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GTR Home > Conditions/Phenotypes > STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy

Synonyms
Sting-associated vasculopathy, infantile-onset
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

STING-associated vasculopathy with onset in infancy is an 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. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014). [from OMIM]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ERIS, MITA, MPYS, NET23, SAVI, STING, STING-beta, TMEM173, hMITA, hSTING, STING1
    Summary: stimulator of interferon response cGAMP interactor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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