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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 (LGMDD3)
Alias:
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Lgmd1g
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3
Muscular Dystrophy, Limb-Girdle, Type 1g
Limb-Girdle Muscular Dystrophy, Type 1g
Lgmdd3
Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3
Dystrophy, Muscular, Limb-Girdle, Type 1g
Muscular Dystrophy Limb-Girdle Type 1g
Limb-Girdle Muscular Dystrophy Type 1g
Limb-Girdle Muscular Dystrophy 1g
Hnrnpdl-Related Lgmd D3
Lgmd Type 1g
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
肌营养不良症,肢带型,常染色体显性3型,也被称为常染色体显性肢带型肌营养不良症1g型,与肌病,肌纤维蛋白病3型和肌营养不良症,肢带型,常染色体显性1型有关。与肌营养不良症,肢带型,常染色体显性3型相关的基因是HNRNPDL(异质核糖核蛋白D样),其相关通路/超通路包括急性病毒性心肌炎和13q12.12拷贝数变异。相关组织包括骨骼肌,相关表型包括白内障和肌病。
Related ID:
MALACARDS:MSC180
OMIM:609115
MESH:D049288
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
青少年
<1/1000000
11
49
4
MSC180
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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