| Descriptor English: | Alagille Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Alagille
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| 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 |
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| 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 |
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| 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). |
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| 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 |
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| Previous Indexing: |
Abnormalities, Multiple (1981-1991) Bile Ducts, Intrahepatic/abnormalities (1980-1991) Cholestasis, Intrahepatic (1979-1991) Pulmonary Artery/abnormalities (1988-1991) |
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| Public MeSH Note: | 92 |
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| History Note: | 92 |
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| 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 |
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Alagille Syndrome
- Preferred
Alagille Syndrome 2
- Narrower
Paucity of Interlobular Bile Ducts
- Related but not broader or narrower
Alagille Syndrome 1
- Narrower
| 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 |
| Concept UI |
M0503819 |
| Preferred term | Alagille Syndrome 2 |
| Concept UI |
M0525097 |
| Preferred term | Paucity of Interlobular Bile Ducts |
| Entry term(s) |
Ductular Hypoplasia, Hepatic Hepatic Ductular Hypoplasia Hypoplasia, Hepatic Ductular |
| Concept UI |
M0503818 |
| Preferred term | Alagille Syndrome 1 |
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