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。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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13
110
37

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
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Mutations
No data available

Related Drugs

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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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No Data Found!
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