Alagille 综合征 1
基因病名称(英)
Alagille syndrome 1
别名(英)
Alagille syndrome,Alagille-Watson syndrome,ALGS,AWS,Cholestasis with peripheral pulmonary stenosis
别名
Alagille 综合征,Alagille-Watson 综合征,ALGS,AWS,胆汁淤积伴外周肺动脉狭窄
统计
reviewed:1; annotated:0
交叉引用
118450,C0085280,C1956125,C2930797,D016738
描述(英)
A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
描述
Alagille 综合征的一种形式，一种常染色体显性遗传多系统疾病。它的临床定义是肝胆管缺乏和胆汁淤积，并伴有心脏、骨骼和眼科表现。有特征性的面部特征，肾脏和血管系统的临床受累频率较低。