 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 |
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| 2022 | 1 | 0 | 1 | | 2023 | 1 | 0 | 1 | | 2024 | 1 | 0 | 1 | | 2025 | 3 | 0 | 3 |
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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Perez CFM, Vandriel SM, Gonzales EM, Wang JS, Li LT, She H, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, Jacquemin E, Bouligand J, D'Antiga L, Nicastro E, Fischler B, Arnell H, Siew SM, Stormon M, Loomes KM, Piccoli DA, Rand EB, Squires JE, Karpen SJ, Romero R, Kasahara M, ?nal Z, Sokal ?, Demaret T, Wiecek S, Lacaille F, Debray D, Hardikar W, Shankar S, Valentino PL, Sundaram SS, Ebel NH, Feinstein JA, Waisbourd-Zinman O, Lin HC, Rock N, Verkade HJ, Jensen MK, Jaramillo C, Kim KM, Oh SH, Brecemiclj J, Alam S, Indolfi G, Blondet N, Fawaz R, Nastasio S, Calvo PL, Nebbia G, Arikan C, Larson-Nath C, Zizzo AN, Sandahl TD, Tzivinikos C, El-Koofy NM, Elmonem MA, Aqul AA, Karnsakul W, Bulut P, Kerkar N, Wolters VM, Roberts AJ, Evans HM, Sanchez MC, Cavalieri ML, Kelly DA, Hartley J, Lee WS, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Bernabeu JQ, Quiros-Tejeira RE, Ferreira CT, Carvalho E, Eshun J, Zellos A, Dezsofi A, Pinto RB, Schwarz K, Rogalidou M, Garcia J, Tamara ML, Beretta M, Mujawar Q, Santos-Silva E, Busoms CM, Lurz E, Gon?alves C, Jimenez-Rivera C, Banales JM, Thompson RJ, Hansen BE, Kamath BM. Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group. Liver Int. 2025 Dec; 45(12):e70423.
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Huysentruyt K, Vandriel SM, Roelants M, Piccoli DA, Loomes KM, Rand EB, Ebel NH, Feinstein JA, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, Gonzales EM, Jacquemin E, Bouligand J, Karpen SJ, Romero R, Lin HC, Fischler B, Arnell H, Li LT, Wang JS, Fawaz R, Nastasio S, Kim KM, Oh SH, D'Antiga L, Nicastro E, Fischer RT, Siew SM, Stormon M, Lertudomphonwanit C, Hardikar W, Shankar S, Squires JE, Sundaram SS, Larson-Nath C, Kelly DA, Hartley J, Bulut P, Jensen MK, Jaramillo C, Roberts AJ, Evans HM, Sokal ?M, Demaret T, Verkade HJ, Thompson RJ, Hansen BE, Cole TJ, Kamath BM, Debray D, Lacaille F, Brecelj J, El-Koofy NM, Elmonem MA, Lee WS, Sanchez MC, Cavalieri ML, Hajinicolaou C, Schwarz KB, Carvalho E, Rock N, Karnsakul W, Quiros-Tejeira RE, Alam S, Nebbia G, Mozer-Glassberg Y, Valentino PL, Santos-Silva E, ?nal Z, Dezsofi-Gottl A, Melere M, Legarda Tamara M, Eshun J, Zellos A, Indolfi G, Rogalidou M, Blondet N, Luigi Calvo P, Beretta M, Zizzo AN, Arikan C, Kasahara M, Kerkar N, Aqul AA, Wolters VM, Borges Pinto R, Quintero Bernabeu J, Garcia J, Wiecek S, Tzivinikos C, Mujawar Q, Jimenez-Rivera C, Molera Busoms C, Gon?alves C, Bujanda L. Condition-Specific Growth Charts for Children With Alagille Syndrome. JAMA Netw Open. 2025 11 03; 8(11):e2545294.
