Alagille syndrome is a multi-system disorder that is mainly characterised by liver damage triggered by anomalies in the bile ducts. The disease is caused by mutations in either the Jagged-1 (JAG1) or Notch-2 (NOTCH2) genes.
Congenital malformations, deformations and chromosomal abnormalities
Autosomal dominant
20p12.2
Alagille syndrome is a multi-system disorder that is mainly characterised by liver damage triggered by anomalies in the bile ducts. The disease is caused by mutations in either the Jagged-1 (JAG1) or Notch-2 (NOTCH2) genes.