SAVI
MCID: STN012
MIFTS: 40

Sting-Associated Vasculopathy, Infantile-Onset (SAVI)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Skin 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 74 29 6 40 72
Savi 57 59 74
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:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity neonatal onset


Classifications:



External Ids:

OMIM 57 615934
ICD10 via Orphanet 34 M35.8
Orphanet 59 ORPHA425120
UMLS 72 C4014722

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 singleton-merten syndrome, 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 breast, and related phenotypes are joint stiffness and arthralgia

UniProtKB/Swiss-Prot : 74 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 in the Sting-Associated Vasculopathy, Infantile-Onset family:

Sting-Associated Vasculopathy with Onset in Infancy

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 sting-associated vasculopathy with onset in infancy 12.0
2 singleton-merten syndrome 11.3
3 interstitial lung disease 10.2
4 lung disease 10.2
5 exanthem 10.2
6 vasculitis 10.2
7 autoimmune disease 10.1
8 migraine with or without aura 1 10.1
9 dowling-degos disease 1 10.1
10 helicobacter pylori infection 10.1
11 pulmonary hypertension 10.1
12 respiratory failure 10.1
13 diphtheria 10.1
14 telangiectasis 10.1
15 cholera 10.1
16 idiopathic interstitial pneumonia 10.1
17 fibrosarcoma 10.1
18 pulmonary fibrosis 10.1
19 lymphopenia 10.1
20 lupus erythematosus 10.1
21 headache 10.1

Graphical network of the top 20 diseases related to Sting-Associated Vasculopathy, Infantile-Onset:



Diseases related to Sting-Associated Vasculopathy, Infantile-Onset

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

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

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

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

Immunology:
recurrent infections
leukopenia
hypergammaglobulinemia
decreased t cells
normal b cells
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

Skin Nails Hair Skin:
erythema
telangiectasia
malar rash
livedo reticularis
ulceration
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

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


fever, onychomadesis

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

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Evaluation of Three Fraction Accelerated Partial Breast Irradiation as the Sole Method of Radiation Therapy for Low-risk Stage 0 and I Breast Carcinoma Recruiting NCT03612648 Phase 1, Phase 2
2 A Prospective, Single-Arm, Multi-Site, Clinical Evaluation of the SAVI SCOUT® Surgical Guidance System for the Location of Non-Palpable Breast Lesions During Excision Unknown status NCT02370082
3 ACURATE TA™ Valve Implantation: SAVI Registry (Surveillance Plan #2011-02) (TA-SAVI) Completed NCT03143686
4 Symetis ACURATE Neo™ Valve Implantation Using TransFemoral Access: SAVI TF Registry Completed NCT02306226
5 Drain Placement for Seroma Prevention After Mammosite/SAVI Catheter Removal Completed NCT02390661
6 Evaluation of Longer Duration Use of the SAVI SCOUT Surgical Guidance System for Excision of Breast and Axillary Lesions in Neo-adjuvant Therapy Patients: A Pilot Study Completed NCT03015649
7 Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis Recruiting NCT00059748
8 Using Radar Technology to Tag Abnormal Lymph Nodes for Removal During Surgery Following Neoadjuvant Chemotherapy Recruiting NCT03411070
9 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT02974595
10 Compassionate Use Treatment Protocol I4V-MC-JAGA: Treatment of Conditions Expected to Benefit From JAK 1/2 Inhibition: CANDLE, CANDLE-Related Conditions, SAVI and Severe Juvenile Dermatomyositis No longer available NCT01724580 Baricitinib
11 Patient Registry for Prospective Research on Evolving Radiation Oncology Techniques and Quality Withdrawn NCT02368106

Search 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, Breast, Bone, Lymph Node, B Cells, T Cells

