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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
Ventricular Tachycardia, Familial
Alias:
Familial Ventricular Tachycardia
Ventricular Tachycardia
Ventricular Tachycardia, Familial Polymorphic
Ventricular Tachycardia, Idiopathic
Paroxysmal Ventricular Tachycardia
Vt - [ventricular Tachycardia]
Ventricular Tachycardia Nos
Tachycardia, Ventricular
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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
室性心动过速,家族性,也称为家族性室性心动过速,与室性心动过速,儿茶酚胺多形性,2型和室性心动过速,儿茶酚胺多形性,3型有关。与室性心动过速,家族性有关的重要基因是GNAI2(G蛋白亚基αI2),其相关通路/超级通路包括β肾上腺素能信号通路和心脏传导。在该疾病的背景下,已提到的药物包括美托洛尔和普罗帕酮。附属组织包括心脏和甲状腺,相关表型为阵发性室性心动过速和猝死。
Related ID:
MALACARDS:VNT032
OMIM:192605
ICD11:1171837620
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
20
291
3
VNT032
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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