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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
Welander Distal Myopathy (WDM)
Alias:
Wdm
Distal Myopathy, Welander Type
Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant
Late-Onset Autosomal Dominant Distal Muscular Dystrophy
Myopathy, Distal, Welander
Myopathy, Distal, Swedish
Swedish Distal Myopathy
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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
威尔兰德远端肌病,也称为 WDM,与肌病和非科卡肌病有关,症状包括肌肉疼痛。与威尔兰德远端肌病有关的重要基因是 TIA1(TIA1 细胞毒性颗粒相关 RNA 结合蛋白),其相关通路/超通路包括翻译控制。附属组织包括骨骼肌,相关表型为肌病和 EMG:肌病异常。
Related ID:
MALACARDS:WLN001
OMIM:604454
MESH:D049310
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
>1/1000
3
35
14
WLN001
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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