Condition Lookup
Sub-Category:
Autosomal Dominant Disorders
Number of Conditions: 7
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.