SAVI
MCID: STN012
MIFTS: 42

Sting-Associated Vasculopathy, Infantile-Onset (SAVI)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory 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 73 29 6 39 71
Savi 57 58 73
Sting-Associated Vasculopathy with Onset in Infancy 58

Characteristics:

Orphanet epidemiological data:

58
sting-associated vasculopathy with onset in infancy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
sting-associated vasculopathy, infantile-onset:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


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) (Updated 05-Mar-2021)

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 STING1 (Stimulator Of Interferon Response CGAMP Interactor 1). Affiliated tissues include breast, lung and skeletal muscle, and related phenotypes are myalgia and failure to thrive

UniProtKB/Swiss-Prot : 73 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

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:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 myalgia 31 occasional (7.5%) HP:0003326
2 failure to thrive 31 very rare (1%) HP:0001508
3 joint stiffness 31 very rare (1%) HP:0001387
4 anemia 31 very rare (1%) HP:0001903
5 skeletal muscle atrophy 31 very rare (1%) HP:0003202
6 pulmonary fibrosis 31 very rare (1%) HP:0002206
7 arthralgia 31 very rare (1%) HP:0002829
8 lymphopenia 31 very rare (1%) HP:0001888
9 cutis marmorata 31 very rare (1%) HP:0000965
10 sparse hair 31 very rare (1%) HP:0008070
11 nail dystrophy 31 very rare (1%) HP:0008404
12 tachypnea 31 very rare (1%) HP:0002789
13 elevated c-reactive protein level 31 very rare (1%) HP:0011227
14 myositis 31 very rare (1%) HP:0100614
15 elevated erythrocyte sedimentation rate 31 very rare (1%) HP:0003565
16 recurrent fever 31 very rare (1%) HP:0001954
17 raynaud phenomenon 31 very rare (1%) HP:0030880
18 telangiectasia 31 very rare (1%) HP:0001009
19 follicular hyperplasia 31 very rare (1%) HP:0002729
20 increased circulating iga level 31 very rare (1%) HP:0003261
21 antiphospholipid antibody positivity 31 very rare (1%) HP:0003613
22 thrombocytosis 31 very rare (1%) HP:0001894
23 rheumatoid factor positive 31 very rare (1%) HP:0002923
24 antinuclear antibody positivity 31 very rare (1%) HP:0003493
25 increased circulating igg level 31 very rare (1%) HP:0003237
26 malar rash 31 very rare (1%) HP:0025300
27 cytoplasmic antineutrophil antibody positivity 31 very rare (1%) HP:0032230
28 nailfold capillary tortuosity 31 very rare (1%) HP:0033250
29 paratracheal lymphadenopathy 31 very rare (1%) HP:0033280
30 recurrent respiratory infections 31 HP:0002205
31 erythema 31 HP:0010783
32 pustule 31 HP:0200039

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor growth

Metabolic Features:
fever

Skin Nails Hair Skin:
erythema
telangiectasia
malar rash
livedo reticularis
ulceration
more
Skin Nails Hair Nails:
nail dystrophy
nailfold capillary tortuosity
nail loss

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 (Updated 05-Mar-2021)

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


fever, onychomadesis

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2/3, Multicenter, Open-Label Study to Evaluate the Efficacy and Safety of Baricitinib in Adult and Pediatric Japanese Patients With NNS/CANDLE, SAVI, and AGS Recruiting NCT04517253 Phase 2, Phase 3 Baricitinib
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 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
5 Drain Placement for Seroma Prevention After Mammosite/SAVI Catheter Removal Completed NCT02390661
6 Symetis ACURATE Neo™ Valve Implantation Using TransFemoral Access: SAVI TF Registry Completed NCT02306226
7 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
8 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
9 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

