Alagille Syndrome 1 (ALGS1)

Alagille Syndrome 1(来自ICD-11)
别称:
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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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
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基础信息

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参考文献
MALACARDS
AD
Unknown
1-9/100000
41
417
149

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