Alagille Syndrome 1 (ALGS1)

Alias:

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Hepatic Ductular Hypoplasia

Cholestasis with Peripheral Pulmonary Stenosis

Alagille Syndrome Due to a Jag1 Point Mutation

Syndromic Bile Duct Paucity

Alagille Syndrome Due to 20p12 Microdeletion

Algs1

Algs

Aws

Syndromic Bile Duct Paucity Due to a Jag1 Point Mutation

Alagille-Watson Syndrome Due to a Jag1 Point Mutation

Arteriohepatic Dysplasia Due to a Jag1 Point Mutation

Syndromic Bile Duct Paucity Due to Monosomy 20p12

Alagille-Watson Syndrome Due to Monosomy 20p12

Arteriohepatic Dysplasia Due to Monosomy 20p12

Hepatic Ductular Hypoplasia, Syndromatic

Hepatofacioneurocardiovertebral Syndrome

Alagille Syndrome Due to Monosomy 20p12

Alagille Syndrome Due to Del(20)(p12)

Paucity of Interlobular Bile Ducts

Hypoplasia Hepatic Ductular

Alagille Syndrome, Type 1

Cardiovertebral Syndrome

Watson-Miller Syndrome

Alagille's Syndrome

Ahd

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

阿拉吉尔综合症1，也被称为阿拉吉尔综合症，与胆汁淤积和胆道闭锁有关。与阿拉吉尔综合症1相关的基因是JAG1（Jagged Canonical Notch Ligand 1），其相关通路/超级通路包括基因表达（转录）和传染病。在该疾病的背景下提到了苯佐卡因和阿托伐他汀。附属组织包括头间质、肝脏和心脏，相关表型为生长发育不良和肝大。

Related ID：

MALACARDS：ALG028

OMIM：118450

MESH：D016738