Alagille Syndrome

"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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 Alagille Syndrome 2 Alagille Syndrome 2 Paucity of Interlobular Bile Ducts Paucity of Interlobular Bile Ducts Hepatic Ductular Hypoplasia Ductular Hypoplasia, Hepatic Hypoplasia, Hepatic Ductular Alagille Syndrome 1 Alagille Syndrome 1

Below are MeSH descriptors whose meaning is more general than "Alagille Syndrome".

Diseases [C]
Digestive System Diseases [C06]
Biliary Tract Diseases [C06.130]
Bile Duct Diseases [C06.130.120]
Cholestasis [C06.130.120.135]
Cholestasis, Intrahepatic [C06.130.120.135.250]
Alagille Syndrome [C06.130.120.135.250.125]
Liver Diseases [C06.552]
Cholestasis, Intrahepatic [C06.552.150]
Alagille Syndrome [C06.552.150.125]
Cardiovascular Diseases [C14]
Cardiovascular Abnormalities [C14.240]
Heart Defects, Congenital [C14.240.400]
Alagille Syndrome [C14.240.400.044]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Alagille Syndrome [C16.131.077.065]
Cardiovascular Abnormalities [C16.131.240]
Heart Defects, Congenital [C16.131.240.400]
Alagille Syndrome [C16.131.240.400.044]
Genetic Diseases, Inborn [C16.320]
Alagille Syndrome [C16.320.051]

Below are MeSH descriptors whose meaning is related to "Alagille Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Alagille Syndrome".

publications

Timeline | Most Recent

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.

Bar chart showing 6 publications over 5 distinct years, with a maximum of 2 publications in 2010

To see the data from this visualization as text, click here.

Year	Major Topic	Total
1998	1	1
2010	2	2
2011	1	1
2015	1	1
2019	1	1

Below are the most recent publications written about "Alagille Syndrome" by people in Profiles.

Ferrara G, Giani T, Lieberman SM, Kremer C, Hong S, Indolfi G, Schulert G, Cron RQ, Mannion ML, Lapidus S, Armbrust W, Gonzales E, Jacquemin E, Kon?-Paut I, Cimaz R. Alagille Syndrome and Chronic Arthritis: An International Case Series. J Pediatr. 2020 03; 218:228-230.e1.

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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.

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Hori T, Egawa H, Takada Y, Oike F, Kasahara M, Ogura Y, Sakamoto S, Ogawa K, Yonekawa Y, Nguyen JH, Doi H, Ueno M, Uemoto S. Long-term outcomes after living-donor liver transplantation for Alagille syndrome: a single center 20-year experience in Japan. Am J Transplant. 2010 Aug; 10(8):1951-2.

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Mouzaki M, Nichter C, Qureshi M, Rountree B, Furuya KN. Idiopathic intracranial hypertension in two patients with Alagille syndrome. J Child Neurol. 2010 Aug; 25(8):1006-8.

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Choudhry DK, Rehman MA, Schwartz RE, Piccoli DA. The Alagille's syndrome and its anaesthetic considerations. Paediatr Anaesth. 1998; 8(1):79-82.

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Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA. Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. Am J Hum Genet. 1994 Aug; 55(2):238-43.

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Wells KK, Pulido JS, Judisch GF, Ossoinig KC, Fisher TC, LaBrecque DR. Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia). J Pediatr Ophthalmol Strabismus. 1993 Mar-Apr; 30(2):130-5.

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Marino IR, ChapChap P, Esquivel CO, Zetti G, Carone E, Borland L, Tzakis AG, Todo S, Rowe MI, Starzl TE. Liver transplantation for arteriohepatic dysplasia (Alagille's syndrome). Transpl Int. 1992 May; 5(2):61-4.

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