SAVI
MCID: STN011
MIFTS: 28

Sting-Associated Vasculopathy with Onset in Infancy (SAVI)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune 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 12 52 25 36
Savi 12 52 25
Sting-Associated Vasculopathy, Infantile-Onset 71
Sting-Associated Vasculopathy, Infantile Onset 25

Classifications:



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Disease Ontology 12 DOID:0111457
KEGG 36 H01746
UMLS 71 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.

Disease Ontology : 12 An autoimmune disease of the cardiovascular system characterized by onset in infancy of 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 that has material basis in heterozygous gain of function mutation in TMEM173 on chromosome 5q31.

KEGG : 36 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 : 74 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 27)
# Related Disease Score Top Affiliating Genes
1 sting-associated vasculopathy, infantile-onset 12.5
2 singleton-merten syndrome 11.6
3 interstitial lung disease 10.5
4 lung disease 10.4
5 exanthem 10.3
6 vasculitis 10.3
7 gastroesophageal reflux 10.2
8 myositis 10.2
9 systemic lupus erythematosus 2 10.2
10 pulmonary hypertension 10.2
11 focal segmental glomerulosclerosis 10.2
12 diffuse alveolar hemorrhage 10.2
13 autoimmune disease 10.1
14 migraine with or without aura 1 10.1
15 dowling-degos disease 1 10.1
16 helicobacter pylori infection 10.1
17 respiratory failure 10.1
18 diphtheria 10.1
19 telangiectasis 10.1
20 cholera 10.1
21 idiopathic interstitial pneumonia 10.1
22 fibrosarcoma 10.1
23 breast disease 10.1
24 pulmonary fibrosis 10.1
25 lymphopenia 10.1
26 lupus erythematosus 10.1
27 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:

40
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 252)
# Title Authors PMID Year
1
Association between residential greenness and metabolic syndrome in Chinese adults. 61
31837524 2020
2
So Close and Yet So Irritating: Negative Relations and Implications for Well-being by Age and Closeness. 61
29596623 2020
3
Greenness around schools associated with lower risk of hypertension among children: Findings from the Seven Northeastern Cities Study in China. 61
31672364 2020
4
Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age. 61
31969166 2020
5
Inter-fractional variations in the dosimetric parameters of accelerated partial breast irradiation using a strut-adjusted volume implant. 61
31665490 2020
6
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. 61
31874111 2019
7
What's new in autoinflammation? 61
30552566 2019
8
(Q)SAR Models of HIV-1 Protein Inhibition by Drug-Like Compounds. 61
31881687 2019
9
Associations of Residential Greenness with Diabetes Mellitus in Chinese Uyghur Adults. 61
31888136 2019
10
Maize Crop Coefficient Estimated from UAV-Measured Multispectral Vegetation Indices. 61
31795309 2019
11
The GA-BPNN-Based Evaluation of Cultivated Land Quality in the PSR Framework Using Gaofen-1 Satellite Data. 61
31771107 2019
12
STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib. 61
31705453 2019
13
Meta-analysis of Temporal and Surgical Risk Dependent Associations With Outcomes After Transcatheter Versus Surgical Aortic Valve Implantation. 61
31521258 2019
14
Diversity of repetitive sequences within compact genomes of Phaseolus L. beans and allied genera Cajanus L. and Vigna Savi. 61
31734754 2019
15
Baricitinib experience on STING-associated vasculopathy with onset in infancy: A representative case from Turkey. 61
31626957 2019
16
APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI). 61
31601430 2019
17
Spatial and temporal variation of the vegetation of the semiarid Puna in a pastoral system in the Pozuelos Biosphere Reserve. 61
31522254 2019
18
Comparison of wire localization, radioactive seed, and Savi scout® radar for management of surgical breast disease. 61
31448530 2019
19
SAVI SCOUT as a Novel Localization and Surgical Navigation System for More Accurate Localization and Resection of Pulmonary Nodules. 61
31027475 2019
20
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome. 61
31144250 2019
21
Residential greenness and blood lipids in urban-dwelling adults: The 33 Communities Chinese Health Study. 61
30981931 2019
22
First Egyptian patient with STING-associated vasculopathy with onset in infancy. 61
30794020 2019
23
[Fraction of absorbed photosynthetically active radiation over summer maize canopy estimated by hyperspectral remote sensing under different drought conditions.] 61
31257775 2019
24
Biological activity of new flavonoids and phenolic compounds from Cirsium italicum (Savi) DC. 61
31219371 2019
25
Expression of a constitutively active human STING mutant in hematopoietic cells produces an Ifnar1-dependent vasculopathy in mice. 61
31221625 2019
26
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. 61
30783801 2019
27
Community greenness, blood pressure, and hypertension in urban dwellers: The 33 Communities Chinese Health Study. 61
30878868 2019
28
Hierarchy of clinical manifestations in SAVI N153S and V154M mouse models. 61
30944222 2019
29
Trajectories of Perceived Workplace Age Discrimination and Long-Term Associations With Mental, Self-Rated, and Occupational Health. 61
28977664 2019
30
Associations of greenness with diabetes mellitus and glucose-homeostasis markers: The 33 Communities Chinese Health Study. 61
30545606 2019
31
STING palmitoylation as a therapeutic target. 61
30796349 2019
32
A comparison of satellite-based indices for hazard assessment of MSW open dumps using spatial analysis. 61
30537910 2019
33
Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice. 61
29800647 2019
34
A Human Gain-of-Function STING Mutation Causes Immunodeficiency and Gammaherpesvirus-Induced Pulmonary Fibrosis in Mice. 61
30463976 2019
35
[Discovering new antiretroviral compounds in "Big Data" chemical space of the SAVI library]. 61
30950810 2019
36
Response of plant production to growing/non-growing season asymmetric warming in an alpine meadow of the Northern Tibetan Plateau. 61
30296774 2019
37
TMEM173 variants and potential importance to human biology and disease. 61
29728611 2019
38
Prospective Comparison of Toxicity and Cosmetic Outcome After Accelerated Partial Breast Irradiation With Conformal External Beam Radiotherapy or Single-Entry Multilumen Intracavitary Brachytherapy. 61
30125673 2019
39
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles. 61
31866997 2019
40
Satellite image fusion to detect changing surface permeability and emerging urban heat islands in a fast-growing city. 61
30601832 2019
41
Greenspace seems protective of both high and low blood pressure among residents of an Alpine valley. 61
30273867 2018
42
Monitoring ecosystem reclamation recovery using optical remote sensing: Comparison with field measurements and eddy covariance. 61
29906733 2018
43
Daily Social Interactions and the Biological Stress Response: Are There Age Differences in Links Between Social Interactions and Alpha-Amylase? 61
29240901 2018
44
SAVI SCOUT® localization of breast lesions as a practical alternative to wires: Outcomes and suggestions for trouble-shooting. 61
30193186 2018
45
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients. 61
29134648 2018
46
Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling. 61
30061387 2018
47
Evolution of brachytherapy treatment planning to deterministic radiation transport for calculation of cardiac dose. 61
29609845 2018
48
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. 61
29649002 2018
49
[Retrieval of leaf area index of Phyllostachys praecox forest based on MODIS reflectance time series data.] 61
30039679 2018
50
Safe Birth and Cultural Safety in southern Mexico: study protocol for a randomised controlled trial. 61
29973241 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:

36
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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