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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
Myostatin-Related Muscle Hypertrophy (MSLHP)
Alias:
Muscle Hypertrophy Syndrome
Mslhp
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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
肌营养不良相关肌肥厚,又称肌肥厚综合征,与肌肥厚和青少年多发性息肉/遗传性出血性毛细血管扩张症综合征有关。与肌营养不良相关肌肥厚有关的重要基因是MSTN(肌营养不良),其相关通路/超通路包括BMP信号通路。附属组织包括骨骼肌,相关表型为肾/尿系统。
Related ID:
MALACARDS:MYS010
MESH:C536106
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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11
88
1
MYS010
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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