Charcot-Marie-Tooth Disease Type 2a2a

Charcot-Marie-Tooth Disease Type 2a2a(来自ICD-11)
别称:
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
Hereditary Motor and Sensory Neuropathy Iia2
Charcot-Marie-Tooth Neuropathy Type 2a2
Charcot-Marie-Tooth Disease, Type 2a2a
Charcot-Marie-Tooth Neuronal Type 2a2
Hmsn Iia2
Cmt2a2a
Hmsn2a2
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease Type 2a2a, also known as autosomal dominant axonal charcot-marie-tooth disease type 2a2, is related to hereditary sensory neuropathy and charcot-marie-tooth disease, demyelinating, type 1b. An important gene associated with Charcot-Marie-Tooth Disease Type 2a2a is MFN2 (Mitofusin 2), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include brain, and related phenotypes are nervous system and behavior/neurological
查看原文 参与反馈

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
--
Unknown
--
11
65
91

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top