Charcot-Marie-Tooth Disease and Deafness (CMT1E)

腓骨肌萎缩症和耳聋(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 1e

Cmt1e

Charcot-Marie-Tooth Disease Type 1

Hereditary Motor and Sensory Neuropathy Type 1

Charcot-Marie-Tooth Disease, Type I

Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

Charcot-Marie-Tooth Disease Demyelinating Type 1e

Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

Charcot-Marie-Tooth Disease-Deafness Syndrome

Charcot-Marie-Tooth Neuropathy Type 1

Charcot-Marie-Tooth Disease, Type 1e

Cmt1

Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant

Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness

Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant

Charcot-Marie-Tooth Disease, Demyelinating, 1e

Hereditary Motor and Sensory Neuropathy Type I

Charcot-Marie-Tooth Neuropathy Type 1e

Charcot-Marie-Tooth Disease-Deafness

Charcot-Marie-Tooth Disease, Type Ie

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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

Charcot-Marie-Tooth病和耳聋，也称为Charcot-Marie-Tooth病1e，与Charcot-Marie-Tooth病1g和Roussy-Levy遗传不动性肌病有关。与Charcot-Marie-Tooth病和耳聋有关的重要基因是PMP22（周围髓蛋白22），其相关通路/超级通路包括神经嵴分化和参与CMT神经病的细胞内运输蛋白质。相关组织包括脊髓和大脑，相关表型包括感觉神经性听力障碍和神经传导速度降低。

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