STING-associated vasculopathy with onset in infancy

Term ID

DOID:0111457

Synonyms

• SAVI

Definition

An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. https://www.ncbi.nlm.nih.gov/pubmed/25029335

References

• GARD:12357
• MIM:615934
• ORDO:425120

Ontology

Human Disease   ( DOID:0111457 )