MCID: THR035
MIFTS: 46

Thrombasthenia

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Thrombasthenia

MalaCards integrated aliases for Thrombasthenia:

Name: Thrombasthenia 49 69

Classifications:



Summaries for Thrombasthenia

MalaCards based summary : Thrombasthenia is related to bleeding disorder, platelet-type, 16 and glanzmann thrombasthenia. An important gene associated with Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and whole blood, and related phenotypes are cardiovascular system and cellular

Related Diseases for Thrombasthenia

Diseases related to Thrombasthenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 32.8 ITGA2B ITGB3
2 glanzmann thrombasthenia 32.4 F2 F3 GP1BA GP9 ITGA2 ITGA2B
3 thrombocytopenia due to platelet alloimmunization 30.1 ITGA2 ITGA2B SELP
4 bernard-soulier syndrome 29.9 F2 GP1BA GP9 ITGA2 ITGA2B ITGB3
5 prothrombin deficiency, congenital 29.8 F2 F5
6 von willebrand's disease 29.7 F2 F3 F5 GP1BA SELP
7 prothrombin deficiency 29.6 F2 F3 F5
8 purpura 29.6 F2 F3 GP1BA ITGA2B ITGB3
9 thrombophilia due to thrombin defect 29.5 F2 F3 F5 MTHFR
10 thrombocytopenia 29.3 F3 GP1BA GP9 ITGA2 ITGA2B ITGB3
11 thrombosis 29.2 F2 F3 F5 GP1BA MTHFR SELP
12 blood platelet disease 29.0 F2 F3 GP1BA GP9 ITGA2B ITGB3
13 bleeding disorder, platelet-type, 17 11.7
14 schlegelberger grote syndrome 11.2
15 congenital disorder of glycosylation, type iic 10.9
16 leukocyte adhesion deficiency, type i 10.9
17 leukocyte adhesion deficiency, type iii 10.9
18 autoimmune disease of blood 10.5 ITGA2 ITGA2B ITGB3
19 paracetamol poisoning 10.4 F2 F5
20 autosomal dominant macrothrombocytopenia 10.4 GP1BA ITGA2B ITGB3
21 chancroid 10.4 CD36 VTN
22 mesenteric vascular occlusion 10.4 F2 MTHFR
23 cerebral falx meningioma 10.4 F2 F3
24 blood protein disease 10.4 F2 MTHFR
25 sticky platelet syndrome 10.3 F5 ITGB3
26 infective endocarditis 10.3 F2 GP1BA ITGB3
27 intestinal impaction 10.3 F2 F3
28 fournier gangrene 10.3 F2 F3
29 inferior vena cava interruption 10.3 F5 MTHFR
30 buerger disease 10.3 F2 ITGA2 MTHFR
31 amaurosis fugax 10.3 F5 MTHFR
32 leech infestation 10.3 F2 F3
33 heparin-induced thrombocytopenia 10.3 F3 SELP
34 hemoglobin e disease 10.3 F2 F5
35 fetal and neonatal alloimmune thrombocytopenia 10.3 GP1BA ITGA2 ITGA2B ITGB3
36 von willebrand disease, type 1 10.3 F2 F3
37 ischemic neuropathy 10.2 F2 MTHFR
38 carotid artery thrombosis 10.2 F3 ITGA2B SELP
39 giant hemangioma 10.2 F2 F3
40 acquired hemophilia a 10.2 F3 F5
41 intermediate coronary syndrome 10.2 F3 ITGA2B SELP
42 factor vii deficiency 10.2 EGF F2 F3
43 hemophilia b 10.2 EGF F2 F3
44 thrombocytopenic purpura, autoimmune 10.2 GP1BA ITGA2B ITGB3 SELP
45 spinal cord infarction 10.2 F2 F5 MTHFR
46 livedoid vasculopathy 10.2 F2 F5 MTHFR
47 immune system disease 10.2 F2 F3 ITGA2B
48 coronary thrombosis 10.2 F3 GP1BA ITGB3
49 cryptogenic cirrhosis 10.2 F2 F5 MTHFR
50 acquired hemophilia 10.2 F3 F5

