MCID: STN012
MIFTS: 25

Sting-Associated Vasculopathy, Infantile-Onset

Categories: Genetic diseases, Bone diseases, Skin diseases, Blood diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Sting-Associated Vasculopathy, Infantile-Onset

MalaCards integrated aliases for Sting-Associated Vasculopathy, Infantile-Onset:

Name: Sting-Associated Vasculopathy, Infantile-Onset 57 75 29 6 40 73
Savi 57 59 75
Sting-Associated Vasculopathy with Onset in Infancy 59

Characteristics:

Orphanet epidemiological data:

59
sting-associated vasculopathy with onset in infancy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in first weeks of life
vasculitic symptoms are associated with cold exposure (in some patients)


HPO:

32
sting-associated vasculopathy, infantile-onset:
Onset and clinical course variable expressivity neonatal onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Sting-Associated Vasculopathy, Infantile-Onset

OMIM : 57 STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014). (615934)

MalaCards based summary : Sting-Associated Vasculopathy, Infantile-Onset, also known as savi, is related to sting-associated vasculopathy with onset in infancy, and has symptoms including fever and onychomadesis. An important gene associated with Sting-Associated Vasculopathy, Infantile-Onset is TMEM173 (Transmembrane Protein 173). Affiliated tissues include lung, skin and bone, and related phenotypes are failure to thrive and recurrent respiratory infections

UniProtKB/Swiss-Prot : 75 STING-associated vasculopathy, infantile-onset: An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease.

Related Diseases for Sting-Associated Vasculopathy, Infantile-Onset

Diseases related to Sting-Associated Vasculopathy, Infantile-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sting-associated vasculopathy with onset in infancy 11.7

Symptoms & Phenotypes for Sting-Associated Vasculopathy, Infantile-Onset

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
poor growth

Metabolic Features:
fever

Skin Nails Hair Nails:
nail dystrophy
nail loss
nailfold capillary tortuosity

Skin Nails Hair Skin:
erythema
telangiectasia
malar rash
livedo reticularis
ulceration
more
Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased c-reactive protein

Muscle Soft Tissue:
myalgia (in some patients)
myositis (in some patients)

Cardiovascular Vascular:
vasculitis, particularly of the capillaries

Skeletal Feet:
amputation resulting from acral necrosis (in some patients)

Respiratory:
recurrent respiratory infections

Hematology:
anemia
thrombocytosis

Immunology:
recurrent infections
leukopenia
hypergammaglobulinemia
decreased t cells
normal b cells
more
Respiratory Lung:
follicular hyperplasia
interstitial lung disease
lung fibrosis
macrophage alveolitis

Skeletal:
arthralgia (in some patients)
joint stiffness (in some patients)

Head And Neck Nose:
nasal septal perforation (in some patients)

Skeletal Hands:
amputation resulting from acral necrosis (in some patients)


Clinical features from OMIM:

615934

Human phenotypes related to Sting-Associated Vasculopathy, Infantile-Onset:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent respiratory infections 32 HP:0002205
3 joint stiffness 32 occasional (7.5%) HP:0001387
4 fever 32 HP:0001945
5 arthralgia 32 occasional (7.5%) HP:0002829
6 anemia 32 HP:0001903
7 nail dystrophy 32 HP:0008404
8 growth delay 32 HP:0001510
9 myalgia 32 occasional (7.5%) HP:0003326
10 thrombocytosis 32 HP:0001894
11 erythema 32 HP:0010783
12 myositis 32 occasional (7.5%) HP:0100614
13 cutis marmorata 32 HP:0000965
14 increased antibody level in blood 32 HP:0010702
15 leukopenia 32 HP:0001882
16 interstitial pulmonary abnormality 32 HP:0006530
17 pustule 32 HP:0200039
18 elevated erythrocyte sedimentation rate 32 HP:0003565
19 raynaud phenomenon 32 occasional (7.5%) HP:0030880
20 telangiectasia 32 HP:0001009
21 follicular hyperplasia 32 HP:0002729
22 malar rash 32 HP:0025300