Publications for Sting-Associated Vasculopathy, Infantile-Onset

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

(show top 50) (show all 231)
# Title Authors PMID Year
1
Activated STING in a vascular and pulmonary syndrome. 38 8 71
25029335 2014
2
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 8 71
25401470 2014
3
SAVI SCOUT as a Novel Localization and Surgical Navigation System for More Accurate Localization and Resection of Pulmonary Nodules. 38
31027475 2019
4
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome. 38
31144250 2019
5
Residential greenness and blood lipids in urban-dwelling adults: The 33 Communities Chinese Health Study. 38
30981931 2019
6
[Fraction of absorbed photosynthetically active radiation over summer maize canopy estimated by hyperspectral remote sensing under different drought conditions.] 38
31257775 2019
7
Biological activity of new flavonoids and phenolic compounds from Cirsium italicum (Savi) DC. 38
31219371 2019
8
Expression of a constitutively active human STING mutant in hematopoietic cells produces an Ifnar1-dependent vasculopathy in mice. 38
31221625 2019
9
Community greenness, blood pressure, and hypertension in urban dwellers: The 33 Communities Chinese Health Study. 38
30878868 2019
10
Hierarchy of clinical manifestations in SAVI N153S and V154M mouse models. 38
30944222 2019
11
Trajectories of Perceived Workplace Age Discrimination and Long-Term Associations With Mental, Self-Rated, and Occupational Health. 38
28977664 2019
12
STING palmitoylation as a therapeutic target. 38
30796349 2019
13
A comparison of satellite-based indices for hazard assessment of MSW open dumps using spatial analysis. 38
30537910 2019
14
Associations of greenness with diabetes mellitus and glucose-homeostasis markers: The 33 Communities Chinese Health Study. 38
30545606 2019
15
A Human Gain-of-Function STING Mutation Causes Immunodeficiency and Gammaherpesvirus-Induced Pulmonary Fibrosis in Mice. 38
30463976 2019
16
[Discovering new antiretroviral compounds in "Big Data" chemical space of the SAVI library]. 38
30950810 2019
17
Response of plant production to growing/non-growing season asymmetric warming in an alpine meadow of the Northern Tibetan Plateau. 38
30296774 2019
18
TMEM173 variants and potential importance to human biology and disease. 38
29728611 2019
19
Prospective Comparison of Toxicity and Cosmetic Outcome After Accelerated Partial Breast Irradiation With Conformal External Beam Radiotherapy or Single-Entry Multilumen Intracavitary Brachytherapy. 38
30125673 2019
20
Satellite image fusion to detect changing surface permeability and emerging urban heat islands in a fast-growing city. 38
30601832 2019
21
What's new in autoinflammation? 38
30552566 2018
22
Greenspace seems protective of both high and low blood pressure among residents of an Alpine valley. 38
30273867 2018
23
Monitoring ecosystem reclamation recovery using optical remote sensing: Comparison with field measurements and eddy covariance. 38
29906733 2018
24
Daily Social Interactions and the Biological Stress Response: Are There Age Differences in Links Between Social Interactions and Alpha-Amylase? 38
29240901 2018
25
SAVI SCOUT® localization of breast lesions as a practical alternative to wires: Outcomes and suggestions for trouble-shooting. 38
30193186 2018
26
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients. 38
29134648 2018
27
Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling. 38
30061387 2018
28
The SAVI-TF Registry: 1-Year Outcomes of the European Post-Market Registry Using the ACURATE neo Transcatheter Heart Valve Under Real-World Conditions in 1,000 Patients. 38
30025731 2018
29
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. 38
29155101 2018
30
Utilization of multiple SAVI SCOUT surgical guidance system reflectors in the same breast: A single-institution feasibility study. 38
29251387 2018
31
Evolution of brachytherapy treatment planning to deterministic radiation transport for calculation of cardiac dose. 38
29609845 2018
32
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. 38
29649002 2018
33
Behavior of vegetation/soil indices in shaded and sunlit pixels and evaluation of different shadow compensation methods using UAV high-resolution imagery over vineyards. 38
31086430 2018
34
[Retrieval of leaf area index of Phyllostachys praecox forest based on MODIS reflectance time series data.] 38
30039679 2018
35
Safe Birth and Cultural Safety in southern Mexico: study protocol for a randomised controlled trial. 38
29973241 2018
36
Combination of lumped hydrological and remote-sensing models to evaluate water resources in a semi-arid high altitude ungauged watershed of Sierra Nevada (Southern Spain). 38
29289777 2018
37
Applicability of Downscaling Land Surface Temperature by Using Normalized Difference Sand Index. 38
29934513 2018
38
Study on the dose modification factor of strut adjusted volume implant (SAVI) with a 169Yb source using MCNP4C. 38
29756165 2018
39
Development of a Validated Interferon Score Using NanoString Technology. 38
29638206 2018
40
[Stimulator of interferon genes-associated vasculopathy with onset in infancy: first case report in China]. 38
29518827 2018
41
So Close and Yet So Irritating: Negative Relations and Implications for Well-being by Age and Closeness. 38
29596623 2018
42
Outcomes by molecular subtype after accelerated partial breast irradiation using single-entry catheters. 38
29146102 2018
43
[Advances in the studies on topographic effects of vegetation indices.] 38
29692084 2018
44
Real-world experience using the ACURATE neo prosthesis: 30-day outcomes of 1,000 patients enrolled in the SAVI TF registry. 38
29131801 2018
45
Phaeophleospora vochysiae Savi & Glienke sp. nov. Isolated from Vochysia divergens Found in the Pantanal, Brazil, Produces Bioactive Secondary Metabolites. 38
29449610 2018
46
Efficiency of using the day-of-implant CT for planning of SAVI APBI. 38
28869144 2018
47
Vasculitis in Systemic Autoinflammatory Diseases. 38
30560109 2018
48
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes. 38
29032440 2018
49
A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy. 38
30038614 2018
50
Reflector-guided breast tumor localization versus wire localization for lumpectomies: A comparison of surgical outcomes. 38
28818762 2018

