesity-related complications can affect life expectancy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe obesity, type 2 diabetes, sleep apnea, and behavioral challenges.
Angelman syndrome (15q deletion or UBE3A mutation)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Structural Chromosomal Abnormalities
Symptoms:
severe intellectual disability; absent or minimal speech; ataxia; frequent laughter or smiling; seizures; microcephaly
Root Cause:
Loss of function of the maternally inherited UBE3A gene in the 15q11-q13 region, often due to deletion, mutation, or uniparental disomy.
How it's Diagnosed: videos
Methylation analysis, genetic testing for UBE3A mutations, or chromosomal microarray.
Treatment:
Symptom management through physical, occupational, and speech therapies; anticonvulsants for seizures.
Medications:
Anticonvulsants such as valproic acid, clonazepam , or levetiracetam for seizures.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 12,000 to 20,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Usually de novo; rare familial cases involve inherited mutations.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong condition; severe developmental challenges, but many individuals have a normal lifespan.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Epilepsy, sleep disturbances, and feeding difficulties.
Smith-Magenis syndrome (17p deletion)
Specialty: Genetics
Category: Chromosomal Disorders
Sub-category: Structural Chromosomal Abnormalities
Symptoms:
mild to moderate intellectual disability; behavioral problems (self-injury, aggression); sleep disturbances; distinctive facial features; speech and motor delays; obesity in adulthood
Root Cause:
Deletion of a portion of the short arm of chromosome 17 (17p11.2) or mutations in the RAI1 gene.
How it's Diagnosed: videos
Genetic testing using microarray analysis or targeted RAI1 gene sequencing.
Treatment:
Symptom-based management including behavioral therapy, melatonin for sleep regulation, and educational interventions.
Medications:
Melatonin or beta-blockers for sleep disturbances; medications for behavioral problems (e.g., risperidone or other antipsychotics).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 15,000 to 25,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Mostly de novo mutations or deletions; familial cases are extremely rare.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong condition; early intervention improves developmental outcomes; obesity and sleep issues require ongoing management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Behavioral issues, sleep disturbances, and obesity-related health problems.
Marfan Syndrome (FBN1 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Dominant Disorders
Symptoms:
tall stature; long limbs and fingers; scoliosis; pectus excavatum or pectus carinatum; lens dislocation; aortic aneurysm or dissection; mitral valve prolapse; joint hypermobility
Root Cause:
Mutation in the FBN1 gene causing defective fibrillin-1, a structural protein essential for connective tissue integrity.
How it's Diagnosed: videos
Clinical examination, family history, echocardiography for aortic dilation, genetic testing for FBN1 mutations.
Treatment:
Regular monitoring of cardiovascular health, surgical repair of aortic aneurysms if indicated, physical therapy for joint issues, vision correction.
Medications:
Beta-blockers (e.g., propranolol ) to reduce stress on the aorta, or angiotensin receptor blockers (ARBs) like losartan , which may help prevent aortic dilation.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 5,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Marfan syndrome, being born to a parent with the FBN1 mutation (50% inheritance risk).
Prognosis:
The expected outcome or course of the condition over time.
With proper management and monitoring, individuals can have a near-normal lifespan.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Aortic dissection, heart failure, severe scoliosis, retinal detachment, pneumothorax.
Neurofibromatosis Type 1 (NF1 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Dominant Disorders
Symptoms:
café-au-lait spots; neurofibromas; axillary or inguinal freckling; lisch nodules (iris hamartomas); optic gliomas; learning disabilities; scoliosis
Root Cause:
Mutation in the NF1 gene causing loss of neurofibromin, a tumor suppressor protein.
How it's Diagnosed: videos
Clinical diagnostic criteria (greather than 6 café-au-lait spots, greater than 2 neurofibromas, or other features), MRI for optic gliomas, genetic testing for NF1 mutations.
Treatment:
Symptom-based management, surgical removal of problematic neurofibromas, early intervention for learning disabilities.
Medications:
Selumetinib , a MEK inhibitor, may be used to reduce the size of plexiform neurofibromas.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 3,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, 50% inheritance risk from an affected parent.
Prognosis:
The expected outcome or course of the condition over time.
Highly variable; most individuals live normal lifespans, but severe complications may arise.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Malignant transformation of neurofibromas, scoliosis, optic pathway gliomas.
Neurofibromatosis Type 2 (NF2 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Dominant Disorders
Symptoms:
bilateral vestibular schwannomas (hearing loss, tinnitus, balance issues); meningiomas; schwannomas in other nerves; vision changes from cataracts
Root Cause:
Mutation in the NF2 gene resulting in loss of merlin (schwannomin), a tumor suppressor protein.
How it's Diagnosed: videos
MRI of the brain and spine, auditory testing, genetic testing for NF2 mutations.
Treatment:
Surgical removal or radiation of tumors, auditory rehabilitation, vision correction for cataracts.
Medications:
Bevacizumab , an angiogenesis inhibitor, may reduce the size of vestibular schwannomas.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 25,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of NF2, 50% inheritance risk from an affected parent.
Prognosis:
The expected outcome or course of the condition over time.
Progressive condition; early treatment improves quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Hearing loss, facial nerve paralysis, spinal cord compression.
Huntington’s Disease (HTT gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Dominant Disorders
Symptoms:
progressive movement disorders (chorea, dystonia); cognitive decline; psychiatric symptoms (depression, irritability, apathy); difficulty with coordination; speech and swallowing difficulties
Root Cause:
Expansion of CAG trinucleotide repeats in the HTT gene, leading to toxic accumulation of mutant huntingtin protein in neurons.
How it's Diagnosed: videos
Genetic testing confirming expanded CAG repeats, clinical evaluation of motor, cognitive, and psychiatric symptoms, family history.
Treatment:
Symptom management with multidisciplinary care including neurology, psychiatry, and physical therapy.
Medications:
Tetrabenazine or deutetrabenazine for chorea; antidepressants (SSRIs) and antipsychotics for psychiatric symptoms.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 3 to 7 per 100,000 individuals of European descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Huntington’s disease; 50% inheritance risk for children of an affected parent.
Prognosis:
The expected outcome or course of the condition over time.
Progressive and fatal disease; average survival is 15–20 years after symptom onset.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Aspiration pneumonia, malnutrition, injury from falls, severe cognitive and psychiatric impairment.
Achondroplasia (FGFR3 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Dominant Disorders
Symptoms:
short stature; disproportionately short limbs; macrocephaly; frontal bossing; midface hypoplasia; spinal stenosis; bowed legs
Root Cause:
Gain-of-function mutation in the FGFR3 gene, leading to impaired cartilage formation and bone growth.
How it's Diagnosed: videos
Clinical examination, radiographic findings, genetic testing for FGFR3 mutations.
Treatment:
Symptom management with physical therapy, surgical intervention for spinal stenosis or severe deformities, growth hormone therapy (under investigation).
Medications:
Vosoritide , a C-type natriuretic peptide analog, to promote bone growth in children.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 15,000–40,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced paternal age increases the risk of new mutations; 50% inheritance risk from an affected parent.
Prognosis:
The expected outcome or course of the condition over time.
Normal lifespan with appropriate management; potential for complications requiring intervention.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Foramen magnum compression, spinal cord compression, recurrent ear infections, sleep apnea.
Familial Hypercholesterolemia (LDLR gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Dominant Disorders
Symptoms:
elevated ldl cholesterol; xanthomas (cholesterol deposits in tendons); xanthelasmas (yellowish deposits around eyelids); premature coronary artery disease
Root Cause:
Mutation in the LDLR gene causing reduced clearance of LDL cholesterol from the bloodstream.
How it's Diagnosed: videos
Lipid profile showing high LDL cholesterol, genetic testing for LDLR mutations, family history of early cardiovascular disease.
Treatment:
Lifestyle changes (diet, exercise), lipid-lowering therapies, and monitoring for cardiovascular complications.
Medications:
Statins (e.g., atorvastatin , rosuvastatin ), PCSK9 inhibitors (e.g., evolocumab , alirocumab ), ezetimibe , and bile acid sequestrants.
Prevalence:
How common the health condition is within a specific population.
Heterozygous form affects 1 in 250 individuals; homozygous form is rarer (~1 in 1 million).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of familial hypercholesterolemia; 50% inheritance risk in heterozygotes.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong risk of cardiovascular disease; early treatment can significantly improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Myocardial infarction, stroke, peripheral artery disease.
Hereditary Breast and Ovarian Cancer Syndrome (BRCA1/BRCA2 mutations)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Dominant Disorders
Symptoms:
early-onset breast cancer; ovarian cancer; pancreatic cancer; prostate cancer in males; multiple primary cancers in the same individual
Root Cause:
Mutations in BRCA1 or BRCA2 genes impair DNA repair mechanisms, leading to increased susceptibility to cancer.
How it's Diagnosed: videos
Genetic testing for BRCA1/BRCA2 mutations, family history of cancers, tumor testing for somatic BRCA mutations.
Treatment:
Cancer screening and prevention (e.g., mammography, transvaginal ultrasound), risk-reducing surgery (mastectomy, oophorectomy), targeted cancer therapies.
Medications:
PARP inhibitors (e.g., olaparib , rucaparib ) for cancers associated with BRCA mutations.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 400 individuals carries a BRCA mutation; higher prevalence in certain populations (e.g., Ashkenazi Jews).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of BRCA-related cancers; 50% inheritance risk from an affected parent.
Prognosis:
The expected outcome or course of the condition over time.
With early detection and management, outcomes can be significantly improved.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
High risk of metastatic cancer, secondary cancers.
Cystic fibrosis (CFTR gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
persistent coughing with phlegm; frequent lung infections; shortness of breath; salty-tasting skin; poor growth or weight gain; greasy, bulky stools; male infertility
Root Cause:
Mutations in the CFTR gene lead to defective or absent CFTR protein, resulting in thick, sticky mucus in the lungs, pancreas, and other organs.
How it's Diagnosed: videos
Sweat chloride test, genetic testing for CFTR mutations, newborn screening, pulmonary function tests, and imaging (e.g., chest X-ray).
Treatment:
Airway clearance techniques, physical therapy, nutritional support, lung transplant in severe cases.
Medications:
CFTR modulators (e.g., ivacaftor , lumacaftor /ivacaftor ), bronchodilators, mucolytics (e.g., dornase alfa), antibiotics for lung infections (e.g., tobramycin , azithromycin ), pancreatic enzyme replacement therapy.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 70,000 individuals worldwide; most common in people of Northern European descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, being of Northern European ancestry.
Prognosis:
The expected outcome or course of the condition over time.
Life expectancy has improved significantly with advancements in treatment; median survival is around 40–50 years.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic respiratory failure, diabetes, osteoporosis, infertility, liver disease.
Sickle cell disease (HBB gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
anemia; pain episodes (sickle cell crises); swelling in hands and feet; frequent infections; delayed growth; vision problems
Root Cause:
Mutations in the HBB gene cause abnormal hemoglobin (HbS), leading to red blood cells becoming sickle-shaped and prone to clumping.
How it's Diagnosed: videos
Hemoglobin electrophoresis, genetic testing for HBB mutations, newborn screening.
Treatment:
Blood transfusions, bone marrow transplant, pain management, and prevention of infections.
Medications:
Hydroxyurea (stimulates fetal hemoglobin production), L-glutamine (reduces oxidative stress), crizanlizumab (reduces pain crises), voxelotor (improves hemoglobin levels).
