Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 (CMTX1)

Alias:

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Cmtx1

Cmtx

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

X-Linked Hereditary Motor and Sensory Neuropathy

X-Linked Charcot-Marie-Tooth Disease Type 1

Cmt1x

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Hereditary Motor and Sensory Neuropathy, X-Linked

Hereditary Motor and Sensory Neuropathy X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Charcot-Marie-Tooth, X-Linked

Hmsn, X-Linked

Cmt2, Formerly

Hmsn X-Linked

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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-连锁显性Charcot-Marie-Tooth病1，也被称为X连锁显性Charcot-Marie-Tooth病1，与X连锁隐性Charcot-Marie-Tooth病2和X连锁隐性Charcot-Marie-Tooth病5有关，症状包括麻木、震颤和偏瘫。与X连锁显性Charcot-Marie-Tooth病1有关的重要基因是GJB1（间隙连接蛋白β1），其相关通路/超通路包括参与CMT神经病的细胞内转运蛋白和由EGR2和SOX10介导的施万细胞髓鞘化启动。在该疾病的背景下提到了免疫球蛋白和抗体。相关组织包括平滑肌和脊髓，相关表型为无反应性和感觉神经病。

Related ID：

MALACARDS：CHR640

OMIM：302800

MESH：D002607