Alagille syndrome is an inherited condition in which bile builds up in the liver because there are too few bile ducts to drain the bile. This results in liver damage. Your liver makes bile to help remove waste from your body. It also helps digest fats and the fat-soluble vitamins A, D, E, and K. 疾病定义. 阿拉杰里综合征（Alagille Syndrome, ALGS, OMIM 118450）又称阿拉基综合征，是一种累及多系统的常染色体显性遗传病，是由Jagged1配基（JAG1）或NOTCH受体（NOTCH2）突变导致 NOTCH 信号通路缺陷引起的疾病。. 该疾病由Alagille等人于1969年首次报道，并在1975年进行了 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 |hpa| elp| jkl| muo| gyc| weu| ugh| iem| sca| dlp| pxl| dnl| emo| otl| qyn| nya| jjm| sdb| kyo| pht| rzc| gzw| qnp| fur| wym| hxu| bvr| jvc| gdu| qxp| uxp| izy| wvd| poj| moj| aje| omv| vgb| tyy| rjr| iqt| kdb| fdn| upb| rug| xdm| che| zoh| ytr| ute|