Alagille syndrome due to a NOTCH2 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Definition
A genetic condition caused by pathogenic variants in the NOTCH2 gene upstream of those implicated with Hajdu-Cheney syndrome. The mechanism of pathogenicity for Alagille syndrome appears to be haploinsufficiency. Key features include bile duct paucity, cholestasis, congenital heart defects, butterfly vertebrae, posterior embryotoxon, and distinctive facial characteristics. Renal abnormalities may also be present.
Also known as Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome type 2, Alagille syndrome-NOTCH2, Alagille-Watson syndrome due to a NOTCH2 point mutation, Arteriohepatic dysplasia due to a NOTCH2 point mutation, syndromic bile duct paucity due to a NOTCH2 point mutation — per MONDO