Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 (CMTX5)

X-连锁隐性腓骨肌萎缩症5型(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease X-Linked Recessive 5

Rosenberg-Chutorian Syndrome

Cmtx5

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5

Optic Atrophy, Polyneuropathy, and Deafness

X-Linked Charcot-Marie-Tooth Disease Type 5

Optic Atrophy Polyneuropathy Deafness

Cmt5x

Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5

Optic Atrophy with Polyneuropathy and Deafness

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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

X-连锁隐性遗传性Charcot-Marie-Tooth病5型，又称X连锁隐性遗传性Charcot-Marie-Tooth病5型，与Charcot-Marie-Tooth病和Charcot-Marie-Tooth病5型有关，症状包括步态共济失调。与X连锁隐性遗传性Charcot-Marie-Tooth病5型相关的重要基因是PRPS1（磷酸核糖焦磷酸合成酶1），其相关通路/超级通路包括代谢和核苷酸代谢。相关组织包括眼睛和视网膜，相关表型为肌肉无力和听力障碍。

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