Prevalence:
How common the health condition is within a specific population.
Approximately 300,000 births annually worldwide; more common in individuals of African, Mediterranean, Middle Eastern, and Indian ancestry.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, being of African or Mediterranean descent.
Prognosis:
The expected outcome or course of the condition over time.
Variable; with proper treatment, many patients live into their 40s or 50s, though complications may arise.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Stroke, organ damage, acute chest syndrome, infections, leg ulcers.
Tay-Sachs disease (HEXA gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
loss of motor skills; muscle weakness; seizures; exaggerated startle response; vision and hearing loss; cherry-red spot on the retina
Root Cause:
Mutations in the HEXA gene lead to a deficiency of beta-hexosaminidase A, causing accumulation of GM2 gangliosides in nerve cells.
How it's Diagnosed: videos
Enzyme activity assay for beta-hexosaminidase A, genetic testing for HEXA mutations, prenatal testing for carriers.
Treatment:
Currently no cure; supportive care includes managing symptoms, physical therapy, and nutritional support.
Medications:
No specific medications; anticonvulsants for seizures, supportive therapies.
Prevalence:
How common the health condition is within a specific population.
Most common in Ashkenazi Jewish populations, with a carrier frequency of 1 in 30.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Ashkenazi Jewish, French-Canadian, or Cajun ancestry; family history of Tay-Sachs.
Prognosis:
The expected outcome or course of the condition over time.
Poor; infantile form leads to death by age 4–5.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive neurological decline, respiratory infections, feeding difficulties.
Phenylketonuria (PAH gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
intellectual disability; seizures; musty odor in breath, skin, or urine; behavioral problems; eczema; delayed developmental milestones
Root Cause:
Mutations in the PAH gene result in deficient phenylalanine hydroxylase, leading to the accumulation of phenylalanine in the blood and toxic effects on the brain.
How it's Diagnosed: videos
Newborn screening via blood test (measuring phenylalanine levels), genetic testing for PAH mutations.
Treatment:
Lifelong low-phenylalanine diet, special medical formulas, and newer enzyme substitution therapies.
Medications:
Sapropterin dihydrochloride (BH4 cofactor to reduce phenylalanine levels), pegvaliase (enzyme replacement therapy).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 10,000 to 1 in 15,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; higher prevalence in European and Asian populations.
Prognosis:
The expected outcome or course of the condition over time.
Good with early and lifelong treatment; untreated cases result in severe intellectual disability and neurological damage.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe intellectual disability, seizures, behavioral problems, psychiatric disorders.
Wilson disease (ATP7B gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
jaundice; abdominal pain; swelling in legs and abdomen; neurological symptoms like tremors or poor coordination; psychiatric symptoms; kayser-fleischer rings in the eyes
Root Cause:
Mutations in the ATP7B gene impair copper transport, leading to copper accumulation in the liver, brain, and other tissues.
How it's Diagnosed: videos
Serum ceruloplasmin levels, 24-hour urine copper test, liver biopsy, genetic testing for ATP7B mutations, slit-lamp exam for Kayser-Fleischer rings.
Treatment:
Copper-chelating agents, dietary modifications to reduce copper intake, and liver transplantation in severe cases.
Medications:
Penicillamine (chelates copper), trientine (alternative chelating agent), zinc acetate (reduces copper absorption).
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 30,000 to 1 in 40,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; no specific demographic predisposition.
Prognosis:
The expected outcome or course of the condition over time.
Good with early treatment; untreated cases result in severe liver and neurological damage.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver failure, neurological impairment, psychiatric disorders.
Alpha-1 antitrypsin deficiency (SERPINA1 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Autosomal Recessive Disorders
Symptoms:
shortness of breath; chronic cough; wheezing; recurrent respiratory infections; jaundice; liver disease
Root Cause:
Mutations in the SERPINA1 gene lead to low or dysfunctional alpha-1 antitrypsin protein, causing lung damage from uninhibited neutrophil elastase and liver damage due to protein accumulation.
How it's Diagnosed: videos
Blood test measuring alpha-1 antitrypsin levels, genetic testing for SERPINA1 mutations, imaging for lung damage (e.g., CT scan), liver function tests.
Treatment:
Lifestyle changes (e.g., avoiding smoking), augmentation therapy with alpha-1 antitrypsin, and, in severe cases, lung or liver transplantation.
Medications:
Alpha-1 antitrypsin protein (augmentation therapy), bronchodilators, corticosteroids for lung inflammation.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 2,500 to 1 in 5,000 individuals of European descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; higher prevalence in Northern European populations.
Prognosis:
The expected outcome or course of the condition over time.
Variable; better with early diagnosis and lifestyle modifications. Without treatment, may lead to early-onset COPD or liver disease.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Early-onset emphysema, liver cirrhosis, hepatocellular carcinoma.
Duchenne muscular dystrophy (DMD gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: X-Linked Disorders
Symptoms:
progressive muscle weakness; delayed motor milestones; difficulty climbing stairs; waddling gait; calf pseudohypertrophy; respiratory complications; cardiomyopathy
Root Cause:
Mutations in the DMD gene lead to the absence or deficiency of dystrophin, a protein essential for muscle integrity.
How it's Diagnosed: videos
Clinical evaluation, elevated creatine kinase (CK) levels, genetic testing for DMD mutations, muscle biopsy (rarely used).
Treatment:
Physical therapy, corticosteroids, assistive devices, multidisciplinary care (including cardiology and respiratory specialists).
Medications:
Prednisone or deflazacort (corticosteroids) to slow muscle degeneration; exon-skipping drugs like eteplirsen for specific mutations.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 3,500 to 5,000 male births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of DMD mutations; primarily affects males due to X-linked inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Progressive and life-limiting; survival often into the 20s or 30s with advanced care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, heart failure, scoliosis, contractures, and reduced mobility.
Hemophilia A (F8 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: X-Linked Disorders
Symptoms:
spontaneous bleeding; prolonged bleeding after injuries or surgeries; joint swelling and pain; easy bruising
Root Cause:
Mutations in the F8 gene lead to deficiency or dysfunction of clotting factor VIII, impairing blood clotting.
How it's Diagnosed: videos
Coagulation tests (prolonged activated partial thromboplastin time), factor VIII activity assays, genetic testing.
Treatment:
Regular infusion of recombinant or plasma-derived factor VIII concentrates; prophylactic therapy to prevent bleeding episodes.
Medications:
Emicizumab (monoclonal antibody for prophylaxis), desmopressin (for mild cases), clotting factor concentrates (recombinant or plasma-derived).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 5,000 male births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of hemophilia A; primarily affects males due to X-linked inheritance.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate treatment, individuals can lead relatively normal lives; untreated, can result in severe disability or death.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Joint damage from repeated bleeding, inhibitor formation (antibodies to factor VIII), intracranial hemorrhage.
Hemophilia B (F9 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: X-Linked Disorders
Symptoms:
spontaneous bleeding; prolonged bleeding after injuries or surgeries; joint swelling and pain; easy bruising
Root Cause:
Mutations in the F9 gene lead to deficiency or dysfunction of clotting factor IX, impairing blood clotting.
How it's Diagnosed: videos
Coagulation tests (prolonged activated partial thromboplastin time), factor IX activity assays, genetic testing.
Treatment:
Regular infusion of recombinant or plasma-derived factor IX concentrates; prophylactic therapy to prevent bleeding episodes.
Medications:
Factor IX concentrates (recombinant or plasma-derived), non-factor therapies (emerging treatments).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 25,000 male births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of hemophilia B; primarily affects males due to X-linked inheritance.
Prognosis:
The expected outcome or course of the condition over time.
With treatment, individuals can lead a normal life; untreated, can result in severe disability or death.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Joint damage from repeated bleeding, inhibitor formation (antibodies to factor IX), intracranial hemorrhage.
Fragile X syndrome (FMR1 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: X-Linked Disorders
Symptoms:
intellectual disability; behavioral challenges; anxiety; hyperactivity; autistic traits; long face; large ears; macroorchidism in males
Root Cause:
Expansion of CGG repeats in the FMR1 gene leads to loss of function of FMRP protein, essential for neural development.
How it's Diagnosed: videos
Genetic testing to identify CGG repeat expansions in the FMR1 gene.
Treatment:
Supportive therapies, including special education, behavioral therapy, speech therapy, and medication for symptoms like anxiety or hyperactivity.
Medications:
Stimulants (e.g., methylphenidate ) for ADHD symptoms, selective serotonin reuptake inhibitors (SSRIs) for anxiety.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 4,000 males and 1 in 8,000 females worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of FMR1 mutations; primarily affects males, though females can have milder symptoms.
Prognosis:
The expected outcome or course of the condition over time.
Variable; with support, individuals can achieve meaningful developmental milestones.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning difficulties, social challenges, and physical symptoms persist throughout life.
Rett syndrome (MECP2 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: X-Linked Disorders
Symptoms:
loss of acquired skills; hand-wringing movements; breathing irregularities; seizures; developmental regression; motor impairments
Root Cause:
Mutations in the MECP2 gene impair regulation of gene expression, critical for brain development.
How it's Diagnosed: videos
Clinical evaluation of developmental history and genetic testing for MECP2 mutations.
Treatment:
Symptom management through therapies (physical, occupational, speech), anticonvulsants, and supportive care.
Medications:
Antiepileptic drugs (e.g., valproate, levetiracetam ) for seizures; medications for spasticity or anxiety as needed.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 10,000 to 15,000 females; rare in males.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
De novo mutations in MECP2; no significant familial risk in most cases.
Prognosis:
The expected outcome or course of the condition over time.
Life-long challenges; early intervention improves quality of life, but no cure exists.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Seizures, scoliosis, breathing difficulties, nutritional challenges.
X-linked adrenoleukodystrophy (ABCD1 gene mutation)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: X-Linked Disorders
Symptoms:
behavioral changes; progressive neurological decline; adrenal insufficiency; spasticity; vision and hearing loss
Root Cause:
Mutations in the ABCD1 gene impair peroxisomal beta-oxidation, leading to accumulation of very long-chain fatty acids (VLCFAs) in tissues.
How it's Diagnosed: videos
Elevated VLCFA levels in plasma, genetic testing for ABCD1 mutations, MRI for brain changes.
Treatment:
Adrenal hormone replacement, hematopoietic stem cell transplantation (HSCT) in early stages, supportive care.
Medications:
Corticosteroids (e.g., hydrocortisone ) for adrenal insufficiency; investigational therapies for VLCFA reduction.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 20,000 males worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of ABCD1 mutations; primarily affects males.
Prognosis:
The expected outcome or course of the condition over time.
Progressive and potentially fatal; early detection and treatment can improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crisis, severe neurological disability, early death without intervention.
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Mitochondrial Disorders
Symptoms:
muscle weakness; recurrent headaches; vomiting; seizures; stroke-like episodes before age 40; hearing loss; diabetes mellitus; vision loss; cognitive decline
Root Cause:
Mutations in mitochondrial DNA (mtDNA) impair energy production in cells by affecting oxidative phosphorylation.
How it's Diagnosed: videos
Clinical assessment, brain MRI showing stroke-like lesions, muscle biopsy with ragged red fibers, and genetic testing for mtDNA mutations.
Treatment:
Symptomatic management with physical therapy, occupational therapy, and dietary supplementation (e.g., L-arginine, coenzyme Q10). Stroke prevention strategies may include arginine supplementation during acute episodes.
