 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.
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
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| 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
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| 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 |
|---|
| 1995 | 1 | 0 | 1 | | 1998 | 0 | 1 | 1 | | 1999 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2004 | 1 | 1 | 2 | | 2009 | 0 | 1 | 1 | | 2010 | 1 | 0 | 1 | | 2012 | 1 | 1 | 2 | | 2014 | 1 | 0 | 1 | | 2015 | 2 | 1 | 3 | | 2016 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2022 | 4 | 0 | 4 | | 2023 | 1 | 0 | 1 | | 2024 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Alagille Syndrome" by people in Profiles.
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Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ. Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases. Hepatol Commun. 2024 01 01; 8(1).
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Sokol RJ, Gonzales EM, Kamath BM, Baker A, Vig P, Mogul DB, Garner W, Hansen BE, Jacquemin E, Thompson RJ. Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor. Hepatology. 2023 12 01; 78(6):1698-1710.
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Leung DH, Devaraj S, Goodrich NP, Chen X, Rajapakshe D, Ye W, Andreev V, Minard CG, Guffey D, Molleston JP, Bass LM, Karpen SJ, Kamath BM, Wang KS, Sundaram SS, Rosenthal P, McKiernan P, Loomes KM, Jensen MK, Horslen SP, Bezerra JA, Magee JC, Merion RM, Sokol RJ, Shneider BL, Alonso E, Bass L, Kelly S, Riordan M, Melin-Aldana H, Bezerra J, Bove K, Heubi J, Miethke A, Tiao G, Denlinger J, Chapman E, Sokol R, Feldman A, Mack C, Narkewicz M, Suchy F, Sundaram SS, Van Hove J, Garcia B, Kauma M, Kocher K, Steinbeiss M, Lovell M, Loomes KM, Piccoli D, Rand E, Russo P, Spinner N, Erlichman J, Stalford S, Pakstis D, King S, Squires R, Sindhi R, Venkat V, Bukauskas K, McKiernan P, Haberstroh L, Squires J, Rosenthal P, Bull L, Curry J, Langlois C, Kim G, Teckman J, Kociela V, Nagy R, Patel S, Cerkoski J, Molleston JP, Bozic M, Subbarao G, Klipsch A, Sawyers C, Cummings O, Horslen SP, Murray K, Hsu E, Cooper K, Young M, Finn L, Kamath BM, Ng V, Quammie C, Putra J, Sharma D, Parmar A, Guthery S, Jensen K, Rutherford A, Lowichik A, Book L, Meyers R, Hall T, Wang KS, Michail S, Thomas D, Goodhue C, Kohli R, Wang L, Soufi N, Thomas D, Karpen S, Gupta N, Romero R, Vos MB, Tory R, Berauer JP, Abramowsky C, McFall J, Shneider BL, Harpavat S, Hertel P, Leung D, Tessier M, Schady D, Cavallo L, Olvera D, Banks C, Tsai C, Thompson R, Doo E, Hoofnagle J, Sherker A, Torrance R, Hall S, Magee J, Merion R, Spino C, Ye W. Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease. Hepatology. 2023 02 01; 77(2):530-545.
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Shneider BL, Spino CA, Kamath BM, Magee JC, Ignacio RV, Huang S, Horslen SP, Molleston JP, Miethke AG, Kohli R, Leung DH, Jensen MK, Loomes KM, Karpen SJ, Mack C, Rosenthal P, Squires RH, Baker A, Rajwal S, Kelly D, Sokol RJ, Thompson RJ. Impact of long-term administration of maralixibat on children with cholestasis secondary to Alagille syndrome. Hepatol Commun. 2022 08; 6(8):1922-1933.
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Shneider BL, Kamath BM, Magee JC, Goodrich NP, Loomes KM, Ye W, Spino C, Alonso EM, Molleston JP, Bezerra JA, Wang KS, Karpen SJ, Horslen SP, Guthery SL, Rosenthal P, Squires RH, Sokol RJ. Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases-Examination of cholestatic liver disease in Alagille syndrome. Hepatol Commun. 2022 08; 6(8):1910-1921.
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Leung DH, Sorensen LG, Ye W, Hawthorne K, Ng VL, Loomes KM, Fredericks EM, Alonso EM, Heubi JE, Horslen SP, Karpen SJ, Molleston JP, Rosenthal P, Sokol RJ, Squires RH, Wang KS, Kamath BM, Magee JC. Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver. J Pediatr Gastroenterol Nutr. 2022 01 01; 74(1):96-103.
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Tcheandjieu C, Aguirre M, Gustafsson S, Saha P, Potiny P, Haendel M, Ingelsson E, Rivas MA, Priest JR. A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS Genet. 2020 11; 16(11):e1008802.
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Srinivasan S, Howley LW, Cuneo BF, Chatfield KC. In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy. J Perinatol. 2018 11; 38(11):1453-1456.
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Wu KY, Treece AL, Russo PA, Wen JW. An Atypical Presentation of Alagille Syndrome. Pediatr Dev Pathol. 2018 Jan-Feb; 21(1):79-83.
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Verkade HJ, Bezerra JA, Davenport M, Schreiber RA, Mieli-Vergani G, Hulscher JB, Sokol RJ, Kelly DA, Ure B, Whitington PF, Samyn M, Petersen C. Biliary atresia and other cholestatic childhood diseases: Advances and future challenges. J Hepatol. 2016 09; 65(3):631-42.
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