Condition Lookup
Category:
Genetic Contributions to Common Diseases
Number of Conditions: 8
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.
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.
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.