UMLS symptoms related to Sting-Associated Vasculopathy, Infantile-Onset:


fever, onychomadesis

Drugs & Therapeutics for Sting-Associated Vasculopathy, Infantile-Onset

Search Clinical Trials , NIH Clinical Center for Sting-Associated Vasculopathy, Infantile-Onset

Genetic Tests for Sting-Associated Vasculopathy, Infantile-Onset

Genetic tests related to Sting-Associated Vasculopathy, Infantile-Onset:

# Genetic test Affiliating Genes
1 Sting-Associated Vasculopathy, Infantile-Onset 29 TMEM173

Anatomical Context for Sting-Associated Vasculopathy, Infantile-Onset

MalaCards organs/tissues related to Sting-Associated Vasculopathy, Infantile-Onset:

41
Lung, Skin, Bone, T Cells, B Cells

Publications for Sting-Associated Vasculopathy, Infantile-Onset

Articles related to Sting-Associated Vasculopathy, Infantile-Onset:

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

Variations for Sting-Associated Vasculopathy, Infantile-Onset

UniProtKB/Swiss-Prot genetic disease variations for Sting-Associated Vasculopathy, Infantile-Onset:

75
# Symbol AA change Variation ID SNP ID
1 TMEM173 p.Val147Leu VAR_071878 rs587777611
2 TMEM173 p.Asn154Ser VAR_071879 rs587777609
3 TMEM173 p.Val155Met VAR_071880 rs587777610

ClinVar genetic disease variations for Sting-Associated Vasculopathy, Infantile-Onset:

