Charcot-Marie-Tooth Disease, Axonal, Type 2u (CMT2U)

Charcot-Marie-Tooth Disease, Axonal, Type 2u(来自ICD-11)
别称:
Charcot-Marie-Tooth Disease Axonal Type 2u
Cmt2u
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u
Charcot-Marie-Tooth Neuropathy, Type 2u
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
Charcot-Marie-Tooth Disease, Axonal, 2u
Charcot-Marie-Tooth Neuropathy Type 2u
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Axonal, Type 2u, also known as charcot-marie-tooth disease axonal type 2u, is related to tooth disease and peripheral nervous system disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2u is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include lung and liver, and related phenotypes are gait disturbance and steppage gait
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基础信息

遗传方式
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参考文献
MALACARDS
AD
Adult
<1/1000000
10
48
2

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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