Variations for Sting-Associated Vasculopathy, Infantile-Onset

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

6 (show all 35)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TMEM173 NM_198282.4(TMEM173): c.842G> A (p.Arg281Gln) single nucleotide variant Pathogenic 5:138857018-138857018 5:139477433-139477433
2 TMEM173 NM_198282.4(TMEM173): c.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs587777609 5:138860434-138860434 5:139480849-139480849
3 TMEM173 NM_198282.4(TMEM173): c.463G> A (p.Val155Met) single nucleotide variant Pathogenic rs587777610 5:138860432-138860432 5:139480847-139480847
4 TMEM173 NM_198282.4(TMEM173): c.439G> C (p.Val147Leu) single nucleotide variant Pathogenic rs587777611 5:138860456-138860456 5:139480871-139480871
5 TMEM173 NM_198282.4(TMEM173): c.61G> A (p.Ala21Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140011636 5:138861229-138861229 5:139481644-139481644
6 TMEM173 NM_198282.4(TMEM173): c.929G> A (p.Arg310His) single nucleotide variant Uncertain significance rs144683867 5:138856931-138856931 5:139477346-139477346
7 TMEM173 NM_198282.4(TMEM173): c.757C> T (p.Arg253Trp) single nucleotide variant Uncertain significance rs199795457 5:138857857-138857857 5:139478272-139478272
8 TMEM173 NM_198282.4(TMEM173): c.1127C> G (p.Thr376Arg) single nucleotide variant Uncertain significance 5:138855859-138855859 5:139476274-139476274
9 TMEM173 NM_198282.4(TMEM173): c.1123C> T (p.Arg375Cys) single nucleotide variant Uncertain significance 5:138855863-138855863 5:139476278-139476278
10 TMEM173 NM_198282.4(TMEM173): c.979C> A (p.Gln327Lys) single nucleotide variant Uncertain significance 5:138856007-138856007 5:139476422-139476422
11 TMEM173 NM_198282.4(TMEM173): c.952G> T (p.Ala318Ser) single nucleotide variant Uncertain significance 5:138856034-138856034 5:139476449-139476449
12 TMEM173 NM_198282.4(TMEM173): c.1076A> G (p.Gln359Arg) single nucleotide variant Uncertain significance 5:138855910-138855910 5:139476325-139476325
13 TMEM173 NM_198282.4(TMEM173): c.1025del (p.Thr342fs) deletion Uncertain significance 5:138855961-138855961 5:139476376-139476376
14 TMEM173 NM_198282.4(TMEM173): c.1000C> T (p.Arg334Trp) single nucleotide variant Uncertain significance 5:138855986-138855986 5:139476401-139476401
15 TMEM173 NM_198282.4(TMEM173): c.761C> T (p.Ala254Val) single nucleotide variant Uncertain significance 5:138857099-138857099 5:139477514-139477514
16 TMEM173 NM_198282.4(TMEM173): c.637A> C (p.Ser213Arg) single nucleotide variant Uncertain significance 5:138857977-138857977 5:139478392-139478392
17 TMEM173 NM_198282.4(TMEM173): c.602T> C (p.Leu201Pro) single nucleotide variant Uncertain significance 5:138858012-138858012 5:139478427-139478427
18 TMEM173 NM_198282.4(TMEM173): c.398T> A (p.Leu133His) single nucleotide variant Uncertain significance 5:138860757-138860757 5:139481172-139481172
