Atypical Coarctation of Aorta

Alias:
Middle Aortic Syndrome
Coarctation of the Abdominal Aorta
Mid-Aortic Dysplastic Syndrome
Mid-Aortic Syndrome
Takayasu Arteritis
Midaortic 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
非典型主动脉缩窄,又称中动脉综合征,与心脏室间隔缺损和阿拉吉尔综合征有关。与非典型主动脉缩窄相关的基因是GATA6(GATA结合蛋白6),其相关通路/超级通路包括RAF/MAP激酶级联反应。在该疾病的背景下提到了药物泼尼松和托法替尼。附属组织包括心脏和T细胞,相关表型为shRNA丰度增加(Z分数>2)和正常。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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孩童期
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4
65
1

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

Name
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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