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 STING1

Anatomical Context for Sting-Associated Vasculopathy, Infantile-Onset

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

40
Breast, Lung, Skeletal Muscle, T Cells, B Cells, Liver, Lymph Node

Publications for Sting-Associated Vasculopathy, Infantile-Onset

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

(show top 50) (show all 305)
# Title Authors PMID Year
1
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 6 57
25401470 2014
2
Activated STING in a vascular and pulmonary syndrome. 57 61
25029335 2014
3
How does vulnerability to COVID-19 vary between communities in England? Developing a Small Area Vulnerability Index (SAVI). 61
33542030 2021
4
Functional Asplenia and Specific Polysaccharide Antibody Deficiency in a Girl with SAVI. 61
33230617 2021
5
Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy. 61
33544357 2021
6
Temporal record and spatial distribution of fire foci in State of Minas Gerais, Brazil. 61
33349512 2021
7
STING-Mediated Lung Inflammation and Beyond. 61
33532887 2021
8
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients. 61
33217613 2021
9
Changes detected in the extent of surface mining and reclamation using multitemporal Landsat imagery: a case study of Jiu Valley, Romania. 61
33398530 2021
10
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies. 61
33411153 2021
11
Age Moderates Perceived COVID-19 Disruption on Well-Being. 61
32808660 2021
12
STING-associated vasculopathy with onset in infancy: a familial case series report and literature review. 61
33569478 2021
13
Remote sensing metrics to assess exposure to residential greenness in epidemiological studies: A population case study from the Eastern Mediterranean. 61
33276312 2021
14
Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI). 61
32974768 2021
15
Profiling and analysis of chemical compounds using pointwise mutual information. 61
33423694 2021
16
Experience, vulnerability, or overload? Emotional job demands as moderator in trajectories of emotional well-being and job satisfaction across the working lifespan. 61
33444036 2021
17
Niemann–Pick disease: own observations and new therapeutic options 61
33423026 2021
18
Greenness surrounding schools and adiposity in children and adolescents: Findings from a national population-based study in China. 61
33027626 2021
19
The Impact of Terrestrial Oil Pollution on Parasitoid Wasps Associated With Vachellia (Fabales: Fabaceae) Trees in a Desert Ecosystem, Israel. 61
33140833 2020
20
Assessment of irrigation expansion and implications for water resources by using RS and GIS techniques in the Lake Tana Basin of Ethiopia. 61
33349892 2020
21
Node-Positive Patients Treated with Neoadjuvant Chemotherapy Can Be Spared Axillary Lymph Node Dissection with Wireless Non-Radioactive Localizers. 61
32740737 2020
22
A Case of Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis. 61
33162473 2020
23
A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI). 61
32673614 2020
24
SAVI, in silico generation of billions of easily synthesizable compounds through expert-system type rules. 61
33177514 2020
25
Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI). 61
32860170 2020
26
Greenness surrounding schools is associated with lower risk of asthma in schoolchildren. 61