19 TMEM173 NM_198282.4(TMEM173): c.395T> G (p.Ile132Ser) single nucleotide variant Uncertain significance 5:138860760-138860760 5:139481175-139481175
20 TMEM173 NM_198282.4(TMEM173): c.281G> A (p.Arg94His) single nucleotide variant Uncertain significance 5:138860874-138860874 5:139481289-139481289
21 TMEM173 NM_198282.4(TMEM173): c.49G> A (p.Gly17Arg) single nucleotide variant Uncertain significance 5:138861241-138861241 5:139481656-139481656
22 TMEM173 NM_198282.4(TMEM173): c.44dup (p.His16fs) duplication Uncertain significance 5:138861246-138861246 5:139481664-139481664
23 TMEM173 NM_198282.4(TMEM173): c.32C> T (p.Pro11Leu) single nucleotide variant Uncertain significance 5:138861258-138861258 5:139481673-139481673
24 TMEM173 NM_198282.4(TMEM173): c.26C> T (p.Ser9Phe) single nucleotide variant Uncertain significance 5:138861264-138861264 5:139481679-139481679
25 TMEM173 NM_198282.4(TMEM173): c.7C> T (p.His3Tyr) single nucleotide variant Uncertain significance 5:138861283-138861283 5:139481698-139481698
26 TMEM173 NM_198282.4(TMEM173): c.575G> T (p.Gly192Val) single nucleotide variant Uncertain significance rs201096097 5:138858039-138858039 5:139478454-139478454
27 TMEM173 NM_198282.4(TMEM173): c.532C> T (p.Arg178Trp) single nucleotide variant Uncertain significance rs1240603758 5:138858082-138858082 5:139478497-139478497
28 TMEM173 NM_198282.4(TMEM173): c.548A> G (p.Asn183Ser) single nucleotide variant Uncertain significance rs201277595 5:138858066-138858066 5:139478481-139478481
29 TMEM173 NM_198282.4(TMEM173): c.590G> A (p.Arg197Gln) single nucleotide variant Uncertain significance rs760564156 5:138858024-138858024 5:139478439-139478439
30 TMEM173 NM_198282.4(TMEM173): c.760-9C> A single nucleotide variant Likely benign rs200232916 5:138857109-138857109 5:139477524-139477524
31 TMEM173 NM_198282.4(TMEM173): c.33G> A (p.Pro11=) single nucleotide variant Benign rs149842998 5:138861257-138861257 5:139481672-139481672
32 TMEM173 NM_198282.4(TMEM173): c.376C> A (p.Leu126Ile) single nucleotide variant Benign rs142609349 5:138860779-138860779 5:139481194-139481194
33 TMEM173 NM_198282.4(TMEM173): c.937G> A (p.Ala313Thr) single nucleotide variant Benign rs140837017 5:138856923-138856923 5:139477338-139477338
34 TMEM173 NM_198282.4(TMEM173): c.659G> A (p.Arg220His) single nucleotide variant Benign rs144010323 5:138857955-138857955 5:139478370-139478370
35 TMEM173 NM_198282.4(TMEM173): c.580G> T (p.Val194Leu) single nucleotide variant Benign rs114834699 5:138858034-138858034 5:139478449-139478449

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

74
# 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

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

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