Deafness, Autosomal Dominant 70 (DFNA70)

Alias:
Dfna70
Autosomal Dominant Nonsyndromic Deafness 70
Autosomal Dominant Nonsyndromic Hearing Loss 70
Deafness, Autosomal Dominant, 70
Autosomal Dominant Deafness 70
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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70型,也被称为dfna70,与挛缩、翼状胬肉和脊柱-掌跖-踝关节融合综合征1a以及常染色体显性非综合征性聋有关。与先天性聋,常染色体显性70型相关的基因是MCM2(微小染色体维持复合体成分2)。相关组织包括大脑,相关表型为进行性感觉神经性听力障碍和异常前庭功能。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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7
23
1

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
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IF
No Data Found!
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