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

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Alagille Syndrome 1, also known as alagille syndrome, is related to cholestasis and biliary atresia. An important gene associated with Alagille Syndrome 1 is JAG1 (Jagged Canonical Notch Ligand 1), and among its related pathways/superpathways are Gene expression (Transcription) and Infectious disease. The drugs Benzocaine and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include Head Mesenchyme, Liver and heart, and related phenotypes are failure to thrive and hepatomegaly

Related ID：

MALACARDS：ALG028

OMIM：118450

MESH：D016738