Medications:
No specific FDA-approved medications for MELAS; however, supplements like L-arginine and coenzyme Q10 (antioxidants and mitochondrial support therapies) are often recommended. Anticonvulsants may be prescribed for seizures (e.g., levetiracetam , a broad-spectrum anticonvulsant).
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated prevalence of 1 in 10,000 to 1 in 20,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of mitochondrial disorders, maternally inherited mtDNA mutations.
Prognosis:
The expected outcome or course of the condition over time.
Progressive disorder with varying severity; life expectancy depends on the severity of symptoms and complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Stroke-like episodes, seizures, hearing loss, progressive neurological decline, diabetes mellitus, and cardiomyopathy.
Leber Hereditary Optic Neuropathy (LHON)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Mitochondrial Disorders
Symptoms:
painless, acute or subacute central vision loss; blurring or clouding of vision; progressive bilateral visual impairment
Root Cause:
Mutations in mtDNA cause defective oxidative phosphorylation, leading to the degeneration of retinal ganglion cells and optic nerve.
How it's Diagnosed: videos
Clinical ophthalmologic examination, optical coherence tomography (OCT), and genetic testing for mtDNA mutations (e.g., m.11778G>A).
Treatment:
Vision aids for low vision; idebenone, an antioxidant, is used to improve outcomes in some cases.
Medications:
Idebenone (antioxidant therapy) is often prescribed; it is classified as a free radical scavenger and mitochondrial support agent.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 50,000 individuals, with higher prevalence in males than females.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of LHON, tobacco use, alcohol abuse, and exposure to environmental toxins may trigger symptoms in carriers.
Prognosis:
The expected outcome or course of the condition over time.
Variable; some patients experience partial recovery of vision, but many remain severely visually impaired.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Permanent vision loss, depression due to visual disability, and potential progression to bilateral blindness.
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Mitochondrial Disorders
Symptoms:
myoclonus (involuntary muscle jerks); epilepsy; ataxia; muscle weakness; hearing loss; short stature; exercise intolerance; cognitive impairment
Root Cause:
Mutations in mtDNA impair mitochondrial function, affecting energy production in muscle and nerve tissues.
How it's Diagnosed: videos
Clinical features, muscle biopsy showing ragged red fibers, and genetic testing for mtDNA mutations (e.g., m.8344A>G).
Treatment:
Symptomatic treatment including antiepileptic drugs for seizures, physical therapy, and dietary supplementation (e.g., L-carnitine, coenzyme Q10).
Medications:
Anticonvulsants like valproate or levetiracetam are used for seizure control; L-carnitine and coenzyme Q10 are used as mitochondrial support therapies.
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated prevalence of 1 in 400,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of mitochondrial disorders and maternally inherited mtDNA mutations.
Prognosis:
The expected outcome or course of the condition over time.
Progressive disease with variability in severity; life expectancy is reduced in severe cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Refractory epilepsy, progressive neurological decline, cardiomyopathy, and respiratory failure.
Kearns-Sayre Syndrome (KSS)
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Mitochondrial Disorders
Symptoms:
progressive external ophthalmoplegia (weakness of eye muscles); ptosis (drooping eyelids); retinal degeneration; cardiac conduction defects; ataxia; hearing loss; short stature; diabetes mellitus
Root Cause:
Large-scale deletions of mtDNA disrupt mitochondrial energy production, affecting multiple organ systems.
How it's Diagnosed: videos
Clinical features, muscle biopsy showing ragged red fibers, and genetic testing for mtDNA deletions.
Treatment:
Supportive treatment including cardiac pacing for conduction defects, hearing aids, physical therapy, and dietary supplementation (e.g., coenzyme Q10).
Medications:
No specific FDA-approved treatments; coenzyme Q10 and antioxidants like vitamin E are commonly recommended for mitochondrial support.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 1 in 100,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Sporadic occurrence, though some familial cases with mtDNA deletions have been reported.
Prognosis:
The expected outcome or course of the condition over time.
Progressive disease; life expectancy depends on the severity of cardiac and neurological complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Complete heart block, progressive vision loss, hearing impairment, and endocrinopathies like diabetes mellitus.
Type 1 and Type 2 Diabetes Mellitus
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Polygenic and Multifactorial Disorders
Symptoms:
increased thirst and urination; unexplained weight loss; fatigue; blurred vision; slow healing sores or frequent infections; hunger (especially in type 1); tingling or numbness in extremities (especially in type 2)
Root Cause:
Type 1 is caused by autoimmune destruction of insulin-producing beta cells in the pancreas. Type 2 is due to insulin resistance and relative insulin deficiency, often influenced by genetic and environmental factors.
How it's Diagnosed: videos
Blood tests measuring fasting glucose levels, oral glucose tolerance tests (OGTT), hemoglobin A1c levels, and autoantibody tests (for Type 1).
Treatment:
Lifestyle changes (diet, exercise), blood sugar monitoring, insulin therapy (for Type 1), oral hypoglycemic agents, and sometimes insulin (for Type 2).
Medications:
Type 1
Prevalence:
How common the health condition is within a specific population.
Type 1 affects about 5-10% of individuals with diabetes. Type 2 accounts for 90-95% of diabetes cases globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Type 1
Prognosis:
The expected outcome or course of the condition over time.
Manageable with proper treatment; Type 1 requires lifelong insulin, and Type 2 can often be managed or reversed with lifestyle changes and medication.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Heart disease, stroke, kidney disease, retinopathy, neuropathy, and limb amputation due to poor circulation and infections.
Cleft Lip and/or Palate
Specialty: Genetics
Category: Single-Gene Disorders (Mendelian Inheritance)
Sub-category: Polygenic and Multifactorial Disorders
Symptoms:
visible opening in the lip and/or roof of the mouth; difficulty feeding; speech problems; ear infections and hearing loss
Root Cause:
Failure of facial structures to fuse during embryonic development due to genetic and environmental influences.
How it's Diagnosed: videos
Physical examination at birth, prenatal ultrasound in some cases.
Treatment:
Surgical correction (lip repair around 3-6 months, palate repair around 9-18 months), speech therapy, and orthodontic care.
Medications:
No direct medications; antibiotics for associated infections and analgesics post-surgery.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 700 births globally, with variation based on ethnicity and geography.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, maternal smoking or alcohol use, folic acid deficiency, certain medications during pregnancy.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with surgical intervention and multidisciplinary care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Speech and language delays, dental abnormalities, psychosocial challenges.
Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2 mutations)
Specialty: Genetics
Category: Cancer Genetics
Sub-category: Hereditary Cancer Syndromes
Symptoms:
increased risk of breast cancer; increased risk of ovarian cancer; early-onset cancers; male breast cancer; pancreatic cancer; prostate cancer
Root Cause:
Mutations in the BRCA1 or BRCA2 genes, which impair DNA repair mechanisms, lead to genomic instability and increased cancer susceptibility.
How it's Diagnosed: videos
Genetic testing for BRCA1/BRCA2 mutations; family history analysis; screening through mammography, MRI, or pelvic ultrasound.
Treatment:
Prophylactic surgery (mastectomy or salpingo-oophorectomy), targeted therapies (e.g., PARP inhibitors), enhanced screening protocols, and lifestyle modifications.
Medications:
PARP inhibitors such as olaparib and rucaparib (classified as targeted therapies) may be prescribed to treat cancers associated with BRCA mutations.
Prevalence:
How common the health condition is within a specific population.
About 1 in 400 individuals in the general population carry BRCA mutations; prevalence increases significantly in certain ethnic groups (e.g., Ashkenazi Jewish descent).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of BRCA-related cancers, Ashkenazi Jewish ancestry, previous diagnosis of breast or ovarian cancer.
Prognosis:
The expected outcome or course of the condition over time.
Proactive management improves outcomes; early detection and preventive measures significantly reduce mortality risk.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased lifetime risk of multiple cancers, potential emotional and psychological impacts of diagnosis, complications from prophylactic surgeries.
Lynch syndrome (mismatch repair gene mutations
Specialty: Genetics
Category: Cancer Genetics
Sub-category: Hereditary Cancer Syndromes
Symptoms:
increased risk of colorectal cancer; endometrial cancer; ovarian cancer; stomach cancer; urinary tract cancer; sebaceous adenomas
Root Cause:
Mutations in mismatch repair (MMR) genes lead to microsatellite instability, increasing cancer susceptibility.
How it's Diagnosed: videos
Genetic testing for MMR gene mutations, MSI (microsatellite instability) testing, immunohistochemistry (IHC) for MMR protein expression.
Treatment:
Regular screening (colonoscopy, endometrial biopsy), prophylactic surgery, and immunotherapy (e.g., PD-1 inhibitors).
Medications:
PD-1 inhibitors like pembrolizumab or nivolumab (classified as immune checkpoint inhibitors) for advanced cancers.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 300 individuals globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Lynch syndrome-associated cancers, early onset of related cancers.
Prognosis:
The expected outcome or course of the condition over time.
Early and regular screenings improve outcomes; some cancers, if detected late, may require more aggressive treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased lifetime risk of multiple cancers, complications from surgeries, and psychological distress.
Li-Fraumeni syndrome (TP53 gene mutation)
Specialty: Genetics
Category: Cancer Genetics
Sub-category: Hereditary Cancer Syndromes
Symptoms:
early-onset cancers; sarcomas; breast cancer; brain tumors; adrenocortical carcinoma
Root Cause:
TP53 mutations disrupt tumor suppressor function, allowing unregulated cell growth and division.
How it's Diagnosed: videos
Genetic testing for TP53 mutations, family history analysis, whole-body MRI for cancer screening.
Treatment:
Intensive cancer screening, targeted therapies depending on cancer type, prophylactic mastectomy for breast cancer risk.
Medications:
Chemotherapeutic agents specific to cancer type; targeted therapies for certain tumors.
Prevalence:
How common the health condition is within a specific population.
Rare; estimated to affect 1 in 5,000–20,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Li-Fraumeni syndrome or associated cancers.
Prognosis:
The expected outcome or course of the condition over time.
Variable depending on early detection and management; high lifetime cancer risk.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Multiple primary cancers, psychological impact, complications from aggressive treatment protocols.
Familial adenomatous polyposis (APC gene mutation)
Specialty: Genetics
Category: Cancer Genetics
Sub-category: Hereditary Cancer Syndromes
Symptoms:
hundreds to thousands of colorectal polyps; blood in stool; abdominal pain; early-onset colorectal cancer
Root Cause:
APC gene mutations cause unregulated cell growth in the colon and rectum, leading to polyp formation.
How it's Diagnosed: videos
Genetic testing for APC mutations, colonoscopy to identify and biopsy polyps.
Treatment:
Prophylactic colectomy, regular colonoscopy, and chemoprevention with NSAIDs.
Medications:
NSAIDs like sulindac or celecoxib (classified as COX-2 inhibitors) may reduce polyp burden.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 7,000–22,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of FAP or APC mutation.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early detection and management; untreated, nearly 100% risk of colorectal cancer by age 40.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Colorectal cancer, duodenal cancer, desmoid tumors, complications from surgery.
Multiple endocrine neoplasia (MEN1, RET gene mutations)
Specialty: Genetics
Category: Cancer Genetics
Sub-category: Hereditary Cancer Syndromes
Symptoms:
parathyroid tumors; pituitary tumors; pancreatic neuroendocrine tumors; medullary thyroid carcinoma; pheochromocytomas
Root Cause:
MEN1 or RET mutations lead to unregulated endocrine gland growth and tumor development.
