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Alagille Syndrome MeSH Descriptor Data 2022


MeSH Heading
Alagille Syndrome
Tree Number(s)
C06.130.120.135.250.125
C06.552.150.125
C14.240.400.044
C16.131.077.065
C16.131.240.400.044
C16.320.051
Unique ID
D016738
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D016738
Scope Note
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).
Entry Term(s)
Alagille Syndrome 1
Alagille Syndrome 2
Alagille Watson Syndrome
Alagille's Syndrome
Alagille-Watson Syndrome
Arteriohepatic Dysplasia
Arteriohepatic Dysplasia (AHD)
Cardiovertebral Syndrome
Cholestasis with Peripheral Pulmonary Stenosis
Dysplasia, Arteriohepatic
Hepatic Ductular Hypoplasia
Hepatic Ductular Hypoplasia, Syndromatic
Hepatofacioneurocardiovertebral Syndrome
Paucity of Interlobular Bile Ducts
Watson Alagille Syndrome
Watson Miller Syndrome
Watson-Miller syndrome
Previous Indexing
Abnormalities, Multiple (1981-1991)
Bile Ducts, Intrahepatic/abnormalities (1980-1991)
Cholestasis, Intrahepatic (1979-1991)
Pulmonary Artery/abnormalities (1988-1991)
Public MeSH Note
92
History Note
92
Date Established
1992/01/01
Date of Entry
1991/04/29
Revision Date
2013/07/08
Alagille Syndrome Preferred
Alagille Syndrome 2 Narrower
Paucity of Interlobular Bile Ducts Related
Alagille Syndrome 1 Narrower
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