Structured Summary
Abstract
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).
MeSH Record
Classification
Related Concepts
Knowledge Graph
Drag nodes to rearrange; hover to trace links; click a node to open its page.
MeSH Record
Synonyms
30 entry terms
- 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, Syndromatic
- Hepatofacioneurocardiovertebral Syndrome
- Watson Alagille Syndrome
- Watson Miller Syndrome
- Watson-Miller syndrome
- Alagilles Syndrome
- Dysplasia, Arteriohepatic (AHD)
- Syndrome, Alagille
- Syndrome, Alagille Watson
- Syndrome, Alagille's
- Syndrome, Alagille-Watson
- Syndrome, Cardiovertebral
- Syndrome, Hepatofacioneurocardiovertebral
- Syndrome, Watson Alagille
- Syndrome, Watson Miller
- syndrome, Watson-Miller
- Alagille Syndrome 1
- Alagille Syndrome 2
- Hepatic Ductular Hypoplasia
- Paucity of Interlobular Bile Ducts
- Ductular Hypoplasia, Hepatic
- Hypoplasia, Hepatic Ductular
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
92
MeSH Record
Previous Indexing
- Abnormalities, Multiple (1981-1991)
- Bile Ducts, Intrahepatic/abnormalities (1980-1991)
- Cholestasis, Intrahepatic (1979-1991)
- Pulmonary Artery/abnormalities (1988-1991)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Alagille Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D016738. http://id.nlm.nih.gov/mesh/2026/D016738
- Alagille Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Alagille_syndrome
- Alagille Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1544408