Sting-Associated Vasculopathy with Onset in Infancy (SAVI)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
21
284
11

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
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