Dystonia 11, Myoclonic (DYT11)

Dystonia 11, Myoclonic(来自ICD-11)
别称:
Myoclonic Dystonia
Myoclonus-Dystonia Syndrome
Myoclonic Dystonia 11
Alcohol-Responsive Dystonia
Dyt11
Hereditary Essential Myoclonus
Myoclonus, Hereditary Essential
Dystonia, Alcohol-Responsive
Dystonia, Myoclonic, Type 11
Dystonia-11, Myoclonic
Dystonia, Myoclonic
Myoclonus-Dystonia
Dystonia 11
Dystonia-11
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dystonia 11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and sgce myoclonus-dystonia, and has symptoms including torticollis and tremor. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon), and among its related pathways/superpathways is Alpha-synuclein signaling. The drugs Zonisamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus and brain, and related phenotypes are myoclonus and dystonia
查看原文 参与反馈
相关ID:

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
AD
Child
1-9/1000000
30
255
64

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