Pulmonary Atresia with Intact Ventricular Septum

Alias:
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary Valve Atresia with Intact Ventricular Septum
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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
肺动脉闭锁合并完整室间隔,也称为肺动脉闭锁-完整室间隔综合征,与三尖瓣关闭不全和动脉导管未闭有关。与肺动脉闭锁合并完整室间隔相关的基因之一是 TPM1(肌球蛋白 1)。相关组织包括心脏和肝脏,相关表型包括三尖瓣形态异常和母体糖尿病。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
1-9/100000
1
7
4

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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