/Alagille syndrome due to a NOTCH2 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Rare Disease

MONDO:0012439

Also Known As

Alagille syndrome due to a NOTCH2 point mutationAlagille syndrome type 2Alagille syndrome-NOTCH2Alagille-Watson syndrome due to a NOTCH2 point mutationArteriohepatic dysplasia due to a NOTCH2 point mutationsyndromic bile duct paucity due to a NOTCH2 point mutationALGS2Alagille syndrome 2

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.