Vacterl Association with Hydrocephalus (VACTERL-H)

Alias:
Vacterl-H
Vaterl Association with Hydrocephalus
Vacterl with Hydrocephalus
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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
VACTERL Association with Hydrocephalus(VACTERL-H)也被称为VACTERL关联性脑积水,与VACTERL关联性、X连锁、伴有或不伴有脑积水以及VACTERL关联性脑积水、X连锁有关。与VACTERL Association with Hydrocephalus相关的基因是PTEN(磷酸酶和张力蛋白同源物)。相关组织包括心脏和肾脏,相关表型为脑积水和呼吸功能不全。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
39
12

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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