How it's Diagnosed: videos
Genetic testing for MEN1 or RET mutations, biochemical testing (hormone levels), imaging (MRI, CT scans).
Treatment:
Surgical removal of tumors, targeted therapies, and hormone regulation treatments.
Medications:
Somatostatin analogs like octreotide (classified as hormonal agents) for neuroendocrine tumors.
Prevalence:
How common the health condition is within a specific population.
MEN1 affects approximately 1 in 30,000 individuals; RET mutations vary with subtype.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN syndromes.
Prognosis:
The expected outcome or course of the condition over time.
Varies depending on tumor type and early intervention; regular monitoring is crucial.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Metastatic cancers, hormonal imbalances, complications from surgeries.
Retinoblastoma (RB1 gene mutation)
Specialty: Genetics
Category: Cancer Genetics
Sub-category: Other Cancer Predispositions
Symptoms:
white pupillary reflex (leukocoria); strabismus (crossed eyes); poor vision; eye redness or swelling; proptosis (bulging eye in advanced stages)
Root Cause:
Mutations in the RB1 tumor suppressor gene lead to uncontrolled cell growth in the retina.
How it's Diagnosed: videos
Comprehensive eye examination, imaging studies (ultrasound, MRI, or CT of the eye), genetic testing to confirm RB1 mutation, and biopsy in rare cases.
Treatment:
Enucleation (surgical removal of the eye) in advanced cases, focal therapies (laser therapy, cryotherapy), chemotherapy (systemic, intra-arterial, or intravitreal), and radiation therapy.
Medications:
Chemotherapeutic agents such as carboplatin (platinum-based chemotherapy), vincristine (microtubule inhibitor), and etoposide (topoisomerase inhibitor) are commonly used to treat retinoblastoma.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 15,000–20,000 live births globally; most common in children under 5 years old.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of RB1 mutation, parental germline mutations, and advanced paternal age (associated with sporadic cases).
Prognosis:
The expected outcome or course of the condition over time.
Excellent if diagnosed early; survival rates exceed 95% in developed countries. Prognosis decreases if metastatic disease is present.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Spread to the brain and bone marrow, vision loss, and secondary cancers in survivors with germline RB1 mutations.
Von Hippel-Lindau disease (VHL gene mutation)
Specialty: Genetics
Category: Cancer Genetics
Sub-category: Other Cancer Predispositions
Symptoms:
hemangioblastomas (brain, spinal cord, retina); pheochromocytomas (adrenal tumors); renal cell carcinoma; cysts in kidneys, pancreas, or other organs; hearing loss (endolymphatic sac tumors); headaches; hypertension
Root Cause:
Mutations in the VHL tumor suppressor gene impair protein regulation, leading to abnormal cell growth and angiogenesis.
How it's Diagnosed: videos
Clinical evaluation, imaging (MRI, CT), genetic testing to confirm VHL mutation, and family history assessment.
Treatment:
Regular surveillance for tumor detection, surgical removal of tumors (hemangioblastomas, renal cell carcinoma), and targeted therapies (VEGF inhibitors) for advanced cases.
Medications:
Sunitinib and pazopanib , both VEGF inhibitors, are used for managing advanced renal cell carcinoma. Cabozantinib may also be considered.
Prevalence:
How common the health condition is within a specific population.
Occurs in approximately 1 in 36,000–45,000 individuals; inherited in an autosomal dominant pattern.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of VHL, inheriting a single pathogenic VHL gene mutation.
Prognosis:
The expected outcome or course of the condition over time.
Early detection and management can significantly improve outcomes. Regular screening helps prevent life-threatening complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Malignant transformation of renal tumors, neurological damage from hemangioblastomas, and hypertensive crises from pheochromocytomas.
Maple syrup urine disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
sweet-smelling urine; poor feeding; vomiting; lethargy; developmental delay; seizures; ketoacidosis; hypotonia
Root Cause:
Deficiency in branched-chain alpha-keto acid dehydrogenase complex, leading to the accumulation of leucine, isoleucine, and valine in the blood and tissues.
How it's Diagnosed: videos
Newborn screening, plasma amino acid analysis showing elevated branched-chain amino acids, genetic testing for mutations in BCKDHA, BCKDHB, or DBT genes.
Treatment:
Dietary restriction of branched-chain amino acids (leucine, isoleucine, valine), supplementation with a specialized medical formula, and emergency intervention during metabolic crises with intravenous fluids and glucose.
Medications:
Thiamine (a cofactor for the defective enzyme) may be tried in thiamine-responsive forms of MSUD.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 1 in 185,000 newborns worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Consanguinity, family history of MSUD, genetic inheritance in an autosomal recessive pattern.
Prognosis:
The expected outcome or course of the condition over time.
Favorable with early diagnosis and strict metabolic control; without treatment, severe neurologic damage or death can occur.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, neurological crises, coma, metabolic acidosis, and death in untreated cases.
Galactosemia
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
jaundice; vomiting; diarrhea; poor feeding; failure to thrive; lethargy; sepsis; cataracts
Root Cause:
Deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT), leading to toxic accumulation of galactose-1-phosphate and galactose.
How it's Diagnosed: videos
Newborn screening, measuring GALT enzyme activity in red blood cells, genetic testing, and elevated galactose-1-phosphate levels in blood.
Treatment:
Lifelong dietary restriction of galactose by avoiding lactose-containing foods (e.g., milk, dairy).
Medications:
No specific medications; dietary management is the mainstay of treatment.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 to 60,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Good with early dietary management, but long-term complications like learning disabilities and ovarian insufficiency are possible.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, liver failure, sepsis, and death in untreated cases.
Urea Cycle Disorders (e.g., Ornithine Transcarbamylase Deficiency)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
hyperammonemia; lethargy; vomiting; poor feeding; irritability; coma; developmental delay
Root Cause:
Defects in enzymes of the urea cycle result in impaired ammonia detoxification and hyperammonemia.
How it's Diagnosed: videos
Plasma ammonia levels, plasma amino acid analysis (elevated glutamine, low citrulline), urinary orotic acid, and genetic testing for specific enzyme mutations.
Treatment:
Protein-restricted diet, ammonia-scavenging drugs, liver transplantation in severe cases.
Medications:
Sodium phenylbutyrate or glycerol phenylbutyrate (ammonia scavengers), arginine or citrulline supplements depending on the enzyme deficiency.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, X-linked or autosomal recessive inheritance patterns.
Prognosis:
The expected outcome or course of the condition over time.
Good with early intervention and metabolic control; severe cases may require liver transplantation.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, seizures, coma, and death due to hyperammonemia.
Glycogen Storage Diseases (e.g., GSD Type I – Von Gierke Disease)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
hypoglycemia; hepatomegaly; lactic acidosis; hyperuricemia; growth retardation; delayed puberty
Root Cause:
Deficiency of glucose-6-phosphatase (Type Ia) or glucose-6-phosphate translocase (Type Ib), leading to impaired glycogenolysis and gluconeogenesis.
How it's Diagnosed: videos
Hypoglycemia and lactic acidosis on biochemical testing, liver biopsy for enzyme activity, or genetic testing for G6PC or SLC37A4 mutations.
Treatment:
Frequent feedings with complex carbohydrates, cornstarch supplementation, and avoiding prolonged fasting.
Medications:
Allopurinol for hyperuricemia and granulocyte colony-stimulating factor (G-CSF) for neutropenia in Type Ib.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 100,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Improved with strict dietary management, though complications like hepatic adenomas and renal dysfunction may develop.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver tumors, kidney disease, gout, and growth retardation.
Gaucher disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Lysosomal Storage Diseases
Symptoms:
enlarged spleen and liver; bone pain; anemia; easy bruising; fatigue; delayed growth in children; neurological complications in severe forms
Root Cause:
Deficiency of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in lysosomes of macrophages.
How it's Diagnosed: videos
Blood tests (glucocerebrosidase enzyme activity, genetic testing for GBA mutations), imaging (MRI, bone density scans), and bone marrow or liver biopsy (rarely used).
Treatment:
Enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and supportive treatments (e.g., blood transfusions, pain management).
Medications:
Enzyme replacement therapies (e.g., imiglucerase , velaglucerase alfa, taliglucerase alfa) help replace the deficient enzyme. Substrate reduction therapies (e.g., eliglustat, miglustat ) reduce the accumulation of harmful substrates.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 50,000 to 1 in 100,000 people worldwide; more common in individuals of Ashkenazi Jewish descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Gaucher disease, Ashkenazi Jewish ancestry, having inherited mutations in the GBA gene.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate treatment, non-neurological forms (Types 1 and 3) often have a good prognosis. Neurological forms (Type 2) are more severe and have a poor prognosis.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Bone crises, fractures, avascular necrosis, pulmonary hypertension, Parkinson's disease (increased risk), and severe neurological deterioration (Type 2).
Fabry disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Lysosomal Storage Diseases
Symptoms:
pain in hands and feet (acroparesthesia); angiokeratomas (small, dark spots on skin); decreased ability to sweat; corneal opacity; hearing loss; progressive kidney and heart issues
Root Cause:
Deficiency of alpha-galactosidase A enzyme, leading to accumulation of globotriaosylceramide (GL-3 or Gb3) in various tissues.
How it's Diagnosed: videos
Enzyme activity assay (low alpha-galactosidase A levels), genetic testing for GLA mutations, and organ evaluations (kidney and heart function).
Treatment:
Enzyme replacement therapy (e.g., agalsidase alfa, agalsidase beta), chaperone therapy (e.g., migalastat for amenable mutations), and management of organ complications.
Medications:
Enzyme replacement therapies (e.g., agalsidase alfa, agalsidase beta) replace the deficient enzyme. Migalastat , a pharmacological chaperone, stabilizes certain mutant enzymes.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 40,000 to 1 in 60,000 males; females are variably affected due to X-linked inheritance.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Fabry disease, inheritance of a mutation in the GLA gene.
Prognosis:
The expected outcome or course of the condition over time.
Lifespan can be improved with early diagnosis and treatment; untreated individuals may develop severe kidney, cardiac, and cerebrovascular complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive kidney disease, heart failure, arrhythmias, strokes, and peripheral nerve damage.
Pompe disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Lysosomal Storage Diseases
Symptoms:
muscle weakness; respiratory difficulties; enlarged heart (in infantile-onset); poor feeding; delayed motor milestones; progressive muscle wasting in late-onset form
Root Cause:
Deficiency of the enzyme acid alpha-glucosidase (GAA), leading to glycogen accumulation in lysosomes, especially in muscle cells.
How it's Diagnosed: videos
Blood tests (low GAA enzyme activity), genetic testing for GAA mutations, muscle biopsy, and imaging or electromyography for muscle evaluation.
Treatment:
Enzyme replacement therapy (ERT) with alglucosidase alfa, respiratory support, and physical therapy.
Medications:
Alglucosidase alfa (a recombinant human acid alpha-glucosidase) is used for enzyme replacement therapy. Supportive treatments include respiratory aids and physical therapy.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 40,000 worldwide; incidence varies by population.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Pompe disease, inheritance of mutations in the GAA gene.
Prognosis:
The expected outcome or course of the condition over time.
