Deafness, X-Linked 5, with Peripheral Neuropathy (DFNX5)

Alias:

Deafness, X-Linked 5

Dfnx5

Aunx1

X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1

Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy

X-Linked Hsan with Deafness

X-Linked Deafness 5

X-Linked Hereditary Sensory and Autonomic Neuropathy with Hearing Loss

X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness

X-Linked Auditory Neuropathy 1 with Peripheral Sensory Neuropathy

Deafness, X-Linked, 5, with Peripheral Neuropathy

X-Linked Hsan with Hearing Loss

Deafness, X-Linked, Type 5

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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

先天性非综合征性聋，X连锁5型，也称为先天性非综合征性聋，X连锁5型，与周围神经病有关，并且有症状包括耳鸣。与先天性非综合征性聋，X连锁5型，周围神经病有关的重要基因是AIFM1（凋亡诱导因子线粒体相关1），其相关通路/超级通路包括磷酸戊糖途径和PRPP生物合成。附属组织包括骨骼肌和周围神经，相关表型包括听力障碍和耳蜗神经发育不良。

Related ID：

MALACARDS：DFN380

OMIM：300614

MESH：D006319