Structural Heart Defects and Renal Anomalies Syndrome (SHDRA)

Alias:
Shdra
Heart Defects, Structural, and Renal Anomalies Syndrome
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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
结构心脏缺陷和肾畸形综合征,也被称为SHDRAS。与结构心脏缺陷和肾畸形综合征相关的基因是TMEM260(跨膜蛋白260)。相关组织包括心脏和皮肤,相关表型为室间隔缺损和收缩期心脏杂音。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
3
2

Medical Symptom

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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

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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
Year
IF
No Data Found!
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