CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. CHARGE syndrome is most often caused by...

Eosinophilic Granulomatosis With Polyangiitis (EPGA)

Other Names: CSS; Allergic granulomatous and angiitis; Allergic angiitis and granulomatosis; Allergic granulomatosis; Churg-Strauss vasculitis; Granulomatous allergic angiitis; Churg-Strauss syndrome; EGPA Eosinophilic granulomatosis with polyangiitis (EGPA), also...

Gaucher Disease

Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the...

22q11.2 Deletion Syndrome

Other Names: Chromosome 22q11.2 deletion syndrome; Velocardiofacial syndrome; VCFS; DiGeorge syndrome; Shprintzen syndrome; Sedlackova syndrome; CATCH22; Autosomal dominant Opitz G/BBB syndrome; Conotruncal anomaly face syndrome; Cayler cardiofacial syndrome. 22q11.2...

Pompe Disease (also called Glycogen storage disease type 2)

Overview Pompe disease, also known as Glycogen storage disease type 2 is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source...

Pulmonary Arterial Hypertension

Overview Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason. The pulmonary arteries are the blood vessels that carry blood...
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