Waardenburg Syndrome, Type 4b (WS4B)

Alias:
Waardenburg Syndrome Type 4b
Ws4b
Waardenburg Syndrome with Hirschsprung Disease Type 4b
Waardenburg Syndrome Type Ivb
Waardenburg Syndrome, Type 4b, with Hirschsprung Disease
Hirschsprung Disease with Pigmentary Anomaly
Waardenburg Syndrome, Type Ivb
Waardenburg Syndrome, Type 4a
Waardenburg-Shah Syndrome
Shah-Waardenburg Syndrome
Waardenburg Syndrome 4b
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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
瓦登伯格综合症4b型,又称瓦登伯格综合症4b型,与感觉神经性听力损失和瓦登伯格综合症4a型有关。与瓦登伯格综合症4b型有关的重要基因是EDN3(内皮素3),其相关通路/超级通路包括离子通道转运。附属组织包括皮肤和眼睛,相关表型包括感觉神经性听力损失和头发过早变白
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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6
37
8

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
Status
Phase
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
Year
IF
No Data Found!
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