Sting-Associated Vasculopathy, Infantile-Onset (SAVI)

Alias:
Autoinflammatory-Vasculopathy Syndrome
Savi
Sting-Associated Vasculopathy with Onset in Infancy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sting-Associated Vasculopathy, Infantile-Onset, also known as autoinflammatory-vasculopathy syndrome, is related to sting-associated vasculopathy with onset in infancy and singleton-merten dysplasia, and has symptoms including fever and onychomadesis. An important gene associated with Sting-Associated Vasculopathy, Infantile-Onset is STING1 (Stimulator Of Interferon Response CGAMP Interactor 1). Affiliated tissues include lung and skin, and related phenotypes are failure to thrive and lymphopenia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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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
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IF
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