Deafness, Autosomal Dominant 2a (DFNA2A)

Alias:
Dfna2a
Autosomal Dominant Nonsyndromic Deafness 2a
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a
Autosomal Dominant Nonsyndromic Hearing Loss 2a
Deafness, Autosomal Dominant, Type 2a
Deafness, Autosomal Dominant, 2a
Autosomal Dominant Deafness 2a
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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
先天性聋,常染色体显性2a,也被称为dfna2a,与dfna2非综合征性听力损失和感觉神经性听力损失有关。与先天性聋,常染色体显性2a有关的重要基因是KCNQ4(钾电压门控通道家族Q成员4),其相关通路/超级通路包括多巴胺-DARPP32反馈到cAMP通路和声音感觉处理通路。相关组织包括大脑,相关表型为神经系统和听觉/前庭/耳。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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10
68
23

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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