Charcot-Marie-Tooth Disease, Axonal, Type 2e (CMT2E)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Type 2

Cmt2e

Cmt2s

Cmt2y

Hereditary Motor and Sensory Neuropathy Type 2

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Neuropathy Type 2e

Charcot-Marie-Tooth Disease, Type 2y

Charcot-Marie-Tooth Disease Type 2s

Cmt2 Due to Vcp Mutation

Cmt2

Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Hereditary Motor and Sensory Neuropathy Okinawa Type

Hereditary Motor and Sensory-Neuropathy Type Ii

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Neuropathy, Type 2e

Charcot-Marie-Tooth Disease, Axonal, 2e

Charcot-Marie-Tooth Disease, Axonal, 2s

Charcot-Marie-Tooth Disease, Axonal, 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Disease, Type 2

Favorite

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，轴突型2e，也称为Charcot-Marie-Tooth病轴突型2s，与Charcot-Marie-Tooth病轴突型2t和Charcot-Marie-Tooth病轴突型2u有关。Charcot-Marie-Tooth病，轴突型2e的一个重要基因是IGHMBP2（免疫球蛋白μDNA结合蛋白2），其相关通路/超级通路包括tRNA氨基酰化和参与CMT神经病的细胞内运输蛋白质。相关组织包括心脏和舌，相关表型为步态障碍和上肢肌肉无力。

Related ID：

MALACARDS：CHR654

OMIM：607684

MESH：D002607

ICD11：403896648