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 53 25 37
Savi 53 25
Sting-Associated Vasculopathy, Infantile-Onset 73
Sting-Associated Vasculopathy, Infantile Onset 25

Classifications:



External Ids:

KEGG 37 H01746
UMLS 73 C4014722

Summaries for Sting-Associated Vasculopathy with Onset in Infancy

Genetics Home Reference : 25 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. Among its related pathways/superpathways are NOD-like receptor signaling pathway and RIG-I-like receptor signaling pathway. 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:

41
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

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

Pathways related to Sting-Associated Vasculopathy with Onset in Infancy according to KEGG:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621
2 RIG-I-like receptor signaling pathway hsa04622
3 Cytosolic DNA-sensing pathway hsa04623

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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