Alagille syndrome is a genetic disorder that affects primarily the liver and the heart.
Alagille syndrome is a complex multisystem disorder that affects the liver, brain, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood.
Alagille syndrome is caused by loss of function mutations in either JAG1 (Jagged1) or NOTCH2 (Notch homolog 2).
Between 1:30’000 to 1:45’000