Deafness, Autosomal Dominant 22 (DFNA22)

常染色体显性耳聋22型(来自ICD-11)

别称:

Dfna22

Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Deafness, Autosomal Dominant 22, with Hypertrophic Cardiomyopathy

Autosomal Dominant Nonsyndromic Deafness 22

Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome

Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Autosomal Dominant Nonsyndromic Hearing Loss 22

Deafness, Autosomal Dominant, Type 22

Deafness, Autosomal Dominant, 22

Autosomal Dominant Deafness 22

Dfnhcm

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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22型，也称为dfna22，与先天性聋，常染色体隐性3型和先天性聋，常染色体显性4a型有关。与先天性聋，常染色体显性22型有关的重要基因是MYO6（肌球蛋白VI），其相关通路/超级通路包括整合素通路和嗅觉信号通路。相关组织包括大脑，相关表型为感音神经性听力障碍和进行性感音神经性听力障碍。

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