SAVI
MCID: STN011
MIFTS: 27

Sting-Associated Vasculopathy with Onset in Infancy (SAVI)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Skin 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 72
Sting-Associated Vasculopathy, Infantile Onset 25

Classifications:



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KEGG 37 H01746
UMLS 72 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. The signs and symptoms of SAVI begin in the first few months of life, and most are related to problems with blood vessels (vasculopathy) and damage to the tissues that rely on these vessels for their blood supply. Affected infants develop areas of severely damaged skin (lesions), particularly on the face, ears, nose, fingers, and toes. These lesions begin as rashes and can progress to become wounds (ulcers) and dead tissue (necrosis). The skin problems, which worsen in cold weather, can lead to complications such as scarred ears, a hole in the tissue that separates the two nostrils (nasal septum perforation), or fingers or toes that require amputation. Individuals with SAVI also have a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. Affected individuals may also experience episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. In addition to problems affecting the skin, people with SAVI have recurrent low-grade fevers and swollen lymph nodes. They may also develop widespread lung damage (interstitial lung disease) that can lead to the formation of scar tissue in the lungs (pulmonary fibrosis) and difficulty breathing; these respiratory complications can become life-threatening. Rarely, muscle inflammation (myositis) and joint stiffness also occur.

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, skin and breast.

KEGG : 37
STING (stimulator of interferon genes)-associated basculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding the STING protein. It is considered that the mutations in the TMEM173 gene confer constitutive activation of STING and hypersensitivity to ligand stimulation, resulting in chronic activation of the STING-interferon pathway. Patients with SAVI have severe neonatal-onset small vessel vasculitis, which is expressed by telangiectatic ulcerative rashes in the limbs, earlobes, or nose, leading to microangiopathic thrombosis, vessel occlusion, and even risk of gangrene. Some SAVI patients may present chronic interstitial lung disease, which can be severe and lethal.

Wikipedia : 75 STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy... more...

Related Diseases for Sting-Associated Vasculopathy with Onset in Infancy

Diseases in the Sting-Associated Vasculopathy, Infantile-Onset family:

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:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 sting-associated vasculopathy, infantile-onset 12.5
2 singleton-merten syndrome 11.6
3 interstitial lung disease 10.3
4 pulmonary hypertension 10.2
5 exanthem 10.2
6 lung disease 10.2
7 vasculitis 10.2
8 autoimmune disease 10.1
9 migraine with or without aura 1 10.1
10 dowling-degos disease 1 10.1
11 helicobacter pylori infection 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 with Onset in Infancy:



Diseases related to Sting-Associated Vasculopathy with Onset in Infancy

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:

(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 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, Breast, Lymph Node, Heart, Liver, Pineal

Publications for Sting-Associated Vasculopathy with Onset in Infancy

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

(show top 50) (show all 236)
# Title Authors PMID Year
1
SAVI SCOUT as a Novel Localization and Surgical Navigation System for More Accurate Localization and Resection of Pulmonary Nodules. 38
31027475 2019
2
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome. 38
31144250 2019
3
Residential greenness and blood lipids in urban-dwelling adults: The 33 Communities Chinese Health Study. 38
30981931 2019
4
First Egyptian patient with STING-associated vasculopathy with onset in infancy. 38
30794020 2019
5
[Fraction of absorbed photosynthetically active radiation over summer maize canopy estimated by hyperspectral remote sensing under different drought conditions.] 38
31257775 2019
6
Biological activity of new flavonoids and phenolic compounds from Cirsium italicum (Savi) DC. 38
31219371 2019
7
Expression of a constitutively active human STING mutant in hematopoietic cells produces an Ifnar1-dependent vasculopathy in mice. 38
31221625 2019
8
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. 38
30783801 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
Associations of greenness with diabetes mellitus and glucose-homeostasis markers: The 33 Communities Chinese Health Study. 38
30545606 2019
13
STING palmitoylation as a therapeutic target. 38
30796349 2019
14
A comparison of satellite-based indices for hazard assessment of MSW open dumps using spatial analysis. 38
30537910 2019
15
A Human Gain-of-Function STING Mutation Causes Immunodeficiency and Gammaherpesvirus-Induced Pulmonary Fibrosis in Mice. 38
30463976 2019
16
Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice. 38
29800647 2019
17
[Discovering new antiretroviral compounds in "Big Data" chemical space of the SAVI library]. 38
30950810 2019
18
Response of plant production to growing/non-growing season asymmetric warming in an alpine meadow of the Northern Tibetan Plateau. 38
30296774 2019
19
TMEM173 variants and potential importance to human biology and disease. 38
29728611 2019
20
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
21
Satellite image fusion to detect changing surface permeability and emerging urban heat islands in a fast-growing city. 38
30601832 2019
22
What's new in autoinflammation? 38
30552566 2018
23
Greenspace seems protective of both high and low blood pressure among residents of an Alpine valley. 38
30273867 2018
24
Monitoring ecosystem reclamation recovery using optical remote sensing: Comparison with field measurements and eddy covariance. 38
29906733 2018
25
Daily Social Interactions and the Biological Stress Response: Are There Age Differences in Links Between Social Interactions and Alpha-Amylase? 38
29240901 2018
26
SAVI SCOUT® localization of breast lesions as a practical alternative to wires: Outcomes and suggestions for trouble-shooting. 38
30193186 2018
27
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
28
Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling. 38
30061387 2018
29
Utilization of multiple SAVI SCOUT surgical guidance system reflectors in the same breast: A single-institution feasibility study. 38
29251387 2018
30
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
31
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. 38
29155101 2018
32
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. 38
29649002 2018
33
Evolution of brachytherapy treatment planning to deterministic radiation transport for calculation of cardiac dose. 38
29609845 2018
34
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
35
[Retrieval of leaf area index of Phyllostachys praecox forest based on MODIS reflectance time series data.] 38
30039679 2018
36
Safe Birth and Cultural Safety in southern Mexico: study protocol for a randomised controlled trial. 38
29973241 2018
37
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
38
Applicability of Downscaling Land Surface Temperature by Using Normalized Difference Sand Index. 38
29934513 2018
39
Study on the dose modification factor of strut adjusted volume implant (SAVI) with a 169Yb source using MCNP4C. 38
29756165 2018
40
Development of a Validated Interferon Score Using NanoString Technology. 38
29638206 2018
41
[Stimulator of interferon genes-associated vasculopathy with onset in infancy: first case report in China]. 38
29518827 2018
42
So Close and Yet So Irritating: Negative Relations and Implications for Well-being by Age and Closeness. 38
29596623 2018
43
Outcomes by molecular subtype after accelerated partial breast irradiation using single-entry catheters. 38
29146102 2018
44
[Advances in the studies on topographic effects of vegetation indices.] 38
29692084 2018
45
Real-world experience using the ACURATE neo prosthesis: 30-day outcomes of 1,000 patients enrolled in the SAVI TF registry. 38
29131801 2018
46
Phaeophleospora vochysiae Savi & Glienke sp. nov. Isolated from Vochysia divergens Found in the Pantanal, Brazil, Produces Bioactive Secondary Metabolites. 38
29449610 2018
47
Efficiency of using the day-of-implant CT for planning of SAVI APBI. 38
28869144 2018
48
Vasculitis in Systemic Autoinflammatory Diseases. 38
30560109 2018
49
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes. 38
29032440 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 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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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