Deafness, Autosomal Recessive 1a (DFNB1A)

Alias:

Deafness, Digenic, Gjb2/gjb3

Dfnb1a

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/gjb6

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Autosomal Recessive Nonsyndromic Hearing Loss 1a

Deafness Neurosensory Autosomal Recessive 1

Deafness, Autosomal Recessive, Type 1a

Deafness, Autosomal Recessive, 1a

Autosomal Recessive Deafness 1a

Deafness, Digenic Gjb2/gjb6

Deafness Digenic Gjb2/gjb3

Deafness Digenic Gjb2/gjb6

Nsrd1

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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，常染色体隐性1a型，又称双基因聋， gjb2/gjb3型，与先天性聋，常染色体隐性1b型和先天性聋，常染色体显性3a型有关。与先天性聋，常染色体隐性1a型有关的重要基因是GJB2（间隙连接蛋白β2），其相关通路/超级通路包括嗅觉信号通路和声音感觉处理通路。相关组织包括大脑和皮肤，相关表型为异常前庭功能和感音神经性听力障碍。

Related ID：

MALACARDS：DFN097

OMIM：220290

MESH：D006319