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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 Recessive 8 (DFNB8)
Alias:
Neurosensory Nonsyndromic Recessive Deafness 8
Dfnb10
Dfnb8
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8
Autosomal Recessive Nonsyndromic Deafness 8
Deafness, Autosomal Recessive 10
Nsrd8
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8
Childhood-Onset Neurosensory Autosomal Recessive Deafness 8
Childhood-Onset Neurosensory Deafness Autosomal Recessive 8
Autosomal Recessive Nonsyndromic Hearing Loss 8
Deafness Neurosensory Autosomal Recessive 8
Deafness, Autosomal Recessive, Type 8/10
Deafness, Autosomal Recessive 8/10
Deafness Autosomal Recessive 8/10
Deafness, Autosomal Recessive, 8
Autosomal Recessive Deafness 10
Deafness Autosomal Recessive 10
Autosomal Recessive Deafness 8
Nrsd8
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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
先天性非综合征性耳聋8型,又称神经感觉性非综合征性隐性耳聋8型,与甘油激酶缺乏症和非综合征性遗传性耳聋有关。与先天性非综合征性耳聋8型相关的重要基因是TMPRSS3(跨膜丝氨酸蛋白酶3),其相关通路/超级通路包括声音感觉处理。相关组织包括大脑,相关表型包括感觉神经性听力障碍和神经系统。
Related ID:
MALACARDS:DFN352
OMIM:601072
MESH:D006319
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
13
110
37
DFN352
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
MGI
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