Infantile-onset Pompe disease has a poor prognosis without treatment. With ERT, survival improves but complications persist. Late-onset disease has a variable progression.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, progressive muscle weakness, cardiomyopathy (in infantile form), and reduced mobility.
Niemann-Pick disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Lysosomal Storage Diseases
Symptoms:
enlarged spleen and liver; difficulty feeding; progressive neurological decline; poor muscle tone; seizures; difficulty walking; developmental delays; lung problems
Root Cause:
Deficiency of acid sphingomyelinase enzyme (Types A and B) or impaired intracellular lipid trafficking (Type C), leading to accumulation of sphingomyelin or cholesterol in tissues.
How it's Diagnosed: videos
Enzyme activity assay for acid sphingomyelinase (Types A and B), genetic testing (SMPD1 for Types A/B, NPC1/NPC2 for Type C), cholesterol storage studies, and imaging (liver and spleen evaluation).
Treatment:
Symptomatic treatments for neurological symptoms and organ damage; miglustat is used for Niemann-Pick Type C; supportive care includes physical therapy and nutrition management.
Medications:
Miglustat (a substrate reduction therapy) is used for Niemann-Pick Type C. Other treatments include symptom management medications for seizures and lung issues.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 150,000 to 1 in 250,000; higher prevalence in certain populations, such as Ashkenazi Jews (Type A).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Niemann-Pick disease, inherited mutations in SMPD1 (Types A/B) or NPC1/NPC2 (Type C).
Prognosis:
The expected outcome or course of the condition over time.
Prognosis varies by type
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe neurological damage, liver failure, lung disease, and premature death in severe forms.
Mucopolysaccharidoses (MPS)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Lysosomal Storage Diseases
Symptoms:
coarse facial features; enlarged spleen and liver; developmental delays; joint stiffness; hearing loss; corneal clouding; frequent respiratory infections
Root Cause:
Deficiencies in enzymes needed to break down glycosaminoglycans (GAGs), leading to their accumulation in cells and tissues. Specific enzymes are deficient in each MPS type (e.g., alpha-L-iduronidase in Hurler syndrome, iduronate-2-sulfatase in Hunter syndrome).
How it's Diagnosed: videos
Urine tests for excessive GAGs, enzyme activity assays for specific enzyme deficiencies, genetic testing for confirmation.
Treatment:
Enzyme replacement therapy (ERT) for specific types (e.g., laronidase for Hurler syndrome, idursulfase for Hunter syndrome), hematopoietic stem cell transplantation (HSCT) in severe cases, and supportive treatments for symptoms.
Medications:
Laronidase (Hurler syndrome) and idursulfase (Hunter syndrome) are ERTs that replace deficient enzymes. Symptomatic medications manage issues like joint pain and respiratory problems.
Prevalence:
How common the health condition is within a specific population.
Varies by type; overall prevalence is estimated at 1 in 25,000 births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MPS, inherited mutations in genes encoding lysosomal enzymes.
Prognosis:
The expected outcome or course of the condition over time.
Varies widely depending on MPS type and treatment; with ERT and HSCT, outcomes have improved but complications often persist.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Neurological decline, heart and respiratory failure, skeletal abnormalities, and reduced life expectancy in severe cases.
Zellweger Syndrome
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
hypotonia; poor feeding; developmental delay; seizures; distinctive facial features; hearing loss; vision impairment; hepatomegaly; jaundice
Root Cause:
Defects in peroxisome biogenesis caused by mutations in PEX genes, leading to the accumulation of long-chain fatty acids and other toxic substances.
How it's Diagnosed: videos
Blood and urine tests for elevated very long-chain fatty acids, molecular genetic testing for PEX gene mutations, imaging studies for brain abnormalities.
Treatment:
Supportive care focusing on symptom management, including physical therapy, nutritional support, and seizure management.
Medications:
There are no specific medications to cure the condition; however, anticonvulsants such as phenobarbital or levetiracetam may be used for seizure control.
Prevalence:
How common the health condition is within a specific population.
Estimated to occur in 1 in 50,000 to 100,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Zellweger spectrum disorders, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Poor; most infants with severe forms do not survive beyond the first year of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver dysfunction, severe neurological impairment, vision and hearing loss, failure to thrive, and early mortality.
Refsum Disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
retinitis pigmentosa; loss of night vision; peripheral neuropathy; ataxia; scaly skin (ichthyosis); hearing loss; anosmia; cardiac arrhythmias
Root Cause:
Impaired metabolism of phytanic acid due to a mutation in the PHYH gene or PEX7 gene, leading to phytanic acid accumulation.
How it's Diagnosed: videos
Elevated phytanic acid levels in blood plasma, genetic testing for PHYH or PEX7 mutations.
Treatment:
Dietary restriction to avoid phytanic acid (eliminating certain animal fats, dairy products, and fish) and plasmapheresis to reduce phytanic acid levels in severe cases.
Medications:
No direct medications; management includes dietary modifications and vitamin supplementation as needed.
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated incidence of 1 in 1,000,000 globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance; family history of the condition.
Prognosis:
The expected outcome or course of the condition over time.
Variable; with early dietary management, many individuals can maintain a good quality of life, although vision and neurological impairments may progress.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Vision loss, neuropathy, cardiac arrhythmias, and progressive disability if untreated.
Adrenoleukodystrophy (ALD)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
progressive weakness; behavioral changes; spasticity; vision and hearing loss; adrenal insufficiency (addison's disease); seizures
Root Cause:
Mutation in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in the brain, spinal cord, and adrenal glands.
How it's Diagnosed: videos
Elevated VLCFAs in blood plasma, genetic testing for ABCD1 mutations, MRI to detect white matter abnormalities in the brain.
Treatment:
Allogeneic hematopoietic stem cell transplantation (HSCT) in early stages for cerebral ALD; adrenal hormone replacement therapy for adrenal insufficiency.
Medications:
Hydrocortisone or fludrocortisone for adrenal insufficiency; experimental therapies such as gene therapy may also be considered.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 20,000 to 50,000 people, primarily males (X-linked disorder).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of ALD, being male (X-linked inheritance).
Prognosis:
The expected outcome or course of the condition over time.
Without treatment, cerebral ALD leads to progressive neurological decline and early death. Early intervention can improve outcomes, particularly in milder forms.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe neurological disability, adrenal crisis, blindness, and death in severe cases.
Ehlers-Danlos Syndrome
Specialty: Genetics
Category: Connective Tissue and Skeletal Disorders
Sub-category: Connective Tissue Disorders
Symptoms:
hypermobile joints; skin that is stretchy, fragile, or easily bruised; chronic pain; frequent joint dislocations; slow wound healing; dental crowding
Root Cause:
A group of genetic disorders affecting the structure, production, or processing of collagen and related connective tissue proteins.
How it's Diagnosed: videos
Clinical evaluation, family history, genetic testing (e.g., COL1A1, COL5A1 mutations depending on the type).
Treatment:
Symptom management through physical therapy, pain control, joint stabilization, and wound care.
Medications:
Pain management may include acetaminophen , NSAIDs (non-steroidal anti-inflammatory drugs), or low-dose tricyclic antidepressants for chronic pain; no specific medication cures the condition.
Prevalence:
How common the health condition is within a specific population.
Estimated 1 in 5,000 individuals; varies by type.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of the disorder; inherited in autosomal dominant or recessive patterns depending on the type.
Prognosis:
The expected outcome or course of the condition over time.
Highly variable; many lead relatively normal lives with symptom management, but some subtypes can be life-threatening.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Joint instability, chronic pain, vascular rupture (in vascular EDS), organ prolapse, delayed wound healing, and significant skin fragility.
Loeys-Dietz Syndrome
Specialty: Genetics
Category: Connective Tissue and Skeletal Disorders
Sub-category: Aortic and Vascular Disorders
Symptoms:
aneurysms or dissections of the aorta; joint laxity; easy bruising; wide-spaced eyes; bifid uvula; cleft palate; arterial tortuosity
Root Cause:
Mutations in genes such as TGFBR1, TGFBR2, SMAD3, or TGFB2 affecting the transforming growth factor-beta signaling pathway.
How it's Diagnosed: videos
Clinical evaluation, imaging of the vasculature (e.g., echocardiography, CT/MRI), genetic testing.
Treatment:
Regular cardiovascular monitoring, beta-blockers or angiotensin receptor blockers to reduce aortic stress, and surgical repair of aneurysms.
Medications:
Beta-blockers (e.g., atenolol ) or ARBs (e.g., losartan ) to manage blood pressure and reduce strain on the aorta.
Prevalence:
How common the health condition is within a specific population.
Estimated 1 in 100,000; exact prevalence unknown.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Improved with early diagnosis and management; risks of vascular complications necessitate lifelong monitoring.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Aortic dissection, rupture of aneurysms, joint instability, and organ malformations.
Achondroplasia
Specialty: Genetics
Category: Connective Tissue and Skeletal Disorders
Sub-category: Skeletal Dysplasias
Symptoms:
short stature; disproportionately short limbs; macrocephaly; prominent forehead; midface hypoplasia; limited elbow extension; trident hand appearance
Root Cause:
Mutation in the FGFR3 gene leading to abnormal cartilage development, impairing the process of bone growth (endochondral ossification).
How it's Diagnosed: videos
Clinical evaluation of characteristic physical features, molecular genetic testing for FGFR3 mutations, radiographic imaging of skeletal anomalies.
Treatment:
Multidisciplinary approach including growth hormone therapy (experimental), surgical limb lengthening, physical therapy, and management of complications (e.g., spinal stenosis, sleep apnea).
Medications:
Currently, no specific medications target achondroplasia directly, but vosoritide (a C-type natriuretic peptide analog) is under clinical study to promote bone growth. Pain or complications are managed symptomatically, often with NSAIDs.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 15,000 to 40,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced paternal age increases the risk of new FGFR3 mutations; most cases are sporadic, but inheritance is autosomal dominant.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy with proper management of medical complications; height remains significantly below average.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
spinal stenosis; kyphosis; hydrocephalus; obstructive sleep apnea; ear infections; joint pain; orthopedic abnormalities
Thanatophoric Dysplasia
Specialty: Genetics
Category: Connective Tissue and Skeletal Disorders
Sub-category: Skeletal Dysplasias
Symptoms:
severe shortening of limbs; narrow chest; macrocephaly; frontal bossing; cloverleaf skull; underdeveloped lungs; facial dysmorphism
Root Cause:
Mutation in the FGFR3 gene causing severe disruption of bone growth and skeletal development.
How it's Diagnosed: videos
Prenatal ultrasound showing severe skeletal abnormalities; postnatal clinical examination and genetic testing for FGFR3 mutations confirm diagnosis.
Treatment:
Supportive care focusing on respiratory assistance and management of associated symptoms; no curative treatment exists.
Medications:
There are no specific medications for thanatophoric dysplasia; symptomatic treatments like antibiotics for infections or analgesics for discomfort may be used.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 20,000 to 50,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
New mutations in FGFR3, primarily sporadic; no significant environmental or familial risk factors identified.
Prognosis:
The expected outcome or course of the condition over time.
Extremely poor; most affected infants die shortly after birth due to respiratory insufficiency or complications related to underdeveloped lungs.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
severe respiratory distress; pulmonary hypoplasia; multiple organ failure
Cleidocranial Dysplasia
Specialty: Genetics
Category: Connective Tissue and Skeletal Disorders
Sub-category: Skeletal Dysplasias
Symptoms:
delayed closure of fontanelles; absent or hypoplastic clavicles; short stature; dental anomalies; wide-set eyes; flat nose bridge; scoliosis
Root Cause:
Mutation in the RUNX2 gene leading to impaired bone and dental development.
