Alagille Syndrome 2 (ALGS2)

Alias:
Alagille Syndrome Due to a Notch2 Point Mutation
Algs2
Syndromic Bile Duct Paucity Due to a Notch2 Point Mutation
Alagille-Watson Syndrome Due to a Notch2 Point Mutation
Arteriohepatic Dysplasia Due to a Notch2 Point Mutation
Cholestasis with Peripheral Pulmonary Stenosis
Alagille Syndrome, Type 2
Alagille-Watson Syndrome
Algs
Aws
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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2,也被称为由于NOTCH2点突变导致的阿拉吉尔综合症,与阿拉吉尔综合症1和沃森综合症有关。与阿拉吉尔综合症2有关的重要基因是NOTCH2(Notch受体2)。相关组织包括肝脏和眼睛,相关表型包括高血压和蛋白尿。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
24
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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