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to Thrombasthenia

Symptoms & Phenotypes for Thrombasthenia

MGI Mouse Phenotypes related to Thrombasthenia:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 HPSE F2 ITGB3 SELP ITGA2B F3
2 cellular MP:0005384 10.22 HPSE ITGB3 ITGA2 SELP ITGA2B F3
3 hematopoietic system MP:0005397 10.22 ITGB3 ITGA2 SELP ITGA2B F3 CD36
4 homeostasis/metabolism MP:0005376 10.18 F2 ITGB3 ITGA2 SELP ITGA2B F3
5 growth/size/body region MP:0005378 10.17 F2 ITGB3 SELP F3 MTHFR CD36
6 immune system MP:0005387 10.02 HPSE PTK2 F2 ITGB3 SELP F3
7 digestive/alimentary MP:0005381 10 PTK2 F2 ITGB3 CD36 THRA EGF
8 integument MP:0010771 10 ITGB3 ITGA2 SELP F3 MTHFR THRA
9 liver/biliary system MP:0005370 9.7 ITGB3 SELP CD36 PSMG1 THRA F5
10 nervous system MP:0003631 9.65 PTK2 F2 ITGB3 SELP MTHFR F3
11 normal MP:0002873 9.23 PTK2 F2 ITGA2 ITGB3 F3 PSMG1

Drugs & Therapeutics for Thrombasthenia

Drugs for Thrombasthenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
4 Alkylating Agents Phase 2
5 Vidarabine Phosphate Phase 2
6 Anti-Infective Agents Phase 2
7 Immunosuppressive Agents Phase 2,Phase 1
8 Antimetabolites Phase 2
9 Antimetabolites, Antineoplastic Phase 2
10 Antirheumatic Agents Phase 2,Phase 1
11 Antiviral Agents Phase 2
12
Mycophenolic acid Approved Phase 1 24280-93-1 446541
13
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
14
Abatacept Approved Phase 1 332348-12-6 10237
15 Cyclosporins Phase 1
16
Iron Approved 7439-89-6 23925
17
Busulfan Approved, Investigational 55-98-1 2478
18
alemtuzumab Approved, Investigational 216503-57-0
19 Hemostatics
20 Antifibrinolytic Agents
21 Antilymphocyte Serum
22 Dermatologic Agents

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male Subjects Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
3 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
4 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
5 Observational Registry of the Treatment of Glanzmann's Thrombasthenia Completed NCT01476423 activated recombinant human factor VII
6 A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
7 Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in Germany Completed NCT00697320 eptacog alfa (activated)
8 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
9 Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets Recruiting NCT01957345
10 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
11 Prospective, Non-interventional Study to Evaluate Immunogenicity of AryoSeven Enrolling by invitation NCT03372993
12 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Thrombasthenia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Thrombasthenia

Anatomical Context for Thrombasthenia

MalaCards organs/tissues related to Thrombasthenia:

38
Bone, Bone Marrow, Whole Blood, Monocytes, Testes, Myeloid, Endothelial

Publications for Thrombasthenia

Articles related to Thrombasthenia:

