Clcn2-Related Leukoencephalopathy (LKPAT)

Clcn2-Related Leukoencephalopathy(来自ICD-11)
别称:
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema
Leukoencephalopathy with Ataxia
Leukoencephalopathy with White Matter Edema
Lkpat
Cc2l
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Clcn2-Related Leukoencephalopathy, also known as leukoencephalopathy with mild cerebellar ataxia and white matter edema, is related to leukoencephalopathy with ataxia and tremor, and has symptoms including headache and gait ataxia. An important gene associated with Clcn2-Related Leukoencephalopathy is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include brain and testis.
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
AR
All ages
<1/1000000
1
10
35

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