Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Other congenital malformations of the digestive system (Q38-Q45)»Other congenital malformations of liver (Q44.7)
Q44.7
Other congenital malformations of liver
Related indications (MeSH) (1)
Alagille Syndrome6 drugs (6 approved)
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).