(show top 50) (show all 578)
# Title Authors Year
1
In silico analysis of structural modifications in and around the integrin I+IIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia. ( 29385657 )
2018
2
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations. ( 29439184 )
2018
3
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. ( 29125375 )
2018
4
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms. ( 28948953 )
2017
5
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
6
Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient. ( 29185819 )
2017
7
Perioperative management of a patient with glanzmann's thrombasthenia for mitral valve repair under cardiopulmonary bypass. ( 28994690 )
2017
8
Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. ( 28888044 )
2017
9
Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann's Thrombasthenia. ( 28670433 )
2017
10
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
11
Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations. ( 29084015 )
2017
12
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
13
Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann's Thrombasthenia. ( 28161816 )
2017
14
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
15
Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples. ( 28299211 )
2017
16
Anticoagulant therapy in patients with Glanzmann's Thrombasthenia: Is it possible? ( 28940852 )
2017
17
A rare case of bleeding disorder: Glanzmann's thrombasthenia. ( 29063905 )
2017
18
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. ( 29152293 )
2017
19
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2017
20
Independent adjudicator assessments of platelet refractoriness and rFVIIa efficacy in bleeding episodes and surgeries from the multinational Glanzmann's thrombasthenia registry. ( 28370369 )
2017
21
Recognition and management of platelet-refractory bleeding in patients with Glanzmann's thrombasthenia and other severe platelet function disorders. ( 28435309 )
2017
22
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. ( 27469266 )
2016
23
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ( 27696190 )
2016
24
Glanzmann thrombasthenia in a child manifesting after dengue infection. ( 28050106 )
2016
25
Glanzmann Thrombasthenia: A Clinicopathological Profile. ( 27539755 )
2016
26
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. ( 28096593 )
2016
27
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. ( 26764135 )
2016
28
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
29
Endometriosis and GlanzmannA9s thrombasthenia. ( 27655515 )
2016
30
No genetic abnormalities identified in I+2IIb and I^3: phenotype overcomes genotype in Glanzmann thrombasthenia. ( 27808476 )
2016
31
Is there a role for antiangiogenic therapy, bevacizumab, in the treatment of recurrent digestive bleeding due to angiodysplasia in Glanzmann's thrombasthenia? ( 27352634 )
2016
32
New Insights Into the Treatment of Glanzmann Thrombasthenia. ( 26968829 )
2016
33
Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann's Thrombasthenia with Chronic Gingival Bleed: Case Report. ( 26894187 )
2016
34
Immunisation against I+IIbI^3 and I+vI^3 in a type 1 variant of Glanzmann's thrombasthenia caused by a missense mutation Gly540Asp on I^3. ( 27098940 )
2016
35
Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes. ( 27829878 )
2016
36
Surgical procedures in patients with Glanzmann's thrombasthenia: case series and literature review. ( 27273143 )
2016
37
Efficacy of tranexamic acid for the prevention of bleeding in patients with von Willebrand disease and Glanzmann thrombasthenia: a controlled, before and after trial. ( 27478149 )
2016
38
Perioperative ROTEM and ROTEMplatelet monitoring in a case of Glanzmann's thrombasthenia. ( 26825624 )
2016
39
Simultaneous occurrence of intussusception and duodenal haematoma in a patient with Glanzmann's thrombasthenia. ( 28051053 )
2016
40
Long-term therapy with bevacizumab in a patient with Glanzmann's thrombasthenia and recurrent digestive bleeding due to gastrointestinal angiodysplastic lesions. ( 25646919 )
2015
41
Association of Factor V Secretion with Protein Kinase B Signaling in Platelets from Horses with Atypical Equine Thrombasthenia. ( 26290457 )
2015
42
Novel mutations of integrin I+IIb and I^3 genes in Turkish children with Glanzmann's thrombasthenia. ( 25734216 )
2015
43
I+IIbI^3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. ( 25827233 )
2015
44
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. ( 26096001 )
2015
45
Glanzmann's Thrombasthenia Diagnosed following Knee Arthroscopy. ( 26000186 )
2015
46
The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. ( 26001793 )
2015
47
Glanzmann's thrombasthenia: a rare case of spontaneous bilateral hemotympanum. ( 25613489 )
2015
48
Successful Treatment of Refractory Gastrointestinal Bleeding by Systemic (Oral) Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia. ( 26167349 )
2015
49
Second trimester prenatal diagnosis in Glanzmann's Thrombasthenia. ( 26709505 )
2015
50
The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. ( 26001792 )
2015

Variations for Thrombasthenia

Expression for Thrombasthenia

Search GEO for disease gene expression data for Thrombasthenia.

Pathways for Thrombasthenia

Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 CD36 EGF ITGA2 ITGA2B ITGB3 PTK2
2
Show member pathways
12.91 EGF ITGA2 ITGA2B ITGB3 PTK2 VTN
3
Show member pathways
12.81 EGF ITGA2 ITGA2B ITGB3 PTK2 VTN
4
Show member pathways
12.81 CD36 EGF F2 F3 F5 GP1BA
5
Show member pathways
12.8 F2 ITGA2 ITGA2B ITGB3 PTK2
6 12.53 EGF F2 ITGA2 ITGA2B ITGB3 PTK2
7
Show member pathways
12.34 EGF ITGA2 ITGA2B ITGB3 PTK2
8 12.22 HPSE ITGA2 ITGB3 PTK2 VTN
9
Show member pathways
12.15 ITGA2 ITGA2B ITGB3 PTK2
10
Show member pathways
12.13 F2 ITGA2 ITGA2B ITGB3 PTK2
11
Show member pathways
12.06 F2 F3 F5 GP1BA GP9
12 12.02 F2 F3 F5 VTN
13 11.93 F3 ITGB3 PTK2
14 11.89 GP1BA GP9 ITGA2 ITGA2B ITGB3
15
Show member pathways
11.88 CD36 GP1BA GP9 ITGA2 ITGA2B ITGB3
16 11.83 CD36 GP1BA ITGA2 ITGA2B ITGB3
17 11.81 ITGA2 ITGA2B PTK2
18
Show member pathways
11.79 F2 GP1BA GP9 ITGA2B ITGB3 PTK2
19 11.75 ITGA2 ITGA2B ITGB3 VTN
20 11.72 CD36 GP1BA GP9 ITGA2 ITGA2B ITGB3
21 11.68 ITGB3 PTK2 VTN
22
Show member pathways
11.63 ITGA2 ITGB3 VTN
23 11.6 GTF3A ITGB3 SELP
24 11.49 EGF ITGA2B ITGB3
25 11.49 ITGA2 ITGA2B ITGB3 VTN
26 11.46 GP1BA SELP VTN
27 11.46 GP9 ITGA2B ITGB3
28 11.37 ITGA2 ITGB3 VTN
29 11.34 ITGA2 ITGA2B ITGB3 PTK2
30 11.29 HPSE ITGA2 ITGA2B
31 11.26 EGF ITGA2B ITGB3
32 10.96 EGF ITGA2 ITGA2B ITGB3 PTK2
33 10.81 CD36 F2 GP9 ITGA2 ITGA2B ITGB3
34 10.77 GP1BA GP9 ITGA2
35 10.73 ITGB3 PTK2
36 10.65 GP1BA GP9

