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IEMbase 0777: TMEM173-related STING superactivity

Scope

Field Value
IEMbase ID 777
Nosology 16.3.09.01
Nosology code IEM0034
Gene TMEM173
External IDs OMIM:615934; ORPHA:481662
Generated mapping MAPPED; STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml
Candidate DisMech targets STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml
Review date 2026-07-08

IEMbase phenotype signal

IEMbase labels this autosomal dominant record as TMEM173-related STING superactivity, with alternate names SAVI and dominant familial chilblain lupus type. The source signal includes recurrent infections, fever, interstitial lung disease, acral violaceous plaques and nodules, chilblain lesions, ulcerative lesions with infarcts and gangrene, nail dystrophy or loss, lymphadenopathy, arthralgia, nasal septum perforation, malar flush, arterial and pulmonary hypertension, B lymphopenia, elevated CRP/ESR, elevated IgG, autoantibodies, and a strong interferon-stimulated gene signature.

DisMech phenotype coverage

STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml is the correct local target. It models activating STING1/TMEM173 variants, constitutive cGAS/STING and type I interferon signaling, endothelial activation and small-vessel vasculopathy, progressive interstitial lung disease/fibrosis, and JAK inhibitor therapy. Local phenotypes include interstitial lung disease, skin vasculopathy, failure to thrive, polyarticular arthritis, livedo reticularis, and nasal septum perforation.

Concordance and completeness

Judgement: exact disease-level coverage; generated mapping should be accepted.

The disease identity, gene, inheritance, interferonopathy mechanism, ILD, skin vasculopathy, arthritis/arthralgia, and nasal involvement are concordant. DisMech is strong for the central STING mechanism and therapeutic context. IEMbase is more granular for inflammatory and immune-laboratory features and for cutaneous complications: CRP/ESR, IgG, autoantibodies, B lymphopenia, recurrent infections, lymphadenopathy, nail dystrophy/loss, acral plaques, and ulceration/gangrene are not all separately represented in the local phenotype set.

Curation actions

  • Keep STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml as exact coverage for IEMbase 0777.
  • Consider adding explicit recurrent infections, B lymphopenia, inflammatory marker elevation, lymphadenopathy, nail dystrophy/loss, and ulcerative gangrenous vasculopathy if supported by existing evidence.
  • Preserve TMEM173/STING1 naming equivalence: IEMbase uses TMEM173, while the local HGNC label is STING1.