Sting-associated vasculopathy, infantile-onset

Preferred Label : Sting-associated vasculopathy, infantile-onset;

Symbol : SAVI;

CISMeF acronym : SAVI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autoinflammatory-vasculopathy syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the stimulator of interferon response cGAMP interactor 1 gene (STING1, 612374.0001);

Laboratory abnormalities : Increased erythrocyte sedimentation rate; Increased C-reactive protein;

Prefixed ID : #615934;

Details

Origin ID

615934;

UMLS CUI

C4014722;

Automatic exact mappings (from CISMeF team)
- STING1 wt Allele [NCIt concept]
CISMeF manual mappings
- STING-associated vasculopathy with onset in infancy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- SAVI syndrome [MedDRA LLT]
- STING-Associated Vasculopathy, Infantile-Onset [NCIt concept]
- STING-associated vasculopathy with onset in infancy [ORDO Disease]
- STING-associated vasculopathy with onset in infancy [DO Concept]
- STING-associated vasculopathy with onset in infancy [MedDRA Preferred Term]
DO Cross reference
- STING-associated vasculopathy with onset in infancy [DO Concept]
Genes related to phenotype
- Stimulator of interferon response cgamp interactor 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Antinuclear antibody positivity [HPO term]
- Antiphospholipid antibody positivity [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutis marmorata [HPO term]
- Cytoplasmic antineutrophil antibody positivity [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Erythema [HPO term]
- Failure to thrive [HPO term]
- Follicular hyperplasia [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgG level [HPO term]
- Joint stiffness [HPO term]
- Leukopenia [HPO term]
- Lymphopenia [HPO term]
- Malar rash [HPO term]
- Myalgia [HPO term]
- Myositis [HPO term]
- Nail dystrophy [HPO term]
- Nailfold capillary tortuosity [HPO term]
- Nasal septum perforation [HPO term]
- Neonatal onset [HPO term]
- Paratracheal lymphadenopathy [HPO term]
- Periungual erythema [HPO term]
- Pulmonary fibrosis [HPO term]
- Pustular rash [HPO term]
- Pustule [HPO term]
- Raynaud phenomenon [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Rheumatoid factor positive [HPO term]
- Skeletal muscle atrophy [HPO term]
- Skin rash [HPO term]
- Sparse hair [HPO term]
- Tachypnea [HPO term]
- Telangiectasia [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- STING-associated vasculopathy with onset in infancy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SAVI syndrome [MedDRA LLT]
- STING-Associated Vasculopathy, Infantile-Onset [NCIt concept]
- STING-associated vasculopathy with onset in infancy [MedDRA Preferred Term]
- STING-associated vasculopathy with onset in infancy (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients