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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Waardenburg Syndrome, Type 4a (WS4A)
Alias:
Waardenburg Syndrome Type 4a
Waardenburg-Shah Syndrome
Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4
Ws4a
Ws4
Waardenburg Syndrome with Hirschsprung Disease Type 4a
Waardenburg-Hirschsprung Syndrome
Waardenburg Syndrome Type Iva
Waardenburg Syndrome with Hirschsprung Disease, Type 4a
Hirschsprung Disease with Pigmentary Anomaly
Waardenburg Syndrome, Type Iva
Waardenburg Syndrome, Type 4
Waardenburg Syndrome 4a
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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4a型,又称瓦登伯格综合症4a型,与周围脱髓鞘性神经病、中枢脱髓鞘、瓦登伯格综合症和希尔斯普朗病以及瓦登伯格综合症4c型有关。与瓦登伯格综合症4a型有关的重要基因是EDNRB(内皮素受体B型),其相关通路/超级通路包括酪氨酸激酶/适配子和神经嵴分化。附属组织包括皮肤和眼睛,相关表型包括便秘和听力障碍。
Related ID:
MALACARDS:WRD020
OMIM:277580
MESH:D014849
ICD11:1420151003
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
<1/1000000
27
547
27
WRD020
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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