Sting-Associated Vasculopathy with Onset in Infancy (SAVI)

Sting-Associated Vasculopathy with Onset in Infancy(来自ICD-11)
别称:
Savi
Sting-Associated Vasculopathy, Infantile-Onset
Sting-Associated Vasculopathy, Infantile Onset
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sting-Associated Vasculopathy with Onset in Infancy, also known as savi, is related to singleton-merten dysplasia and covid-19, and has symptoms including fever and onychomadesis. An important gene associated with Sting-Associated Vasculopathy with Onset in Infancy is STING1 (Stimulator Of Interferon Response CGAMP Interactor 1), and among its related pathways/superpathways are Infectious disease and Innate Immune System. Affiliated tissues include skin and lung, and related phenotypes are homeostasis/metabolism and growth/size/body region
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基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AD
Infant
<1/1000000
21
281
11

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靶点药物

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MGI
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