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Descriptor English: Alagille Syndrome
Descriptor Spanish: Síndrome de Alagille
Descriptor Portuguese: Síndrome de Alagille
Descriptor French: Syndrome d'Alagille
Entry term(s): Alagille Syndrome 1
Alagille Syndrome 2
Alagille Watson Syndrome
Alagille's Syndrome
Alagille-Watson Syndrome
Alagilles Syndrome
Arteriohepatic Dysplasia
Arteriohepatic Dysplasia (AHD)
Cardiovertebral Syndrome
Cholestasis with Peripheral Pulmonary Stenosis
Ductular Hypoplasia, Hepatic
Dysplasia, Arteriohepatic
Dysplasia, Arteriohepatic (AHD)
Hepatic Ductular Hypoplasia
Hepatic Ductular Hypoplasia, Syndromatic
Hepatofacioneurocardiovertebral Syndrome
Hypoplasia, Hepatic Ductular
Paucity of Interlobular Bile Ducts
Syndrome, Alagille
Syndrome, Alagille Watson
Syndrome, Alagille's
Syndrome, Alagille-Watson
Syndrome, Cardiovertebral
Syndrome, Hepatofacioneurocardiovertebral
Syndrome, Watson Alagille
Syndrome, Watson Miller
Watson Alagille Syndrome
Watson Miller Syndrome
Watson-Miller syndrome
syndrome, Watson-Miller
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
RDF Unique Identifier: https://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).
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
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
DeCS ID: 30271
Unique ID: D016738
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1992/01/01
Date of Entry: 1991/04/29
Revision Date: 2013/07/08
Alagille Syndrome - Preferred
Concept UI M0025493
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).
Preferred term Alagille Syndrome
Entry term(s) Alagille Watson Syndrome
Alagille's Syndrome
Alagille-Watson Syndrome
Alagilles Syndrome
Arteriohepatic Dysplasia
Arteriohepatic Dysplasia (AHD)
Cardiovertebral Syndrome
Cholestasis with Peripheral Pulmonary Stenosis
Dysplasia, Arteriohepatic
Dysplasia, Arteriohepatic (AHD)
Hepatic Ductular Hypoplasia, Syndromatic
Hepatofacioneurocardiovertebral Syndrome
Syndrome, Alagille
Syndrome, Alagille Watson
Syndrome, Alagille's
Syndrome, Alagille-Watson
Syndrome, Cardiovertebral
Syndrome, Hepatofacioneurocardiovertebral
Syndrome, Watson Alagille
Syndrome, Watson Miller
Watson Alagille Syndrome
Watson Miller Syndrome
Watson-Miller syndrome
syndrome, Watson-Miller
Alagille Syndrome 2 - Narrower
Concept UI M0503819
Preferred term Alagille Syndrome 2
Paucity of Interlobular Bile Ducts - Related but not broader or narrower
Concept UI M0525097
Preferred term Paucity of Interlobular Bile Ducts
Entry term(s) Ductular Hypoplasia, Hepatic
Hepatic Ductular Hypoplasia
Hypoplasia, Hepatic Ductular
Alagille Syndrome 1 - Narrower
Concept UI M0503818
Preferred term Alagille Syndrome 1



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