Rare Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

罕见的常染色体隐性非综合征性感觉神经性耳聋类型Dfnb(来自翻译大模型)

别称:

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

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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

罕见常染色体隐性非综合征性感觉神经性耳聋型Dfnb，也称为常染色体隐性非综合征性感觉神经性听力损失型Dfnb，与聋哑性6和聋哑性2有关。与罕见常染色体隐性非综合征性感觉神经性耳聋型Dfnb有关的重要基因是ADCY1（腺苷酸环化酶1），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。相关表型为神经系统和听觉/前庭/耳。

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