Lipomatosis, Multiple Symmetric, with or Without Axonal Peripheral Neuropathy (MSL)

Lipomatosis, Multiple Symmetric, with or Without Axonal Peripheral Neuropathy(来自ICD-11)
别称:
Lipomatosis, Multiple Symmetric, with or Without Peripheral Neuropathy
Lipomatosis, Familial Benign Cervical
Lipomatosis Familial Benign Cervical
Lipodystrophy Cephalothoracic Type
Lipodystrophy, Cephalothoracic
Multiple Symmetric Lipomatosis
Msl
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipomatosis, Multiple Symmetric, with or Without Axonal Peripheral Neuropathy, also known as lipomatosis, multiple symmetric, with or without peripheral neuropathy, is related to lipodystrophy, partial, acquired and myoclonic epilepsy associated with ragged-red fibers. An important gene associated with Lipomatosis, Multiple Symmetric, with or Without Axonal Peripheral Neuropathy is MFN2 (Mitofusin 2). Affiliated tissues include skin and adipocyte, and related phenotypes are peripheral neuropathy and lipoma
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
--
2
23
23

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