6
(show all 32)
# 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.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs587777609 GRCh37 Chromosome 5, 138860434: 138860434
3 TMEM173 NM_198282.3(TMEM173): c.463G> A (p.Val155Met) single nucleotide variant Pathogenic rs587777610 GRCh38 Chromosome 5, 139480847: 139480847
4 TMEM173 NM_198282.3(TMEM173): c.463G> A (p.Val155Met) single nucleotide variant Pathogenic rs587777610 GRCh37 Chromosome 5, 138860432: 138860432
5 TMEM173 NM_198282.3(TMEM173): c.439G> C (p.Val147Leu) single nucleotide variant Pathogenic rs587777611 GRCh38 Chromosome 5, 139480871: 139480871
6 TMEM173 NM_198282.3(TMEM173): c.439G> C (p.Val147Leu) single nucleotide variant Pathogenic rs587777611 GRCh37 Chromosome 5, 138860456: 138860456
7 TMEM173 NM_198282.3(TMEM173): c.575G> T (p.Gly192Val) single nucleotide variant Uncertain significance rs201096097 GRCh37 Chromosome 5, 138858039: 138858039
8 TMEM173 NM_198282.3(TMEM173): c.575G> T (p.Gly192Val) single nucleotide variant Uncertain significance rs201096097 GRCh38 Chromosome 5, 139478454: 139478454
9 TMEM173 NM_198282.3(TMEM173): c.532C> T (p.Arg178Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 138858082: 138858082
10 TMEM173 NM_198282.3(TMEM173): c.532C> T (p.Arg178Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 139478497: 139478497
11 TMEM173 NM_198282.3(TMEM173): c.937G> A (p.Ala313Thr) single nucleotide variant Benign rs140837017 GRCh37 Chromosome 5, 138856923: 138856923
12 TMEM173 NM_198282.3(TMEM173): c.937G> A (p.Ala313Thr) single nucleotide variant Benign rs140837017 GRCh38 Chromosome 5, 139477338: 139477338
13 TMEM173 NM_198282.3(TMEM173): c.659G> A (p.Arg220His) single nucleotide variant Benign rs144010323 GRCh37 Chromosome 5, 138857955: 138857955
14 TMEM173 NM_198282.3(TMEM173): c.659G> A (p.Arg220His) single nucleotide variant Benign rs144010323 GRCh38 Chromosome 5, 139478370: 139478370
15 TMEM173 NM_198282.3(TMEM173): c.580G> T (p.Val194Leu) single nucleotide variant Benign rs114834699 GRCh38 Chromosome 5, 139478449: 139478449
16 TMEM173 NM_198282.3(TMEM173): c.580G> T (p.Val194Leu) single nucleotide variant Benign rs114834699 GRCh37 Chromosome 5, 138858034: 138858034
17 TMEM173 NM_198282.3(TMEM173): c.548A> G (p.Asn183Ser) single nucleotide variant Uncertain significance rs201277595 GRCh37 Chromosome 5, 138858066: 138858066
18 TMEM173 NM_198282.3(TMEM173): c.548A> G (p.Asn183Ser) single nucleotide variant Uncertain significance rs201277595 GRCh38 Chromosome 5, 139478481: 139478481
19 TMEM173 NM_198282.3(TMEM173): c.376C> A (p.Leu126Ile) single nucleotide variant Benign rs142609349 GRCh37 Chromosome 5, 138860779: 138860779
20 TMEM173 NM_198282.3(TMEM173): c.376C> A (p.Leu126Ile) single nucleotide variant Benign rs142609349 GRCh38 Chromosome 5, 139481194: 139481194
21 TMEM173 NM_198282.3(TMEM173): c.590G> A (p.Arg197Gln) single nucleotide variant Uncertain significance rs760564156 GRCh37 Chromosome 5, 138858024: 138858024
22 TMEM173 NM_198282.3(TMEM173): c.590G> A (p.Arg197Gln) single nucleotide variant Uncertain significance rs760564156 GRCh38 Chromosome 5, 139478439: 139478439
23 TMEM173 NM_198282.3(TMEM173): c.33G> A (p.Pro11=) single nucleotide variant Benign rs149842998 GRCh38 Chromosome 5, 139481672: 139481672
24 TMEM173 NM_198282.3(TMEM173): c.33G> A (p.Pro11=) single nucleotide variant Benign rs149842998 GRCh37 Chromosome 5, 138861257: 138861257
25 TMEM173 NM_198282.3(TMEM173): c.760-9C> A single nucleotide variant Likely benign rs200232916 GRCh38 Chromosome 5, 139477524: 139477524
26 TMEM173 NM_198282.3(TMEM173): c.760-9C> A single nucleotide variant Likely benign rs200232916 GRCh37 Chromosome 5, 138857109: 138857109
27 TMEM173 NM_198282.3(TMEM173): c.61G> A (p.Ala21Thr) single nucleotide variant Likely benign rs140011636 GRCh38 Chromosome 5, 139481644: 139481644
28 TMEM173 NM_198282.3(TMEM173): c.61G> A (p.Ala21Thr) single nucleotide variant Likely benign rs140011636 GRCh37 Chromosome 5, 138861229: 138861229
29 TMEM173 NM_198282.3(TMEM173): c.929G> A (p.Arg310His) single nucleotide variant Uncertain significance rs144683867 GRCh38 Chromosome 5, 139477346: 139477346
30 TMEM173 NM_198282.3(TMEM173): c.929G> A (p.Arg310His) single nucleotide variant Uncertain significance rs144683867 GRCh37 Chromosome 5, 138856931: 138856931
31 TMEM173 NM_198282.3(TMEM173): c.757C> T (p.Arg253Trp) single nucleotide variant Uncertain significance rs199795457 GRCh38 Chromosome 5, 139478272: 139478272
32 TMEM173 NM_198282.3(TMEM173): c.757C> T (p.Arg253Trp) single nucleotide variant Uncertain significance rs199795457 GRCh37 Chromosome 5, 138857857: 138857857

Expression for Sting-Associated Vasculopathy, Infantile-Onset

Search GEO for disease gene expression data for Sting-Associated Vasculopathy, Infantile-Onset.

Pathways for Sting-Associated Vasculopathy, Infantile-Onset

GO Terms for Sting-Associated Vasculopathy, Infantile-Onset

Sources for Sting-Associated Vasculopathy, Infantile-Onset

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