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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
非罕见病
Tricuspid Valve Insufficiency
Alias:
Tricuspid Regurgitation
Tricuspid Valve Regurgitation
Tricuspid Valve Annular Incompetency
Tr - [tricuspid Regurgitation]
Tricuspid Valve Incompetency
Tricuspid Incompetence
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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
三尖瓣关闭不全,也称为三尖瓣反流,与心源性休克和右束支传导阻滞有关。与三尖瓣关闭不全相关的基因是PTPN11(非受体酪氨酸磷酸酶11),其相关通路/超级通路包括信号转导和发育_Leptin信号通路通过JAK/STAT和MAPK级联反应。在该疾病的背景下提到了托伐普坦和托拉塞米。附属组织包括心脏和肝脏,相关表型是肌肉和正常。
Related ID:
MALACARDS:TRC022
MESH:D014262
ICD11:770887951
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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27
253
1
TRC022
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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