32702595 2020
27
Does Chronic Stress Moderate Age Differences in Emotional Well-being? Testing Predictions of Strength and Vulnerability Integration (SAVI). 61
33057679 2020
28
Intraoperative Localization Using an Implanted Radar Reflector Facilitates Resection of Non-Palpable Trunk and Extremity Sarcoma. 61
33073344 2020
29
Evaluation of Vegetation Index-Based Curve Fitting Models for Accurate Classification of Salt Marsh Vegetation Using Sentinel-2 Time-Series. 61
32998319 2020
30
Comparison of Multiple Wire, Radioactive Seed, and Savi Scout® Radar Localizations for Management of Surgical Breast Disease. 61
32989660 2020
31
STING Mediates Lupus via the Activation of Conventional Dendritic Cell Maturation and Plasmacytoid Dendritic Cell Differentiation. 61
33083760 2020
32
Associations between residential greenness and blood lipids in Chinese Uyghur adults. 61
32603970 2020
33
A new pyran derivative analog from the whole plant of Cirsium italicum. 61
32924587 2020
34
Seed Predation on Oil-Polluted and Unpolluted Vachellia (Acacia) Trees in a Hyper-Arid Desert Ecosystem. 61
32998405 2020
35
Integration of high-resolution optical and SAR satellite remote sensing datasets for aboveground biomass estimation in subtropical pine forest, Pakistan. 61
32808098 2020
36
Savi Scout Radar Localization Versus Wire Localization for Breast Biopsy Regarding Positive Margin, Complication, and Reoperation Rates. 61
32721172 2020
37
Using Landsat satellites to assess the impact of check dams built across erosive gullies on vegetation rehabilitation. 61
32388364 2020
38
The natural resources potential assessing aimed at territorial planning using time-varying space data of vegetation index and LST. 61
32648051 2020
39
Adapting CHMTRN (CHeMistry TRaNslator) for a New Use. 61
32539385 2020
40
Reflector-guided Localization of Non-palpable Breast Lesions: The First Reported European Evaluation of the SAVI SCOUT® System. 61
32620632 2020
41
Savi Scout® Radar Localisation of Non-palpable Breast Lesions: Systematic Review and Pooled Analysis of 842 Cases. 61
32620602 2020
42
Type I interferon-independent T cell impairment in a Tmem173 N153S/WT mouse model of STING associated vasculopathy with onset in infancy (SAVI). 61
32470544 2020
43
A comparison of two non-radioactive alternatives to wire for the localization of non-palpable breast cancers. 61
32451679 2020
44
Disrespect at Work, Distress at Home: A Longitudinal Investigation of Incivility Spillover and Crossover Among Older Workers. 61
32685181 2020
45
Estimating reed loss caused by Locusta migratoria manilensis using UAV-based hyperspectral data. 61
32120114 2020
46
STING Gain-of-Function Disrupts Lymph Node Organogenesis and Innate Lymphoid Cell Development in Mice. 61
32553167 2020
47
Permanent Pacemaker Lead Insertion Connected to an External Pacemaker Generator for Temporary Pacing After Transcatheter Aortic Valve Implantation. 61
32171678 2020
48
Diversity of repetitive sequences within compact genomes of Phaseolus L. beans and allied genera Cajanus L. and Vigna Savi. 61
31734754 2020
49
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype. 61
32398023 2020
50
Dosimetric Limitations in Treating Breast Cancer with Accelerated Partial Breast Irradiation Using Strut Adjusted Volume Implant (SAVI). 61
32377476 2020

