MCID: STN011
MIFTS: 15

Sting-Associated Vasculopathy with Onset in Infancy

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Sting-Associated Vasculopathy with Onset in Infancy

MalaCards integrated aliases for Sting-Associated Vasculopathy with Onset in Infancy:

Name: Sting-Associated Vasculopathy with Onset in Infancy 49 24
Savi 49 24
Sting-Associated Vasculopathy, Infantile-Onset 69
Sting-Associated Vasculopathy, Infantile Onset 24

Classifications:



External Ids:

UMLS 69 C4014722

Summaries for Sting-Associated Vasculopathy with Onset in Infancy

Genetics Home Reference : 24 STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair. Excessive inflammation damages the body's own cells and tissues. Disorders such as SAVI that result from abnormally increased inflammation are known as autoinflammatory diseases.

MalaCards based summary : Sting-Associated Vasculopathy with Onset in Infancy, also known as savi, is related to sting-associated vasculopathy, infantile-onset and singleton-merten syndrome, and has symptoms including fever and onychomadesis. An important gene associated with Sting-Associated Vasculopathy with Onset in Infancy is TMEM173 (Transmembrane Protein 173). Affiliated tissues include lung and skin.

Related Diseases for Sting-Associated Vasculopathy with Onset in Infancy

Diseases related to Sting-Associated Vasculopathy with Onset in Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sting-associated vasculopathy, infantile-onset 12.2
2 singleton-merten syndrome 11.3
3 interstitial lung disease 10.0
4 lung disease 10.0

Symptoms & Phenotypes for Sting-Associated Vasculopathy with Onset in Infancy

UMLS symptoms related to Sting-Associated Vasculopathy with Onset in Infancy:


fever, onychomadesis

Drugs & Therapeutics for Sting-Associated Vasculopathy with Onset in Infancy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT00059748

Search NIH Clinical Center for Sting-Associated Vasculopathy with Onset in Infancy

Genetic Tests for Sting-Associated Vasculopathy with Onset in Infancy

Anatomical Context for Sting-Associated Vasculopathy with Onset in Infancy

MalaCards organs/tissues related to Sting-Associated Vasculopathy with Onset in Infancy:

38
Lung, Skin

Publications for Sting-Associated Vasculopathy with Onset in Infancy

Articles related to Sting-Associated Vasculopathy with Onset in Infancy:

# Title Authors Year
1
Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy. ( 27585386 )
2016

Variations for Sting-Associated Vasculopathy with Onset in Infancy

ClinVar genetic disease variations for Sting-Associated Vasculopathy with Onset in Infancy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM173 NM_198282.3(TMEM173): c.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs587777609 GRCh38 Chromosome 5, 139480849: 139480849
2 TMEM173 NM_198282.3(TMEM173): c.463G> A (p.Val155Met) single nucleotide variant Pathogenic rs587777610 GRCh38 Chromosome 5, 139480847: 139480847
3 TMEM173 NM_198282.3(TMEM173): c.439G> C (p.Val147Leu) single nucleotide variant Pathogenic rs587777611 GRCh38 Chromosome 5, 139480871: 139480871

Expression for Sting-Associated Vasculopathy with Onset in Infancy

Search GEO for disease gene expression data for Sting-Associated Vasculopathy with Onset in Infancy.

Pathways for Sting-Associated Vasculopathy with Onset in Infancy

GO Terms for Sting-Associated Vasculopathy with Onset in Infancy

Sources for Sting-Associated Vasculopathy with Onset in Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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