GO Terms for Thrombasthenia

Cellular components related to Thrombasthenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 CD36 F3 GP1BA ITGA2 ITGA2B ITGB3
2 external side of plasma membrane GO:0009897 9.35 CD36 F2 ITGA2 ITGA2B SELP
3 integrin complex GO:0008305 9.33 ITGA2 ITGA2B ITGB3
4 alphav-beta3 integrin-vitronectin complex GO:0071062 9.26 ITGB3 VTN
5 platelet alpha granule membrane GO:0031092 8.92 CD36 ITGA2B ITGB3 SELP
6 plasma membrane GO:0005886 10.15 CD36 EGF F2 F3 F5 GP1BA

Biological processes related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.88 ITGA2 ITGA2B ITGB3 PTK2 VTN
2 positive regulation of protein kinase B signaling GO:0051897 9.84 EGF F3 HPSE PTK2
3 platelet activation GO:0030168 9.83 F2 GP1BA GP9 ITGB3
4 integrin-mediated signaling pathway GO:0007229 9.81 ITGA2 ITGA2B ITGB3 PTK2
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.8 CD36 EGF ITGB3 VTN
6 wound healing GO:0042060 9.77 HPSE ITGA2 ITGB3
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 F2 PTK2 SELP
8 cell-matrix adhesion GO:0007160 9.72 HPSE ITGA2 ITGA2B ITGB3 VTN
9 hemostasis GO:0007599 9.65 F2 F3 F5 GP1BA GP9
10 blood coagulation, intrinsic pathway GO:0007597 9.63 F2 GP1BA GP9
11 platelet degranulation GO:0002576 9.63 CD36 EGF F5 ITGA2B ITGB3 SELP
12 apoptotic cell clearance GO:0043277 9.62 CD36 ITGB3
13 cell-substrate adhesion GO:0031589 9.61 ITGA2 ITGB3
14 positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000060 9.61 EGF PTK2
15 cell adhesion mediated by integrin GO:0033627 9.61 ITGA2 ITGB3 VTN
16 cell adhesion GO:0007155 9.61 CD36 GP1BA GP9 HPSE ITGA2 ITGA2B
17 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.6 ITGB3 VTN
18 mesodermal cell differentiation GO:0048333 9.58 ITGA2 ITGB3
19 positive regulation of positive chemotaxis GO:0050927 9.58 F3 ITGA2
20 positive regulation of leukocyte migration GO:0002687 9.58 ITGA2 ITGA2B SELP
21 angiogenesis involved in wound healing GO:0060055 9.57 HPSE ITGB3
22 positive regulation of phagocytosis, engulfment GO:0060100 9.55 CD36 ITGA2
23 positive regulation of blood coagulation GO:0030194 9.54 CD36 F2 HPSE
24 blood coagulation GO:0007596 9.23 CD36 F2 F3 F5 GP1BA GP9

Molecular functions related to Thrombasthenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.43 ITGA2 ITGB3 VTN
2 thrombospondin receptor activity GO:0070053 8.96 CD36 F2
3 extracellular matrix binding GO:0050840 8.8 ITGA2B ITGB3 VTN
4 protein binding GO:0005515 10.06 CD36 EGF F2 F3 F5 GP1BA

Sources for Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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