Variations for Sting-Associated Vasculopathy, Infantile-Onset

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

6 (show top 50) (show all 75)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STING1 NM_198282.4(STING1):c.842G>A (p.Arg281Gln) SNV Pathogenic 568703 rs1561482476 5:138857018-138857018 5:139477433-139477433
2 STING1 NM_198282.4(STING1):c.461A>G (p.Asn154Ser) SNV Pathogenic 143861 rs587777609 5:138860434-138860434 5:139480849-139480849
3 STING1 NM_198282.4(STING1):c.463G>A (p.Val155Met) SNV Pathogenic 143862 rs587777610 5:138860432-138860432 5:139480847-139480847
4 STING1 NM_198282.4(STING1):c.439G>C (p.Val147Leu) SNV Pathogenic 143863 rs587777611 5:138860456-138860456 5:139480871-139480871
5 STING1 NM_198282.4(STING1):c.548A>G (p.Asn183Ser) SNV Uncertain significance 475207 rs201277595 5:138858066-138858066 5:139478481-139478481
6 STING1 NM_198282.4(STING1):c.575G>T (p.Gly192Val) SNV Uncertain significance 475208 rs201096097 5:138858039-138858039 5:139478454-139478454
7 STING1 NM_198282.4(STING1):c.532C>T (p.Arg178Trp) SNV Uncertain significance 475206 rs1240603758 5:138858082-138858082 5:139478497-139478497
8 STING1 NM_198282.4(STING1):c.757C>T (p.Arg253Trp) SNV Uncertain significance 541978 rs199795457 5:138857857-138857857 5:139478272-139478272
9 STING1 NM_198282.4(STING1):c.590G>A (p.Arg197Gln) SNV Uncertain significance 541979 rs760564156 5:138858024-138858024 5:139478439-139478439
10 STING1 NM_198282.4(STING1):c.929G>A (p.Arg310His) SNV Uncertain significance 541980 rs144683867 5:138856931-138856931 5:139477346-139477346
11 STING1 NM_198282.4(STING1):c.979C>A (p.Gln327Lys) SNV Uncertain significance 570027 rs201015563 5:138856007-138856007 5:139476422-139476422
12 STING1 NM_198282.4(STING1):c.1123C>T (p.Arg375Cys) SNV Uncertain significance 579652 rs144606267 5:138855863-138855863 5:139476278-139476278
13 STING1 NM_198282.4(STING1):c.952G>T (p.Ala318Ser) SNV Uncertain significance 581686 rs1561482019 5:138856034-138856034 5:139476449-139476449
14 STING1 NM_198282.4(STING1):c.1025del (p.Thr342fs) Deletion Uncertain significance 639028 rs1581447916 5:138855961-138855961 5:139476376-139476376
15 STING1 NM_198282.4(STING1):c.7C>T (p.His3Tyr) SNV Uncertain significance 639483 rs1490896074 5:138861283-138861283 5:139481698-139481698
16 STING1 NM_198282.4(STING1):c.1076A>G (p.Gln359Arg) SNV Uncertain significance 641434 rs141830680 5:138855910-138855910 5:139476325-139476325
17 STING1 NM_198282.4(STING1):c.602T>C (p.Leu201Pro) SNV Uncertain significance 643076 rs1581450494 5:138858012-138858012 5:139478427-139478427
18 STING1 NM_198282.4(STING1):c.32C>T (p.Pro11Leu) SNV Uncertain significance 646537 rs146423746 5:138861258-138861258 5:139481673-139481673
19 STING1 NM_198282.4(STING1):c.395T>G (p.Ile132Ser) SNV Uncertain significance 649502 rs1346414429 5:138860760-138860760 5:139481175-139481175
20 STING1 NM_198282.4(STING1):c.637A>C (p.Ser213Arg) SNV Uncertain significance 650270 rs1342489613 5:138857977-138857977 5:139478392-139478392
21 STING1 NM_198282.4(STING1):c.44dup (p.His16fs) Duplication Uncertain significance 654580 rs1581455186 5:138861245-138861246 5:139481660-139481661
22 STING1 NM_198282.4(STING1):c.49G>A (p.Gly17Arg) SNV Uncertain significance 654765 rs759944012 5:138861241-138861241 5:139481656-139481656
23 STING1 NM_198282.4(STING1):c.1000C>T (p.Arg334Trp) SNV Uncertain significance 657875 rs1197819878 5:138855986-138855986 5:139476401-139476401
24 STING1 NM_198282.4(STING1):c.761C>T (p.Ala254Val) SNV Uncertain significance 658704 rs774690247 5:138857099-138857099 5:139477514-139477514
25 STING1 NM_198282.4(STING1):c.26C>T (p.Ser9Phe) SNV Uncertain significance 658773 rs888652949 5:138861264-138861264 5:139481679-139481679
