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Alagille Syndrome

More information in Books or onNLM PubMed
Definition: 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).      Other names Dysplasia, Arteriohepatic; Arteriohepatic Dysplasia; syndrome, Watson-Miller; Syndromes, Hepatofacioneurocardiovertebral; Syndromes, Cardiovertebral; Syndromes, Alagille Watson; Syndrome, Watson Miller; Syndrome, Watson Alagille; Syndrome, Hepatofacioneurocardiovertebral; Syndrome, Cardiovertebral; Syndrome, Alagille; Hypoplasias, Hepatic Ductular; Syndrome, Alagille Watson; Hypoplasia, Hepatic Ductular; Hepatofacioneurocardiovertebral Syndromes; Hepatic Ductular Hypoplasias; Dysplasias, Arteriohepatic; Ductular Hypoplasias, Hepatic; Ductular Hypoplasia, Hepatic; Cardiovertebral Syndromes

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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