How it's Diagnosed: videos
Clinical evaluation of characteristic skeletal and dental abnormalities, genetic testing to confirm RUNX2 mutations, and radiographic imaging.
Treatment:
Orthopedic interventions for skeletal deformities, dental surgery for impacted teeth, and orthodontic treatment for alignment issues.
Medications:
No specific medications are indicated for cleidocranial dysplasia. Pain management, when needed, may include NSAIDs or muscle relaxants.
Prevalence:
How common the health condition is within a specific population.
Estimated at 1 in 1,000,000 individuals worldwide; more common in certain isolated populations.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal dominant inheritance; 70% of cases are familial, and 30% are de novo mutations.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with appropriate management; life expectancy is normal.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
dental infections; hearing loss; shoulder instability; spinal deformities
Fragile X syndrome
Specialty: Genetics
Category: Neurological and Neurodegenerative Disorders
Sub-category: Developmental Disorders
Symptoms:
intellectual disability; behavioral challenges; delayed speech and language development; anxiety; hyperactivity; sensory sensitivities; characteristic physical features such as long face, prominent ears, and flat feet
Root Cause:
Mutation in the FMR1 gene leading to a deficiency of the Fragile X Mental Retardation Protein (FMRP), which is critical for normal neural development.
How it's Diagnosed: videos
Diagnosed via genetic testing for FMR1 gene mutations.
Treatment:
Treatment includes supportive therapies, with medications like stimulants (e.g., methylphenidate) for ADHD symptoms and SSRIs for anxiety.
Medications:
Medications may include stimulants (e.g., methylphenidate for ADHD symptoms), selective serotonin reuptake inhibitors (SSRIs) for anxiety, and antipsychotics (e.g., risperidone ) for behavioral issues. These are classified as psychoactive medications.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 4,000 males and 1 in 8,000 females globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Fragile X syndrome or other genetic disorders.
Prognosis:
The expected outcome or course of the condition over time.
While there is no cure, early intervention and ongoing support can improve quality of life. Intellectual disability typically persists throughout life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of seizures, autism spectrum disorder, and social isolation.
Rett syndrome
Specialty: Genetics
Category: Neurological and Neurodegenerative Disorders
Sub-category: Developmental Disorders
Symptoms:
loss of purposeful hand skills; stereotypic hand movements; loss of speech; intellectual disability; gait abnormalities; seizures; breathing irregularities
Root Cause:
Mutations in the MECP2 gene on the X chromosome disrupt normal brain development and function.
How it's Diagnosed: videos
Diagnosed with genetic testing for MECP2 mutations.
Treatment:
Treated with supportive care, including physical and speech therapy, and medications like antiepileptics for seizures and muscle relaxants for spasticity.
Medications:
Anticonvulsants for seizures (e.g., valproic acid, levetiracetam ), beta-blockers for autonomic dysfunction, and anxiolytics for anxiety. These are classified as anticonvulsants, beta-blockers, and anxiolytics.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 10,000 to 15,000 live female births worldwide; rare in males.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Sporadic mutation; rarely inherited.
Prognosis:
The expected outcome or course of the condition over time.
Progressive disorder; life expectancy can be reduced due to complications such as respiratory issues, though some live into middle age with proper care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe mobility impairment, scoliosis, respiratory infections, and gastrointestinal problems.
Angelman syndrome
Specialty: Genetics
Category: Neurological and Neurodegenerative Disorders
Sub-category: Developmental Disorders
Symptoms:
severe intellectual disability; delayed development; speech impairment; frequent laughter or smiling; happy demeanor; ataxia; seizures; sleep disturbances
Root Cause:
Loss of function in the UBE3A gene due to deletion, mutation, or other genetic changes on chromosome 15 (maternal copy).
How it's Diagnosed: videos
Diagnosed via genetic testing for UBE3A gene abnormalities.
Treatment:
Treatment is supportive, with antiepileptics for seizures, physical therapy, and behavioral interventions.
Medications:
Anticonvulsants for seizures (e.g., clonazepam , topiramate ), and melatonin for sleep disturbances. These are classified as anticonvulsants and sleep aids.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 12,000 to 20,000 people globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Sporadic mutation or inheritance of paternal uniparental disomy (rare).
Prognosis:
The expected outcome or course of the condition over time.
No cure, but individuals can live into adulthood with proper care; intellectual disability and other symptoms are lifelong.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Seizures, scoliosis, feeding difficulties, and limited ability to live independently.
Friedreich’s Ataxia
Specialty: Genetics
Category: Neurological and Neurodegenerative Disorders
Sub-category: Neurodegenerative Disorders
Symptoms:
difficulty walking (ataxia); loss of sensation in arms and legs; speech difficulties (dysarthria); muscle weakness; scoliosis; diabetes; vision and hearing impairments
Root Cause:
Caused by a mutation in the FXN gene, leading to decreased production of frataxin, a protein essential for mitochondrial function, causing oxidative stress and cell damage, particularly in neurons and muscles.
How it's Diagnosed: videos
Clinical examination, family history, genetic testing for FXN gene mutation, and imaging studies such as MRI for neurological changes. Electromyography and nerve conduction studies may also be used.
Treatment:
No cure exists; management focuses on symptomatic relief through physical therapy, orthopedic interventions for scoliosis, and management of diabetes if present.
Medications:
While no disease-specific drugs exist, antioxidants like idebenone and experimental treatments targeting mitochondrial dysfunction are being studied. Symptomatic treatments include baclofen or tizanidine for spasticity.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 50,000 people are affected.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Inherited in an autosomal recessive manner; having two mutated copies of the FXN gene increases risk.
Prognosis:
The expected outcome or course of the condition over time.
Progressive condition with most individuals requiring a wheelchair within 10-20 years of onset. Life expectancy is often reduced due to cardiac complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiomyopathy, diabetes, scoliosis, and severe loss of mobility.
Spinal Muscular Atrophy (SMN1 Gene Mutation)
Specialty: Genetics
Category: Neurological and Neurodegenerative Disorders
Sub-category: Neurodegenerative Disorders
Symptoms:
muscle weakness and atrophy; difficulty breathing and swallowing; delayed motor development; floppy baby syndrome in severe cases; reduced or absent tendon reflexes
Root Cause:
Caused by mutations or deletions in the SMN1 gene, leading to insufficient production of the survival motor neuron (SMN) protein, essential for motor neuron health.
How it's Diagnosed: videos
Genetic testing to detect SMN1 mutations, electromyography to assess nerve-muscle interaction, and clinical evaluation of symptoms.
Treatment:
Disease-modifying therapies such as nusinersen, risdiplam, and onasemnogene abeparvovec-xioi (gene therapy) aim to increase SMN protein production. Supportive care includes respiratory support, physical therapy, and nutritional support.
Medications:
Nusinersen (antisense oligonucleotide), risdiplam (oral SMN2 splicing modifier), and onasemnogene abeparvovec-xioi (gene therapy).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 10,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance; both parents must carry a mutation in the SMN1 gene.
Prognosis:
The expected outcome or course of the condition over time.
Varies by type; early treatment can significantly improve outcomes. Without treatment, severe forms can be fatal in infancy or childhood.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, scoliosis, joint contractures, and feeding difficulties.
Amyotrophic Lateral Sclerosis (ALS) with Genetic Causes
Specialty: Genetics
Category: Neurological and Neurodegenerative Disorders
Sub-category: Neurodegenerative Disorders
Symptoms:
progressive muscle weakness; spasticity; difficulty speaking (dysarthria); difficulty swallowing (dysphagia); breathing difficulties; muscle twitching (fasciculations)
Root Cause:
Genetic mutations, such as in SOD1, C9orf72, TARDBP, or FUS, cause dysfunction in motor neuron function, leading to degeneration and muscle atrophy.
How it's Diagnosed: videos
Diagnosis is based on clinical evaluation, electromyography, nerve conduction studies, and genetic testing to confirm familial cases. MRI may exclude other conditions.
Treatment:
Disease-modifying drugs like riluzole and edaravone may slow progression. Supportive care includes physical therapy, speech therapy, and respiratory support.
Medications:
Riluzole (glutamate inhibitor) and edaravone (antioxidant) are FDA-approved for ALS. Symptomatic treatments include antispasticity drugs like baclofen or tizanidine .
Prevalence:
How common the health condition is within a specific population.
Familial ALS accounts for approximately 5-10% of ALS cases, with overall ALS prevalence being about 2 per 100,000 people annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of ALS, specific genetic mutations, and environmental factors may play a role.
Prognosis:
The expected outcome or course of the condition over time.
Typically progressive and fatal within 3-5 years of symptom onset, though some genetic forms have slower progression.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, malnutrition, communication difficulties, and significant caregiver burden.
Hyper-IgM Syndrome
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
recurrent respiratory and gastrointestinal infections; failure to thrive; enlarged lymph nodes; autoimmune conditions; opportunistic infections
Root Cause:
Mutations in genes affecting CD40-CD40L signaling, leading to defective immunoglobulin class switching and low IgA, IgG, and IgE levels with elevated IgM levels.
How it's Diagnosed: videos
Serum immunoglobulin levels (showing high IgM and low IgG, IgA, and IgE), genetic testing, and flow cytometry for CD40 ligand expression.
Treatment:
Immunoglobulin replacement therapy, prophylactic antibiotics to prevent infections, and bone marrow transplantation (potentially curative in severe cases).
Medications:
Intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) for antibody replacement; trimethoprim-sulfamethoxazole for Pneumocystis jirovecii prophylaxis; antifungals (e.g., fluconazole ) as needed.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 1,000,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
X-linked inheritance (most common type); family history of immunodeficiencies.
Prognosis:
The expected outcome or course of the condition over time.
Variable; severe infections and complications without treatment can reduce life expectancy, but prognosis improves significantly with immunoglobulin therapy and appropriate care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic liver disease, lymphoma, and severe opportunistic infections (e.g., Cryptosporidium leading to biliary tract complications).
Hereditary spherocytosis
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Hematologic Disorders
Symptoms:
anemia; jaundice; splenomegaly; fatigue; shortness of breath; gallstones
Root Cause:
Genetic defect in red blood cell membrane proteins (ankyrin, spectrin, or others), leading to spherical red blood cells that are prone to hemolysis.
How it's Diagnosed: videos
Blood smear (reveals spherocytes), osmotic fragility test, flow cytometry, and family history.
Treatment:
Splenectomy (if severe), folic acid supplementation, and managing anemia symptoms.
Medications:
Folic acid supplementation to support red blood cell production. No direct medication treats the structural defect; antibiotics or vaccines may be used prophylactically post-splenectomy.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 2,000 individuals of Northern European descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of hereditary spherocytosis.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with treatment; splenectomy significantly reduces hemolysis, but infection risks increase.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Gallstones, severe anemia, aplastic crises (especially following parvovirus B19 infection), and increased infection risk post-splenectomy.
Beta-thalassemia
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Hematologic Disorders
Symptoms:
severe anemia; jaundice; growth delays; bone deformities; splenomegaly; fatigue
Root Cause:
Mutation in the HBB gene leads to reduced or absent production of beta-globin chains, causing defective hemoglobin synthesis and hemolysis.
