SAVI
MCID: STN012
MIFTS: 34

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 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 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 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 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:

# Related Disease Score Top Affiliating Genes
1 sting-associated vasculopathy with onset in infancy 11.8
2 singleton-merten syndrome 11.1
3 interstitial lung disease 10.1
4 lung disease 10.1
5 helicobacter pylori infection 10.1
6 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

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 raynaud phenomenon 32 occasional (7.5%) HP:0030880
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

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, Heart, Breast

Publications for Sting-Associated Vasculopathy, Infantile-Onset

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

(show all 42)
# Title Authors Year
1
Efficiency of using the day-of-implant CT for planning of SAVI APBI. ( 28869144 )
2018
2
Real-world experience using the ACURATE neo prosthesis: 30-day outcomes of 1,000 patients enrolled in the SAVI TF registry. ( 29131801 )
2018
3
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients. ( 29134648 )
2018
4
Utilization of multiple SAVI SCOUT surgical guidance system reflectors in the same breast: A single-institution feasibility study. ( 29251387 )
2018
5
Phaeophleospora vochysiae Savi & Glienke sp. nov. Isolated from Vochysia divergens Found in the Pantanal, Brazil, Produces Bioactive Secondary Metabolites. ( 29449610 )
2018
6
Study on the dose modification factor of strut adjusted volume implant (SAVI) with a 169Yb source using MCNP4C. ( 29756165 )
2018
7
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. ( 30025731 )
2018
8
SAVI SCOUT® localization of breast lesions as a practical alternative to wires: Outcomes and suggestions for trouble-shooting. ( 30193186 )
2018
9
Monosaccharide composition of acidic gum exudates from Indian Acacia tortilis ssp. raddiana (Savi) Brenan. ( 27693833 )
2017
10
Strut-adjusted volume implant (SAVI) brachytherapy-based accelerated partial breast irradiation (APBI) in African American women. ( 28070767 )
2017
11
Essential Oil Extraction, Chemical Analysis and Anti-Candida Activity of Calamintha nepeta (L.) Savi subsp. glandulosa (Req.) Ball-New Approaches. ( 28134788 )
2017
12
Transcatheter aortic valve implantation using the ACURATE TA™ system: 1-year outcomes and comparison of 500 patients from the SAVI registries. ( 28175264 )
2017
13
Calamintha nepeta (L.) Savi and its Main Essential Oil Constituent Pulegone: Biological Activities and Chemistry. ( 28216606 )
2017
14
Implementing the SAVI SCOUT System in Community Radiology Practice. ( 28601614 )
2017
15
Postcolumn determination of polyphenolic antioxidants in Cirsium vulgare (Savi) Ten. extracts. ( 28779529 )
2017
16
Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy. ( 27585386 )
2016
17
Evaluation of the SAVI SCOUT Surgical Guidance System for Localization and Excision of Nonpalpable Breast Lesions: A Feasibility Study. ( 27304083 )
2016
18
Traditional knowledge and use of wild mushrooms by Mixtecs or Ñuu savi, the people of the rain, from Southeastern Mexico. ( 27595599 )
2016
19
Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus. ( 27678529 )
2016
20
Heterochromatin characterization through differential fluorophore binding pattern in some species of Vigna Savi. ( 25303854 )
2015
21
How to Calculate Value of Information in Seconds Using 'Savi', the Sheffield Accelerated Value of Information Web App. ( 26534063 )
2015
22
SU-E-T-309: Dosimetric Study and Clinical Implementation of an HDR Applicator of SAVI for Partial Breast Irradiation. ( 28517287 )
2012
23
Comparative chemical composition and antioxidant activity of Calamintha nepeta (L.) Savi subsp. glandulosa (Req.) Nyman and Calamintha grandiflora (L.) Moench (Labiatae). ( 21861645 )
2012
24
A case report on bilateral partial breast irradiation using SAVI. ( 22192486 )
2012
25
SU-E-T-432: Comparison of HDR Treatment Plans for Interstitial Brachytherapy with Intracavitary Savi Brachytherapy for Post Lumpectomy Breast Cancer. ( 28517223 )
2012
26
SU-E-T-322: A Dosimetric Comparison of PBI Brachytherapy Techniques: SAVI, Contura, and Tube and Button Applicators. ( 28517257 )
2012
27
Initial clinical experience with the Strut-Adjusted Volume Implant (SAVI) breast brachytherapy device for accelerated partial-breast irradiation (APBI): first 100 patients with more than 1 year of follow-up. ( 20646847 )
2011
28
Dosimetric effects of an air cavity for the SAVI partial breast irradiation applicator. ( 20879554 )
2010
29
Dosimetry evaluation of SAVI-based HDR brachytherapy for partial breast irradiation. ( 20927219 )
2010
30
Chemical composition and biological assays of essential oils of Calamintha nepeta (L.) Savi subsp. nepeta (Lamiaceae). ( 20981614 )
2010
31
Genetic diversity and phylogenetic relationships in Vigna Savi germplasm revealed by DNA amplification fingerprinting. ( 17632575 )
2007
32
Seldinger-assisted videotelescopic intubation (SAVI): a common sense approach to the difficult pediatric airway. ( 15886616 )
2005
33
Effect of sodium metabisulphite on germination, growth and yield of Vigna sinensis, Savi. ( 15248661 )
2003
34
Re: "Chronic Helicobacter pylori infection and migraine: a case-control study" (Pinessi L, Savi L, Pellicano R, et al. Headache. 2000;40:836-839). ( 11903554 )
2002
35
Cationic form of beta-galactosidase in the germinating seeds of Vigna sinensis (Linn) Savi. ( 3098179 )
1986
36
Immunopotentiator separated from hot water extract of the seed of Benincasa cerifera Savi (Tohgashi). ( 3872710 )
1985
37
Characterization of Rhizobia from Ineffective Alfalfa Nodules: Ability to Nodulate Bean Plants [Phaseolus vulgaris (L.) Savi.]. ( 16346942 )
1985
38
Regulation of the F-ATPase from mitochondria of Vigna sinensis (L.) Savi cv. Pitiuba by spermine, spermidine, putrescine, Mg2+, Na+, and K+. ( 6452941 )
1981
39
The effect of atractyloside and carboxyatractyloside on adenine nucleotide translocation in mitochondria of Vigna sinensis (L.) Savi cv. seridó. ( 464602 )
1979
40
Organization and ultrastructure of mechanoreceptors (Savi vesicles) in the elasmobranch Torpedo. ( 4837706 )
1974
41
Effect of heat on seed transmission of mosaic disease of cowpea (Vigna sinensis Savi). ( 5115807 )
1971
42
THE VESICLES OF SAVI. ( 17787825 )
1892

