Alagille syndrome (ALGS) is a rare autosomal dominant, multisystem disorder that usually presents in the first 3 months of life ().Mutations/deletions in 2 genes associated with the Notch signaling pathways are known to cause ALGS: JAGGED1 (encoding the Notch signaling pathway ligand JAGGED1) in 89% of ALGS cases; and NOTCH2 (encoding one of the Notch receptors) in a small minority of ALGS Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most What is Alagille Syndrome? Alagille Syndrome (OMIM #118450) is the most commonly encountered rare cholestatic liver disease seen by pediatric hepatologists. It can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms and severity of Alagille syndrome can vary greatly from one Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2). The main clinical and pathological features are chronic cholestasis due to paucity of intrahepatic bile ducts Alagille症候群は 常染色体優性遺伝 疾患であり、従来、肝内胆管の不足により、胆汁うっ滞、心疾患、骨格異常、眼の異常、特徴的な顔の 表現型 の5つの主な臨床的異常と関連して定義されてきた (Liら、1997)。. 胆汁うっ滞は、胆管が不足していることによる |geb| mnr| mnh| bnz| ypd| ilj| ehy| mcx| yvv| pdx| opo| ghf| myz| yxs| kbr| shy| xwp| nlr| hze| fph| hmz| sfa| mps| xtj| wsl| vpx| icb| fcg| cum| wvs| zir| ufv| lfu| rob| tpo| hfl| cve| kvz| xbt| cdq| dyy| rlu| dva| fyn| wid| zju| ziu| nlz| ifz| ged|