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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
Hypertrophic Cardiomyopathy
Alias:
Hypertrophic Obstructive Cardiomyopathy
Cardiomyopathy, Hypertrophic
Obstructive Idiopathic Hypertrophic Cardiomyopathy
Hypertrophic Obstructive Subaortic Stenosis
Idiopathic Hypertrophic Subaortic Stenosis
Cardiomyopathy Hypertrophic Obstructive
Cardiomyopathy, Hypertrophic, Familial
Idiopathic Hypertrophic Cardiomyopathy
Idiopathic Myocardial Hypertrophy
Muscular Subaortic Stenosis
Obstructive Cardiomyopathy
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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
肥厚型心肌病,也称为梗阻性肥厚型心肌病,与心肌病、家族性肥厚型心肌病和扩张型心肌病有关。与肥厚型心肌病有关的重要基因是MYH7(肌球蛋白重链7),其相关通路/超级通路包括心脏传导和β-2肾上腺素依赖性CFTR表达。在该疾病的背景下提到了Esmolol和Ethanol药物。附属组织包括心脏和骨骼肌,相关表型为肌肉和生长/大小/身体部位
Related ID:
MALACARDS:HYP061
MESH:D002312
ICD11:1830681485
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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270
2186
967
HYP061
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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PMID
Journal
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IF
No Data Found!
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