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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
Deafness, Autosomal Dominant 9 (DFNA9)
Alias:
Dfna9
Autosomal Dominant Nonsyndromic Deafness 9
Autosomal Dominant Nonsyndromic Hearing Loss 9
Deafness, Autosomal Dominant, Type 9
Deafness, Autosomal Dominant, 9
Autosomal Dominant Deafness 9
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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
听觉障碍,常染色体显性9型,也被称为dfna9,与梅尼埃病和前庭疾病有关,症状包括耳鸣和眩晕。与听觉障碍,常染色体显性9型有关的重要基因是COCH(Cochlin),其相关通路/超通路包括声音感觉处理。相关组织包括骨,相关表型为眩晕和耳鸣。
Related ID:
MALACARDS:DFN136
OMIM:601369
MESH:D006319
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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20
254
16
DFN136
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
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MGI
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No Data Found!
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