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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
Alias:
Muscular Dystrophies
Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy
Progressive Musclular Dystrophy
Pseudohypertrophic Paralysis
Gower's Muscular Dystrophy
Pseudohypertrophic Atrophy
Pseudomuscular Hypertrophy
Dystrophy, Muscular
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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,也称为肌营养不良症,与肌营养不良症、先天性、lmna相关和肢带肌营养不良症有关,症状包括背痛、肌肉痉挛和肌阵挛。与肌营养不良症有关的重要基因是DMD(Dystrophin),其相关通路/超级通路包括DREAM Repression和Dynorphin Expression和急性病毒性心肌炎。在该疾病的背景下提到了Carvedilol和Ramipril这两种药物。附属组织包括骨骼肌和脊髓,相关表型为肌肉和稳态/新陈代谢。
Related ID:
MALACARDS:MSC005
MESH:D009136
ICD11:1464662404
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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181
1758
40
MSC005
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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