How it's Diagnosed: videos
Complete blood count (CBC), hemoglobin electrophoresis, and genetic testing.
Treatment:
Regular blood transfusions, iron chelation therapy, bone marrow transplantation in severe cases.
Medications:
Deferoxamine , deferasirox , or deferiprone for iron overload management; folic acid supplementation may support red blood cell production.
Prevalence:
How common the health condition is within a specific population.
Common in Mediterranean, Middle Eastern, and South Asian populations; carrier frequency varies regionally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, geographic origin (high prevalence in malaria-endemic regions).
Prognosis:
The expected outcome or course of the condition over time.
With treatment, patients can live into adulthood, though complications from iron overload and organ damage may occur.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Heart failure, liver disease, endocrine dysfunction (due to iron overload), and growth impairment.
Hemophilia A and B
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Hematologic Disorders
Symptoms:
prolonged bleeding; easy bruising; spontaneous joint bleeding; hematuria
Root Cause:
Deficiency or dysfunction of clotting factor VIII (Hemophilia A) or factor IX (Hemophilia B), leading to impaired blood clotting.
How it's Diagnosed: videos
Clotting tests (prolonged activated partial thromboplastin time [aPTT]), specific factor assays.
Treatment:
Replacement therapy with recombinant or plasma-derived clotting factors, prophylactic factor infusions.
Medications:
Recombinant factor VIII or IX, desmopressin (for mild Hemophilia A), emicizumab (a monoclonal antibody for Hemophilia A).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 5,000 male births (Hemophilia A); Hemophilia B is rarer.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history; more common in males due to X-linked inheritance.
Prognosis:
The expected outcome or course of the condition over time.
With prophylactic treatment, most individuals can lead near-normal lives; complications depend on access to treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Joint damage (hemarthrosis), intracranial hemorrhage, inhibitor development (antibodies against treatment factors).
Sickle cell disease
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Hematologic Disorders
Symptoms:
chronic anemia; pain crises; swelling in hands and feet; frequent infections; vision problems
Root Cause:
Mutation in the HBB gene leads to production of abnormal hemoglobin S, causing red blood cells to deform into a sickle shape and obstruct blood flow.
How it's Diagnosed: videos
Hemoglobin electrophoresis, blood smear, and genetic testing.
Treatment:
Pain management, hydroxyurea (to reduce sickling), blood transfusions, and bone marrow transplant in severe cases.
Medications:
Hydroxyurea (increases fetal hemoglobin levels), L-glutamine (reduces oxidative stress), voxelotor (improves hemoglobin function), crizanlizumab (reduces vaso-occlusive crises).
Prevalence:
How common the health condition is within a specific population.
Most common in African, Mediterranean, Middle Eastern, and Indian populations; affects approximately 1 in 365 African American births in the U.S.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, carrier status (sickle cell trait).
Prognosis:
The expected outcome or course of the condition over time.
Varies with treatment; life expectancy has improved with modern care but complications can limit quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Acute chest syndrome, stroke, organ damage (kidney, spleen, liver), infections, and pulmonary hypertension.
Angelman Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
severe developmental delays; speech impairment or absence of speech; frequent laughter or smiling; ataxia (balance and movement difficulties); seizures; intellectual disability; distinctive facial features; sleep disturbances
Root Cause:
Caused by loss of function of the UBE3A gene on the maternal copy of chromosome 15, typically due to a deletion, uniparental disomy, or mutation.
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation analysis, UBE3A gene testing, and fluorescence in situ hybridization [FISH]).
Treatment:
Supportive care, including physical therapy, speech therapy, behavioral interventions, anticonvulsants for seizures, and sleep management strategies.
Medications:
Anticonvulsants (e.g., valproic acid, levetiracetam ) for seizure control; melatonin or sedative medications for sleep disturbances.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 12,000 to 1 in 20,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific risk factors beyond genetic inheritance patterns; sporadic occurrence.
Prognosis:
The expected outcome or course of the condition over time.
Life expectancy is near normal, but individuals require lifelong supportive care due to severe developmental disabilities.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Seizures, sleep problems, scoliosis, difficulty with mobility, and feeding issues.
Beckwith-Wiedemann Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
overgrowth; macroglossia (enlarged tongue); abdominal wall defects; hypoglycemia in infancy; ear creases or pits; hemihyperplasia (asymmetric body growth); increased risk of embryonal tumors (e.g., wilms tumor, hepatoblastoma)
Root Cause:
Disruption of normal imprinting on chromosome 11p15, leading to overexpression or underexpression of growth-regulating genes (e.g., IGF2).
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation studies and chromosomal analysis), and screening for associated tumors.
Treatment:
Regular monitoring for tumors, management of hypoglycemia, surgical correction of macroglossia or abdominal wall defects, and supportive care for overgrowth-related issues.
Medications:
No specific medications; supportive care with glucose supplementation for hypoglycemia if needed.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 13,700 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Increased incidence in children conceived through assisted reproductive technologies (ART), although most cases are sporadic.
Prognosis:
The expected outcome or course of the condition over time.
With proper management, most individuals have a normal life expectancy. Regular cancer surveillance is critical in childhood.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Tumor development, feeding difficulties, respiratory issues (due to macroglossia), and orthopedic complications from overgrowth.
Silver-Russell Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
severe intrauterine growth restriction (iugr); failure to thrive; triangular facial appearance; asymmetry of the limbs or body; feeding difficulties; short stature; delayed bone age
Root Cause:
Disruption of normal imprinting on chromosome 11p15 or maternal uniparental disomy of chromosome 7; affects growth-regulating genes.
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation studies on chromosome 11p15 and chromosome 7).
Treatment:
Growth hormone therapy, nutritional support, and physical therapy to address growth and developmental issues.
Medications:
Growth hormone therapy (to improve height and growth); no specific medications beyond supportive care.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 30,000 to 1 in 100,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific risk factors beyond genetic inheritance patterns; sporadic occurrence.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy with proper management, though short stature and asymmetry may persist.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Feeding difficulties, hypoglycemia, delayed puberty, and psychosocial challenges related to growth delays and physical asymmetry.
Noonan Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Growth Disorders
Symptoms:
short stature; distinctive facial features; heart defects; webbed neck; developmental delays; low muscle tone; feeding difficulties in infancy
Root Cause:
Caused by mutations in genes involved in the RAS/MAPK signaling pathway, which is critical for cell division, differentiation, and growth.
How it's Diagnosed: videos
Clinical examination based on physical features and symptoms, genetic testing to confirm mutations in associated genes (e.g., PTPN11, SOS1, RAF1).
Treatment:
Multidisciplinary management addressing specific symptoms; growth hormone therapy for short stature, surgery for heart defects, physical therapy for low muscle tone.
Medications:
Growth hormone therapy (somatropin ) can be prescribed for short stature; it is a recombinant human growth hormone. Other treatments are symptom-specific rather than pharmacological.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 1,000 to 2,500 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Noonan syndrome (autosomal dominant inheritance); de novo mutations also occur.
Prognosis:
The expected outcome or course of the condition over time.
Variable; many individuals have normal life expectancy with management, though some may experience complications from cardiac issues.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Pulmonary valve stenosis, hypertrophic cardiomyopathy, learning disabilities, bleeding disorders, and increased cancer risk.
Russell-Silver Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Growth Disorders
Symptoms:
short stature; triangular-shaped face; body asymmetry; feeding difficulties; delayed bone age; hypoglycemia; micrognathia
Root Cause:
Abnormalities in genes regulating growth, often involving changes in chromosome 11p15 or maternal uniparental disomy of chromosome 7.
How it's Diagnosed: videos
Clinical evaluation based on characteristic features, genetic testing for epigenetic or chromosomal abnormalities.
Treatment:
Growth hormone therapy to improve height, nutritional support for feeding difficulties, and management of hypoglycemia.
Medications:
Growth hormone therapy (somatropin ) is often prescribed for short stature.
Prevalence:
How common the health condition is within a specific population.
Estimated to occur in 1 in 30,000 to 100,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Familial cases are rare; most are sporadic, linked to epigenetic and chromosomal changes.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with appropriate management, though stature often remains below average. Cognitive development is typically unaffected.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Feeding problems, delayed motor development, scoliosis, and hypoglycemia.
Weaver Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Growth Disorders
Symptoms:
accelerated growth in infancy; macrocephaly; distinctive facial features; joint laxity; intellectual disability; hypotonia; skeletal abnormalities
Root Cause:
Caused by mutations in the EZH2 gene, which is involved in chromatin remodeling and gene expression.
How it's Diagnosed: videos
Clinical examination of growth and developmental patterns, genetic testing for EZH2 mutations.
Treatment:
Supportive care for developmental delays, physical therapy for joint and muscle issues, orthopedic interventions for skeletal abnormalities.
Medications:
No specific medications are used for Weaver syndrome; treatment is symptomatic and supportive.
Prevalence:
How common the health condition is within a specific population.
Extremely rare, with only a few hundred cases reported worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Typically occurs sporadically due to de novo mutations, though familial cases with autosomal dominant inheritance are possible.
Prognosis:
The expected outcome or course of the condition over time.
Highly variable depending on the severity of symptoms and associated complications; intellectual disability may impact long-term outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Joint problems, scoliosis, delayed motor development, and increased risk of certain cancers.
Usher syndrome (hearing and vision loss)
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Sensory Disorders
Symptoms:
hearing loss; progressive vision loss (night blindness, tunnel vision); balance issues in some cases
Root Cause:
Mutations in genes affecting the development and function of the inner ear and retina, leading to sensorineural hearing loss and retinitis pigmentosa.
How it's Diagnosed: videos
Clinical examination, hearing tests, visual field tests, electroretinography, genetic testing for causative mutations.
Treatment:
No cure; management includes hearing aids, cochlear implants, vision aids, orientation and mobility training, and counseling.
Medications:
No specific medications treat the syndrome directly, but supplements like vitamin A palmitate may slow vision loss in some patients.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 4 to 17 in 100,000 people worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, particularly autosomal recessive inheritance patterns.
Prognosis:
The expected outcome or course of the condition over time.
Progressive hearing and vision loss over time; early intervention can improve quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Total blindness, profound hearing loss, and impaired mobility due to balance issues.
Alport syndrome (hearing loss, kidney disease)
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Multisystem Disorders
Symptoms:
hematuria (blood in urine); progressive hearing loss; proteinuria; kidney failure; ocular abnormalities in some cases
Root Cause:
Mutations in the COL4A3, COL4A4, or COL4A5 genes affecting type IV collagen, a structural component of the kidneys, cochlea, and eyes.
How it's Diagnosed: videos
Urinalysis, kidney biopsy, audiometry, eye examinations, and genetic testing.
Treatment:
Management includes blood pressure control, ACE inhibitors to slow kidney damage, hearing aids, and eventually dialysis or kidney transplantation for kidney failure.
Medications:
ACE inhibitors and ARBs (angiotensin receptor blockers) are the primary medications to slow kidney disease progression.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 50,000 newborns.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Alport syndrome or related kidney diseases.
Prognosis:
The expected outcome or course of the condition over time.
Kidney failure often occurs by the second or third decade of life in males; milder symptoms in females. Hearing aids and kidney transplantation can improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
End-stage renal disease, deafness, and eye abnormalities such as anterior lenticonus or corneal erosions.
