Details of Disease | DrugMAP

General Information of Disease (ID: DISP26TZ)

Disease Name	STING-associated vasculopathy with onset in infancy
Synonyms	STING-associated vasculopathy, infantile-onset; SAVI
Definition	STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.
Disease Hierarchy	DIS184KT: Skin inflammation DISKP5TO: Type 1 interferonopathy of childhood DISVS67S: Vascular disease DIS8I9FS: Hereditary disorder of connective tissue DISP26TZ: STING-associated vasculopathy with onset in infancy
Disease Identifiers	MONDO ID MONDO_0014405 UMLS CUI C4014722 OMIM ID 615934 MedGen ID 863159 Orphanet ID 425120 SNOMED CT ID 711164003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
STING1	TTT402Y	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STING1	OTDAP4G0	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.