Mesh term Alagille Syndrome
Browse to parent terms:Abnormalities, Multiple
Cholestasis, Intrahepatic
Genetic Diseases, Inborn
Heart Defects, Congenital
Description
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).Search for this term in our Faculty Database
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