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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, Duchenne Type (DMD)
Alias:
Duchenne Muscular Dystrophy
Dmd
Muscular Dystrophy, Duchenne
Severe Dystrophinopathy, Duchenne Type
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Dystrophy, Muscular, Duchenne Type
Benign Duchenne Muscular Dystrophy
Duchenne Motor Neuron Disease
Muscular Dystrophy Duchenne
Duchenne-Griesinger Disease
Duchenne Type Dystrophy
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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,杜氏型,也被称为杜氏肌营养不良症,与肌营养不良症,贝克型和面肩肱型肌营养不良症1有关,症状包括鸭步和虚弱。与肌营养不良症,杜氏型有关的重要基因是DMD(Dystrophin),其相关通路/超级通路包括细胞分化-扩展索引和miRNA在败血症免疫反应中的作用。在该疾病的背景下提到了药物赖诺普利和卡维地洛。附属组织包括脂肪、脐带和骨骼肌,相关表型为脊柱侧凸和呼吸功能不全。
Related ID:
MALACARDS:MSC157
OMIM:310200
MESH:D020388
ICD11:1479561744
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
孩童期
1-5/10000
42
391
612
MSC157
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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