26 STING1 NM_198282.4(STING1):c.398T>A (p.Leu133His) SNV Uncertain significance 660314 rs756483516 5:138860757-138860757 5:139481172-139481172
27 STING1 NM_198282.4(STING1):c.281G>A (p.Arg94His) SNV Uncertain significance 661503 rs780666926 5:138860874-138860874 5:139481289-139481289
28 STING1 NC_000005.10:g.(?_139476241)_(139481724_?)dup Duplication Uncertain significance 833225 5:138855826-138861309
29 STING1 NM_198282.4(STING1):c.92T>C (p.Val31Ala) SNV Uncertain significance 834249 5:138861198-138861198 5:139481613-139481613
30 STING1 NM_198282.4(STING1):c.344C>T (p.Pro115Leu) SNV Uncertain significance 839783 5:138860811-138860811 5:139481226-139481226
31 STING1 NM_198282.4(STING1):c.841C>T (p.Arg281Trp) SNV Uncertain significance 839824 5:138857019-138857019 5:139477434-139477434
32 STING1 NM_198282.4(STING1):c.1001G>A (p.Arg334Gln) SNV Uncertain significance 840257 5:138855985-138855985 5:139476400-139476400
33 STING1 NM_001301738.2(STING1):c.759+755_759+759del Deletion Uncertain significance 842085 5:138857096-138857100 5:139477511-139477515
34 STING1 NM_198282.4(STING1):c.289G>A (p.Ala97Thr) SNV Uncertain significance 624065 rs181566154 5:138860866-138860866 5:139481281-139481281
35 STING1 NM_198282.4(STING1):c.688G>A (p.Gly230Ser) SNV Uncertain significance 850236 5:138857926-138857926 5:139478341-139478341
36 STING1 NM_198282.4(STING1):c.493A>C (p.Ile165Leu) SNV Uncertain significance 850268 5:138860402-138860402 5:139480817-139480817
37 STING1 NM_198282.4(STING1):c.134G>A (p.Arg45Gln) SNV Uncertain significance 851661 5:138861156-138861156 5:139481571-139481571
38 STING1 NM_198282.4(STING1):c.668A>G (p.Asp223Gly) SNV Uncertain significance 852656 5:138857946-138857946 5:139478361-139478361
39 STING1 NM_198282.4(STING1):c.1127C>T (p.Thr376Met) SNV Uncertain significance 853954 5:138855859-138855859 5:139476274-139476274
40 STING1 NM_198282.4(STING1):c.1003C>A (p.Gln335Lys) SNV Uncertain significance 857410 5:138855983-138855983 5:139476398-139476398
41 STING1 NM_198282.4(STING1):c.212_213delinsAA (p.Arg71Gln) Indel Uncertain significance 934934 5:138861077-138861078 5:139481492-139481493
42 STING1 NM_198282.4(STING1):c.493A>G (p.Ile165Val) SNV Uncertain significance 935539 5:138860402-138860402 5:139480817-139480817
43 STING1 NM_198282.4(STING1):c.784G>A (p.Ala262Thr) SNV Uncertain significance 937596 5:138857076-138857076 5:139477491-139477491
44 STING1 NM_198282.4(STING1):c.233G>A (p.Arg78Gln) SNV Uncertain significance 940285 5:138860922-138860922 5:139481337-139481337
45 STING1 NM_198282.4(STING1):c.142G>T (p.Val48Leu) SNV Uncertain significance 944755 5:138861148-138861148 5:139481563-139481563
46 STING1 NM_198282.4(STING1):c.1129G>T (p.Asp377Tyr) SNV Uncertain significance 945312 5:138855857-138855857 5:139476272-139476272
47 STING1 NM_198282.4(STING1):c.4C>T (p.Pro2Ser) SNV Uncertain significance 948262 5:138861286-138861286 5:139481701-139481701
48 STING1 NM_198282.4(STING1):c.758G>A (p.Arg253Gln) SNV Uncertain significance 951442 5:138857856-138857856 5:139478271-139478271
49 STING1 NM_198282.4(STING1):c.211C>A (p.Arg71Ser) SNV Uncertain significance 953790 5:138861079-138861079 5:139481494-139481494
50 STING1 NM_198282.4(STING1):c.589C>T (p.Arg197Trp) SNV Uncertain significance 955609 5:138858025-138858025 5:139478440-139478440

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

73
# Symbol AA change Variation ID SNP ID
1 STING1 p.Val147Leu VAR_071878 rs587777611
2 STING1 p.Asn154Ser VAR_071879 rs587777609
3 STING1 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

Sources for Sting-Associated Vasculopathy, Infantile-Onset

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57 OMIM® (Updated 05-Mar-2021)
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72 UMLS via Orphanet
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