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 44)
# 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 Likely pathogenic NC_012920.1: m.14743A> G single nucleotide variant 527236161 rsRCV000133403 Chromosome MT, 14743:14743 143864
8 Likely pathogenic NC_012920.1: m.14743A> G single nucleotide variant 527236161 rsRCV000133403 Chromosome MT, 14743:14743 143864
9 TMEM173 NM_198282.3(TMEM173): c.575G> T (p.Gly192Val) single nucleotide variant Uncertain significance rs201096097 GRCh37 Chromosome 5, 138858039: 138858039
10 TMEM173 NM_198282.3(TMEM173): c.575G> T (p.Gly192Val) single nucleotide variant Uncertain significance rs201096097 GRCh38 Chromosome 5, 139478454: 139478454
11 TMEM173 NM_198282.3(TMEM173): c.532C> T (p.Arg178Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 138858082: 138858082
12 TMEM173 NM_198282.3(TMEM173): c.532C> T (p.Arg178Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 139478497: 139478497
13 TMEM173 NM_198282.3(TMEM173): c.937G> A (p.Ala313Thr) single nucleotide variant Benign rs140837017 GRCh38 Chromosome 5, 139477338: 139477338
14 TMEM173 NM_198282.3(TMEM173): c.937G> A (p.Ala313Thr) single nucleotide variant Benign rs140837017 GRCh37 Chromosome 5, 138856923: 138856923
15 TMEM173 NM_198282.3(TMEM173): c.659G> A (p.Arg220His) single nucleotide variant Benign rs144010323 GRCh37 Chromosome 5, 138857955: 138857955
16 TMEM173 NM_198282.3(TMEM173): c.659G> A (p.Arg220His) single nucleotide variant Benign rs144010323 GRCh38 Chromosome 5, 139478370: 139478370
17 TMEM173 NM_198282.3(TMEM173): c.580G> T (p.Val194Leu) single nucleotide variant Benign rs114834699 GRCh38 Chromosome 5, 139478449: 139478449
18 TMEM173 NM_198282.3(TMEM173): c.580G> T (p.Val194Leu) single nucleotide variant Benign rs114834699 GRCh37 Chromosome 5, 138858034: 138858034
19 TMEM173 NM_198282.3(TMEM173): c.548A> G (p.Asn183Ser) single nucleotide variant Uncertain significance rs201277595 GRCh38 Chromosome 5, 139478481: 139478481
20 TMEM173 NM_198282.3(TMEM173): c.548A> G (p.Asn183Ser) single nucleotide variant Uncertain significance rs201277595 GRCh37 Chromosome 5, 138858066: 138858066
21 TMEM173 NM_198282.3(TMEM173): c.376C> A (p.Leu126Ile) single nucleotide variant Benign rs142609349 GRCh37 Chromosome 5, 138860779: 138860779
22 TMEM173 NM_198282.3(TMEM173): c.376C> A (p.Leu126Ile) single nucleotide variant Benign rs142609349 GRCh38 Chromosome 5, 139481194: 139481194
23 TMEM173 NM_198282.3(TMEM173): c.590G> A (p.Arg197Gln) single nucleotide variant Uncertain significance rs760564156 GRCh37 Chromosome 5, 138858024: 138858024
24 TMEM173 NM_198282.3(TMEM173): c.590G> A (p.Arg197Gln) single nucleotide variant Uncertain significance rs760564156 GRCh38 Chromosome 5, 139478439: 139478439
25 TMEM173 NM_198282.3(TMEM173): c.33G> A (p.Pro11=) single nucleotide variant Benign rs149842998 GRCh38 Chromosome 5, 139481672: 139481672
