STING-associated vasculopathy with onset in infancy
Synonyms: SAVI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | STING-associated vasculopathy with onset in infancy | SAVI |
| fr | Vasculopathie de l'enfant associée à STING | = en |
| de | STING-assoziierte Vaskulopathie mit Beginn in der Kindheit | = en |
| es | Vasculopatía con inicio en el lactante asociada a STING | = en |
| it | Vasculopatia associata a STING ad esordio infantile | = en |
| nl | STING-geassocieerde vasculopathie met aanvang in de zuigelingentijd | = en |
| pt | Vasculopatia STING-associada com início na infância | = en |
| pl | Waskulopatia zależna od STING o początku w wieku niemowlęcym | = en |
| cs | STING-asociovaná vaskulopatie s nástupem v dětství | = en |
| uk | STING-асоційована васкулопатія з початком у дитячому віці | = en |
| zh | STING相关的婴儿期血管病 | = en |
| tr | Süt çocuğu başlangıçlı STING-ilişkili vaskülopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615934 | E | validated | |
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A44.Y | NTBT | attributed | validated |
| MONDO | 0014405 | E | validated | |
| UMLS | C4014722 | E | validated | |
| GARD | 12357 | E | validated | |
| MedDRA | 10088833 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:156146Predominantly small-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:233655Rare genetic vascular disease
rare genetic diseases - ORPHA:280369Rare pediatric vasculitis
rare systemic or rheumatologic diseases of childhood - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STING1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:27962 | ENSG00000184584 | 612374 | 5q31.2 | stimulator of interferon response cGAMP interactor 1 | 25029335[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25401470[PMID]_25029335[PMID] |
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 25401470[PMID]_25029335[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/425120
- This record as JSON: /data/d/425120.json