Muscular Dystrophy, Congenital, Lmna-Related (MDCL)

Muscular Dystrophy, Congenital, Lmna-Related(来自ICD-11)
别称:
Congenital Muscular Dystrophy
Congenital Muscular Dystrophy Due to Lmna Mutation
Lmna-Related Congenital Muscular Dystrophy
L-Cmd
Mdcl
Cmd
Mdc
Dystrophy, Muscular, Congenital, Lmna-Related
Congenital Muscular Dystrophy Lmna-Related
Muscular Dystrophy Congenital Lmna-Related
Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy
Dystrophy, Muscular, Congenital
Muscular Dystrophy, Congenital
Hereditary Muscular Dystrophy
Lmna-Related Cmd
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Congenital, Lmna-Related, also known as congenital muscular dystrophy, is related to ullrich congenital muscular dystrophy 1 and congenital muscular dystrophy-dystroglycanopathy a14. An important gene associated with Muscular Dystrophy, Congenital, Lmna-Related is LMNA (Lamin A/C), and among its related pathways/superpathways are Extracellular matrix organization and O-linked glycosylation of mucins. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are poor head control and axial muscle weakness
查看原文 参与反馈
相关ID:
MESH:D009136
ICD11:396687076

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
AD
Newborn
1-9/1000000
97
810
11

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