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Vandriel SM, Li LT, She H, Wang JS, Loomes KM, Piccoli DA, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, D'Antiga L, Nicastro E, Lacaille F, Debray D, Sokal ?M, Demaret T, Fawaz RL, Nastasio S, Kim KM, Oh SH, Fischler B, Arnell H, Larson-Nath C, Hardikar W, Shankar S, Sundaram SS, Chaidez A, Bulut P, Calvo PL, Kasahara M, Blondet N, Lurz E, Kavallar AM, Gonzales EM, Jacquemin E, Bouligand J, Ebel NH, Feinstein JA, Siew SM, Stormon MO, Karpen SJ, Romero R, Jensen MK, Jaramillo C, Squires JE, Bedoyan SM, Kelly DA, Hartley J, Verkade HJ, Lee WS, Lertudomphonwanit C, Fischer RT, Lin HC, Rock N, Mozer-Glassberg Y, Roberts AJ, Evans HM, Karnsakul W, Nebbia G, Wolters VM, Valentino PL, Bernabeu JQ, Aqul AA, Arikan C, Tamara ML, Busoms CM, Sandahl TD, Indolfi G, Zizzo AN, Zellos A, Quiros-Tejeira RE, Santos-Silva E, Schwarz KB, Brecelj J, Sanchez MC, Cavalieri ML, Tzivinikos C, Wiecek S, Eshun J, Kerkar N, Mujawar Q, ?nal Z, Gon?alves C, Garcia J, Alam S, Jimenez-Rivera C, Bujanda L, Thompson RJ, Hansen BE, Spinner NB, Gilbert MA, Kamath BM. Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines. Liver Int. 2025 Sep; 45(9):e70251.
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Ovchinsky N, Aumar M, Baker A, Baumann U, Bufler P, Cananzi M, Czubkowski P, Durmaz ?, Fischer R, Indolfi G, Karnsakul WW, Lacaille F, Lee WS, Maggiore G, Rosenthal P, Ruiz M, Sokal E, Sturm E, van der Woerd W, Verkade HJ, Wehrman A, Clemson C, Yu Q, Ni Q, Ruvido J, Manganaro S, Mattsson JP. Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial. Lancet Gastroenterol Hepatol. 2024 Jul; 9(7):632-645.
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Hansen BE, Vandriel SM, Vig P, Garner W, Mogul DB, Loomes KM, Piccoli DA, Rand EB, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, Gonzales EM, Jacquemin E, Bouligand J, D'Antiga L, Nicastro E, Arnell H, Fischler B, Sokal ?, Demaret T, Siew S, Stormon M, Karpen SJ, Romero R, Ebel NH, Feinstein JA, Roberts AJ, Evans HM, Sundaram SS, Chaidez A, Hardikar W, Shankar S, Fischer RT, Lacaille F, Debray D, Lin HC, Jensen MK, Jaramillo C, Karthikeyan P, Indolfi G, Verkade HJ, Larson-Nath C, Quiros-Tejeira RE, Valentino PL, Rogalidou M, Dezsofi A, Squires JE, Schwarz K, Calvo PL, Bernabeu JQ, Zizzo AN, Nebbia G, Bulut P, Santos-Silva E, Fawaz R, Nastasio S, Karnsakul W, Tamara ML, Busoms CM, Kelly DA, Sandahl TD, Jimenez-Rivera C, Banales JM, Mujawar Q, Li LT, She H, Wang JS, Kim KM, Oh SH, Sanchez MC, Cavalieri ML, Lee WS, Hajinicolaou C, Lertudomphonwanit C, Waisbourd-Zinman O, Arikan C, Alam S, Carvalho E, Melere M, Eshun J, ?nal Z, Desai DM, Wiecek S, Pinto RB, Wolters VM, Garcia J, Beretta M, Kerkar N, Brecelj J, Rock N, Lurz E, Blondet N, Shah U, Thompson RJ, Kamath BM. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology. 2024 06 01; 79(6):1279-1292.
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Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal ?, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly DA, Carvalho E, Ferreira CT, Indolfi G, Quiros-Tejeira RE, Bulut P, Calvo PL, ?nal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, Dezsofi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Busoms CM, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Hansen BE, Kamath BM. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology. 2023 02 01; 77(2):512-529.
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