H00551 | |
H number | H00551 |
Name | Alagille syndrome |
Description | Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause ALGS. |
Category | Congenital malformation |
Network | - |
Gene | (ALGS1) JAG1 [HSA:182] [KO:K06052] (ALGS2) NOTCH2 [HSA:4853] [KO:K20994] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Maralixibat chloride [DR:D10952] Odevixibat [DR:D11716] |
Comment | - |
Other DBs | ICD-11: LB20.Y ICD-10: Q44.7 MeSH: D016738 OMIM: 118450 610205 |
Reference | PMID:21532774 AUTHORS Richards AA, Garg V TITLE Genetics of congenital heart disease. JOURNAL Curr Cardiol Rev 6:91-7 (2010) DOI:10.2174/157340310791162703 PMID:16773578 AUTHORS McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB TITLE NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. JOURNAL Am J Hum Genet 79:169-73 (2006) DOI:10.1086/505332 PMID:17600784 AUTHORS Shifley ET, Cole SE TITLE The vertebrate segmentation clock and its role in skeletal birth defects. JOURNAL Birth Defects Res C Embryo Today 81:121-33 (2007) DOI:10.1002/bdrc.20090 |