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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 Recessive 25 (LGMDR25)
Alias:
Lgmd2x
Cardiac Arrhythmia with Increased Serum Creatine Kinase
Muscular Dystrophy, Limb-Girdle, Type 2x
Limb-Girdle Muscular Dystrophy 2x
Lgmdr25
Carick
Autosomal Recessive Limb-Girdle Muscular Dystrophy-Cardiac Arrhythmia Syndrome
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Bves-Related Limb-Girdle Muscular Dystrophy
Dystrophy, Muscular, Limb-Girdle, Type X
Lgmd R25 Bves-Related
Bves-Related Lgmd
Lgmd Type 2x
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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,常染色体隐性25型,又称lgmd2x,与常染色体隐性肢带型肌营养不良2x和肢带型肌营养不良有关。与肌营养不良症,肢带型,常染色体隐性25型相关的基因是BVES(心外膜血管物质)。相关组织包括骨骼肌,相关表型为行走困难和晕厥。
Related ID:
MALACARDS:MSC191
OMIM:616812
MESH:D049288
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
成年期
<1/1000000
1
5
3
MSC191
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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