"Alagille Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
| Descriptor ID |
D016738
|
| MeSH 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
|
| Concept/Terms |
Alagille Syndrome- Alagille Syndrome
- Syndrome, Alagille
- Alagille's Syndrome
- Alagilles Syndrome
- Syndrome, Alagille's
- Alagille-Watson Syndrome
- Syndrome, Alagille-Watson
- Arteriohepatic Dysplasia
- Cardiovertebral Syndrome
- Syndrome, Cardiovertebral
- Arteriohepatic Dysplasia (AHD)
- Dysplasia, Arteriohepatic (AHD)
- Dysplasia, Arteriohepatic
- Hepatic Ductular Hypoplasia, Syndromatic
- Hepatofacioneurocardiovertebral Syndrome
- Syndrome, Hepatofacioneurocardiovertebral
- Watson Alagille Syndrome
- Syndrome, Watson Alagille
- Watson Miller Syndrome
- Syndrome, Watson Miller
- Watson-Miller syndrome
- syndrome, Watson-Miller
- Alagille Watson Syndrome
- Syndrome, Alagille Watson
- Cholestasis with Peripheral Pulmonary Stenosis
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Below are MeSH descriptors whose meaning is more general than "Alagille Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Alagille Syndrome".
This graph shows the total number of publications written about "Alagille Syndrome" by people in this website by year, and whether "Alagille Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Alagille Syndrome" by people in Profiles.
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Mouzaki M, Bass LM, Sokol RJ, Piccoli DA, Quammie C, Loomes KM, Heubi JE, Hertel PM, Scheenstra R, Furuya K, Kutsch E, Spinner NB, Robbins KN, Venkat V, Rosenthal P, Beyene J, Baker A, Kamath BM. Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. Liver Int. 2016 05; 36(5):755-60.
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Treff NR, Tao X, Schillings WJ, Bergh PA, Scott RT, Levy B. Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril. 2011 Jul; 96(1):e58-65.