Genetic Conditions
Browse our database of genetic conditions with information from GeneReviews.
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Inheritance Patterns
Cystic Fibrosis
Gene: CFTR
A life-threatening genetic disorder that affects the lungs and digestive system. Caused by mutations in the CFTR gene, it results in thick, sticky mucus that clogs airways and blocks the …
Hereditary Breast and Ovarian Cancer (BRCA1/2)
Genes: BRCA1, BRCA2
An inherited cancer syndrome that significantly increases the risk of breast and ovarian cancers. BRCA1 carriers have up to 72% lifetime breast cancer risk.
Lynch Syndrome
Genes: MLH1, MSH2, MSH6, PMS2, EPCAM
Hereditary colorectal cancer syndrome that increases risk of colorectal, endometrial, and other cancers. Lifetime colorectal cancer risk up to 80%.
Familial Hypercholesterolemia
Genes: LDLR, APOB, PCSK9
Inherited high cholesterol that leads to early heart disease if untreated. LDL cholesterol is significantly elevated from birth.
Sickle Cell Disease
Gene: HBB
A blood disorder causing abnormal hemoglobin that distorts red blood cells into a sickle shape, causing pain crises and organ damage.
Huntington Disease
Gene: HTT
A progressive brain disorder causing uncontrolled movements, emotional problems, and loss of thinking ability. Symptoms typically begin in adulthood.
Spinal Muscular Atrophy
Gene: SMN1
A genetic neuromuscular disease affecting motor neurons, causing progressive muscle weakness. New treatments have transformed outcomes.
Phenylketonuria (PKU)
Gene: PAH
A metabolic disorder preventing breakdown of phenylalanine. Without dietary treatment, causes intellectual disability. Highly treatable with early diagnosis.
Tay-Sachs Disease
Gene: HEXA
A fatal genetic disorder causing progressive destruction of nerve cells. Classic infantile form causes death by age 4-5.
Fragile X Syndrome
Gene: FMR1
The most common inherited cause of intellectual disability and autism spectrum disorder. More severe in males.