Alagille syndrome due to a NOTCH2 point mutation
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.
MONDO:0007318
Alagille syndrome
is_a
ALGS2
related
Alagille syndrome 2
related
Alagille syndrome due to a NOTCH2 point mutation
exact
Alagille syndrome type 2
exact
Alagille syndrome-NOTCH2
exact
Alagille-Watson syndrome due to a NOTCH2 point mutation
exact
Arteriohepatic dysplasia due to a NOTCH2 point mutation
exact
syndromic bile duct paucity due to a NOTCH2 point mutation
exact