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STING-associated vasculopathy with onset in infancy

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease.
Mondo Term and Equivalent IDs
MONDO:0014405:  STING-associated vasculopathy with onset in infancy
DOID:0111457: 
GARD:0012357: 
Orphanet:425120: 
SCTID:711164003: 
UMLS:C4014722: 
UMLS:C4040879: