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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
Episodic Ataxia, Type 3 (EA3)
Alias:
Episodic Ataxia Type 3
Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome
Ataxia, Episodic, with Vertigo and Tinnitus
Ea3
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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
周期性共济失调,类型3,也称为周期性共济失调类型3,与脊髓小脑共济失调27a和周期性共济失调,类型6有关。与周期性共济失调,类型3有关的重要基因是EA3(周期性共济失调,类型3),其相关通路/超级通路包括前体蛋白介导的信号通路和Fc-γR通路。相关表型为眩晕和周期性共济失调。
Related ID:
MALACARDS:EPS014
OMIM:606554
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
<1/1000000
6
67
2
EPS014
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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