Retinitis pigmentosa
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Sensory Disorders
Symptoms:
night blindness; progressive loss of peripheral vision; eventual loss of central vision in advanced stages
Root Cause:
Mutations in over 100 genes responsible for photoreceptor and retinal pigment epithelial function, leading to degeneration of rods and cones in the retina.
How it's Diagnosed: videos
Clinical examination, fundus photography, electroretinography, visual field testing, and genetic testing.
Treatment:
No cure; management includes low-vision aids, orientation and mobility training, and possibly gene therapy in the future.
Medications:
High-dose vitamin A palmitate may slow progression in some patients. Emerging treatments include gene therapy and retinal implants (in trials).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 4,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, particularly autosomal dominant, recessive, or X-linked inheritance patterns.
Prognosis:
The expected outcome or course of the condition over time.
Gradual progression to blindness, but some maintain central vision into later adulthood. Experimental therapies hold promise.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Blindness, psychological effects, and reduced mobility and independence.
Marfan Syndrome
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Connective Tissue Disorders
Symptoms:
tall stature; long limbs; chest wall deformities; lens dislocation; aortic aneurysm; joint hypermobility
Root Cause:
Mutations in the FBN1 gene, affecting fibrillin-1 production and weakening connective tissues.
How it's Diagnosed: videos
Clinical criteria (Ghent nosology), genetic testing, echocardiogram, and ophthalmologic exams.
Treatment:
Regular monitoring, lifestyle modifications, medications, and surgical interventions for severe aortic or skeletal abnormalities.
Medications:
Beta-blockers (e.g., atenolol ) to reduce stress on the aorta and angiotensin receptor blockers (e.g., losartan ) to slow aortic dilation.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 5,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Marfan syndrome, mutations in the FBN1 gene.
Prognosis:
The expected outcome or course of the condition over time.
Lifespan can be normal with proper management; untreated cases risk life-threatening aortic complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Aortic dissection, heart valve issues, vision problems, scoliosis, and joint dislocations.
Multiple Endocrine Neoplasia (MEN)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Endocrine Disorders
Symptoms:
hypercalcemia; diarrhea; abdominal pain; flushing; fatigue; palpitations; headaches; unintended weight changes; tumors in endocrine glands
Root Cause:
Caused by genetic mutations (e.g., MEN1, RET) leading to overgrowth of endocrine tissues, which form benign or malignant tumors.
How it's Diagnosed: videos
Blood tests (e.g., hormone levels such as calcium, PTH, or gastrin), imaging (MRI, CT), genetic testing for MEN1 or RET mutations, and family history analysis.
Treatment:
Surgical removal of tumors, monitoring hormone levels, symptomatic management, and targeted therapies for malignant cases.
Medications:
Medications include proton pump inhibitors (PPIs, e.g., omeprazole ) to reduce gastric acid secretion in Zollinger-Ellison syndrome and somatostatin analogs (e.g., octreotide ) for hormone-secreting tumors. Tyrosine kinase inhibitors (e.g., vandetanib ) may be used for medullary thyroid carcinoma.
Prevalence:
How common the health condition is within a specific population.
Rare; MEN1 affects 1 in 30,000 people, while MEN2 affects about 1 in 35,000 people.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN mutations, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Varies by subtype and treatment; early detection and management improve outcomes, but malignant forms may have a poorer prognosis.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cancer (e.g., medullary thyroid carcinoma, pancreatic neuroendocrine tumors), metastasis, organ damage due to hormonal overproduction, and recurrence of tumors.
Congenital Adrenal Hyperplasia (CAH)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Endocrine Disorders
Symptoms:
ambiguous genitalia in females; early onset puberty; rapid growth during childhood; short stature in adulthood; low blood pressure; electrolyte imbalances; dehydration; salt cravings
Root Cause:
Mutations in genes like CYP21A2 lead to impaired cortisol production and sometimes aldosterone deficiency, causing adrenal hyperplasia and excess androgen production.
How it's Diagnosed: videos
Newborn screening (17-hydroxyprogesterone levels), hormone assays, genetic testing, and family history.
Treatment:
Lifelong glucocorticoid and mineralocorticoid replacement therapy to normalize hormone levels, surgical correction for ambiguous genitalia (if needed), and salt supplements in severe cases.
Medications:
Common medications include hydrocortisone (glucocorticoid replacement), fludrocortisone (mineralocorticoid replacement), and sodium supplements for salt-wasting types. Dexamethasone or prednisone may be used in older patients.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 15,000 to 1 in 20,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of CAH, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate treatment, most individuals live normal lives; untreated, severe cases can result in adrenal crises and early mortality.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crises, infertility, psychological distress, and metabolic issues (e.g., obesity or osteoporosis) due to prolonged steroid therapy.
Polycystic Kidney Disease (PKD1, PKD2 mutations)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Kidney Disorders
Symptoms:
abdominal or flank pain; hematuria (blood in urine); frequent urinary tract infections; high blood pressure; kidney stones; progressive kidney failure; enlarged kidneys
Root Cause:
Genetic mutations in the PKD1 or PKD2 genes cause abnormal development of fluid-filled cysts in the kidneys, leading to progressive kidney damage.
How it's Diagnosed: videos
Diagnosed with imaging (e.g., ultrasound, MRI) and genetic testing.
Treatment:
Treated with tolvaptan to slow cyst growth, blood pressure management with ACE inhibitors/ARBs, and dialysis or kidney transplant for advanced disease.
Medications:
Tolvaptan (a vasopressin receptor antagonist) is often prescribed to slow cyst growth and preserve kidney function. Blood pressure medications such as ACE inhibitors or ARBs are used to control hypertension. Pain management may include acetaminophen or nonsteroidal anti-inflammatory drugs (with caution).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 400 to 1,000 individuals worldwide, making it one of the most common genetic kidney disorders.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of PKD, presence of PKD1 mutations (associated with more severe disease compared to PKD2 mutations), and advanced age.
Prognosis:
The expected outcome or course of the condition over time.
Progression to end-stage renal disease (ESRD) occurs in about 50% of patients by age 60. Lifelong management can improve quality of life and delay complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Kidney failure requiring dialysis or transplant, chronic pain, hypertension, liver cysts, cardiovascular disease, and increased risk of aneurysms.
Fetal Alcohol Syndrome
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Prenatal Conditions
Symptoms:
facial abnormalities (e.g., smooth philtrum, thin upper lip); growth deficiencies; developmental delays; intellectual disabilities; behavioral problems; poor coordination; vision or hearing problems
Root Cause:
Prenatal exposure to alcohol, which interferes with fetal brain and organ development.
How it's Diagnosed: videos
Clinical evaluation of facial features, growth measurements, developmental assessments, and maternal history of alcohol consumption during pregnancy.
Treatment:
Symptom management through special education services, behavioral therapies, and medical management for associated conditions (e.g., ADHD, sensory deficits).
Medications:
Psychostimulants (e.g., methylphenidate ) for ADHD symptoms, antidepressants (e.g., fluoxetine ) for mood disorders, and antipsychotics (e.g., risperidone ) for behavioral problems.
Prevalence:
How common the health condition is within a specific population.
Estimated at 0.2–1.5 per 1,000 live births in developed countries.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Maternal alcohol use during pregnancy, especially binge drinking or chronic alcohol consumption.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong condition with challenges in learning, social interactions, and independence, but early interventions can improve quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, behavioral problems, difficulty with independent living, mental health disorders, and social difficulties.
Infertility-related genetic conditions
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Reproductive Genetics
Symptoms:
difficulty conceiving; recurrent pregnancy loss; abnormal sperm parameters; failure to achieve pregnancy despite regular unprotected intercourse
Root Cause:
Genetic abnormalities such as chromosomal translocations, gene mutations, or microdeletions affecting reproductive function or gamete viability.
How it's Diagnosed: videos
Genetic testing (karyotyping, chromosomal microarray analysis, and specific gene testing), reproductive history evaluation, and fertility assessments.
Treatment:
Assisted reproductive technologies (ART) like IVF with preimplantation genetic testing, donor gametes, and hormonal therapies.
Medications:
Hormonal treatments, such as clomiphene citrate (a selective estrogen receptor modulator) to induce ovulation, or gonadotropins (FSH, LH) for controlled ovarian stimulation. Progesterone supplements are used to support implantation and pregnancy.
Prevalence:
How common the health condition is within a specific population.
Approximately 10–15% of couples worldwide experience infertility, with genetic factors contributing to 10–30% of cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of infertility, advanced maternal or paternal age, exposure to environmental toxins, and previous medical or genetic conditions.
Prognosis:
The expected outcome or course of the condition over time.
Variable depending on the specific genetic cause; many cases can be managed with assisted reproductive technologies or genetic counseling.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Emotional distress, financial burden, and increased risk of genetic conditions in offspring without proper testing.
Recurrent pregnancy loss due to chromosomal abnormalities
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Reproductive Genetics
Symptoms:
multiple miscarriages (usually three or more); early pregnancy losses; difficulty carrying a pregnancy to term
Root Cause:
Chromosomal abnormalities such as balanced translocations, inversions, or aneuploidy affecting embryo viability.
How it's Diagnosed: videos
Parental karyotyping, chromosomal analysis of miscarriage tissue, and genetic counseling.
Treatment:
IVF with preimplantation genetic testing (PGT) to select chromosomally normal embryos, use of donor gametes, or specialized fertility treatments.
Medications:
Progesterone supplements to support pregnancy, aspirin or heparin in cases of antiphospholipid syndrome (not directly genetic), and folic acid to reduce neural tube defect risk.
Prevalence:
How common the health condition is within a specific population.
Chromosomal abnormalities account for about 50–60% of first-trimester miscarriages; recurrent pregnancy loss affects about 1–2% of couples.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal or paternal age, prior history of pregnancy loss, family history of genetic disorders, and chromosomal rearrangements.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate interventions like PGT, many couples achieve successful pregnancies. Prognosis varies with the nature of chromosomal abnormality.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Emotional stress, higher risk of further miscarriages, and potential challenges in ART outcomes.
Non-obstructive azoospermia (genetic causes)
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Reproductive Genetics
Symptoms:
absence of sperm in semen analysis; infertility; possible hormonal imbalances; small or undescended testes
Root Cause:
Genetic abnormalities such as Y-chromosome microdeletions, Klinefelter syndrome (47,XXY), or other mutations affecting spermatogenesis.
How it's Diagnosed: videos
Semen analysis, hormonal testing (FSH, LH, testosterone), genetic testing (karyotyping, Y-chromosome microdeletion testing), and testicular biopsy.
Treatment:
Testicular sperm extraction (TESE) with ICSI, hormonal therapy to improve spermatogenesis, or use of donor sperm.
Medications:
Hormonal treatments such as human chorionic gonadotropin (hCG) or follicle-stimulating hormone (FSH) to stimulate sperm production in some cases. Antioxidants like coenzyme Q10 may be recommended to support fertility.
Prevalence:
How common the health condition is within a specific population.
Non-obstructive azoospermia affects about 1% of men and 10–15% of infertile men, with genetic causes accounting for 10–20% of cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of infertility, history of testicular trauma or infection, exposure to environmental toxins, and chromosomal abnormalities.
Prognosis:
The expected outcome or course of the condition over time.
Prognosis depends on the genetic cause; success rates are higher with ART like TESE-ICSI when viable sperm are present.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Emotional and psychological distress, challenges in achieving genetic parenthood, and increased risk of genetic abnormalities in offspring.