26 TMEM173 NM_198282.3(TMEM173): c.33G> A (p.Pro11=) single nucleotide variant Benign rs149842998 GRCh37 Chromosome 5, 138861257: 138861257
27 TMEM173 NM_198282.3(TMEM173): c.760-9C> A single nucleotide variant Likely benign rs200232916 GRCh37 Chromosome 5, 138857109: 138857109
28 TMEM173 NM_198282.3(TMEM173): c.760-9C> A single nucleotide variant Likely benign rs200232916 GRCh38 Chromosome 5, 139477524: 139477524
29 TMEM173 NM_198282.3(TMEM173): c.61G> A (p.Ala21Thr) single nucleotide variant Likely benign rs140011636 GRCh38 Chromosome 5, 139481644: 139481644
30 TMEM173 NM_198282.3(TMEM173): c.61G> A (p.Ala21Thr) single nucleotide variant Likely benign rs140011636 GRCh37 Chromosome 5, 138861229: 138861229
31 TMEM173 NM_198282.3(TMEM173): c.929G> A (p.Arg310His) single nucleotide variant Uncertain significance rs144683867 GRCh37 Chromosome 5, 138856931: 138856931
32 TMEM173 NM_198282.3(TMEM173): c.929G> A (p.Arg310His) single nucleotide variant Uncertain significance rs144683867 GRCh38 Chromosome 5, 139477346: 139477346
33 TMEM173 NM_198282.3(TMEM173): c.757C> T (p.Arg253Trp) single nucleotide variant Uncertain significance rs199795457 GRCh37 Chromosome 5, 138857857: 138857857
34 TMEM173 NM_198282.3(TMEM173): c.757C> T (p.Arg253Trp) single nucleotide variant Uncertain significance rs199795457 GRCh38 Chromosome 5, 139478272: 139478272
35 TMEM173 NM_198282.3(TMEM173): c.1127C> G (p.Thr376Arg) single nucleotide variant Uncertain significance rs370381358 GRCh37 Chromosome 5, 138855859: 138855859
36 TMEM173 NM_198282.3(TMEM173): c.1127C> G (p.Thr376Arg) single nucleotide variant Uncertain significance rs370381358 GRCh38 Chromosome 5, 139476274: 139476274
37 TMEM173 NM_198282.3(TMEM173): c.1123C> T (p.Arg375Cys) single nucleotide variant Uncertain significance rs144606267 GRCh37 Chromosome 5, 138855863: 138855863
38 TMEM173 NM_198282.3(TMEM173): c.1123C> T (p.Arg375Cys) single nucleotide variant Uncertain significance rs144606267 GRCh38 Chromosome 5, 139476278: 139476278
39 TMEM173 NM_198282.3(TMEM173): c.979C> A (p.Gln327Lys) single nucleotide variant Uncertain significance rs201015563 GRCh37 Chromosome 5, 138856007: 138856007
40 TMEM173 NM_198282.3(TMEM173): c.979C> A (p.Gln327Lys) single nucleotide variant Uncertain significance rs201015563 GRCh38 Chromosome 5, 139476422: 139476422
41 TMEM173 NM_198282.3(TMEM173): c.952G> T (p.Ala318Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 139476449: 139476449
42 TMEM173 NM_198282.3(TMEM173): c.952G> T (p.Ala318Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 138856034: 138856034
43 TMEM173 NM_198282.3(TMEM173): c.842G> A (p.Arg281Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 138857018: 138857018
44 TMEM173 NM_198282.3(TMEM173): c.842G> A (p.Arg281Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 139477433: 139477433

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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