MCID: THR035
MIFTS: 39

Thrombasthenia malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Thrombasthenia

Aliases & Descriptions for Thrombasthenia:

Name: Thrombasthenia 50 69

Classifications:



Summaries for Thrombasthenia

MalaCards based summary : Thrombasthenia is related to glanzmann thrombasthenia and thrombasthenia of glanzmann and naegeli, itga2b-related. An important gene associated with Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are TGF-Beta Pathway and Integrin Pathway. The drugs Cyclosporine and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and whole blood, and related phenotypes are hematopoietic system and homeostasis/metabolism

Related Diseases for Thrombasthenia

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

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 12.5
2 thrombasthenia of glanzmann and naegeli, itga2b-related 11.8
3 thrombasthenia of glanzmann and naegeli, itgb3-related 11.8
4 bleeding disorder, platelet-type, 17 11.6
5 bleeding disorder, platelet-type, 16, autosomal dominant 11.1
6 bernard-soulier syndrome, type c 10.8
7 leukocyte adhesion deficiency, type iii 10.8
8 leukocyte adhesion deficiency 10.8
9 schlegelberger grote syndrome 10.8
10 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 10.1 ITGA2B ITGB3
11 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 10.1 ITGA2B ITGB3
12 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F2 ITGB3
13 severe nonproliferative diabetic retinopathy 10.1 ITGA2B ITGB3
14 coccidioidomycosis 10.1 F2 ITGA2B
15 gluten allergy 10.1 ITGA2B ITGB3
16 immunodeficiency 20 10.0 ITGA2B ITGB3
17 villous adenoma 10.0 F2 ITGB3
18 hereditary alpha tryptasemia syndrome 10.0 F2 ITGB3
19 autoimmune disease of central nervous system 10.0 F2 ITGB3
20 membranoproliferative glomerulonephritis 10.0 F2 ITGA2B
21 mental depression 10.0 ITGA2 ITGA2B
22 thrombocytopenia 10.0
23 thrombosis 10.0
24 von willebrand's disease 10.0
25 ischemic fasciitis 10.0 F2 ITGA2
26 kondoh syndrome 9.9 F2 ITGA2
27 intravascular fasciitis 9.9 F2 ITGA2
28 essential thrombocythemia 9.9 F2 ITGA2B ITGB3
29 bone development disease 9.9 F2 ITGB3
30 ocular hyperemia 9.9 F2 ITGA2B ITGB3
31 myeloproliferative neoplasm 9.9 F2 ITGA2B ITGB3
32 perichondritis of auricle 9.9 F2 ITGA2B ITGB3
33 basilar artery insufficiency 9.9 F2 ITGA2B ITGB3
34 gingivitis 9.9
35 duodenitis 9.9
36 cervix small cell carcinoma 9.9 F2 ITGA2B
37 scar contracture 9.8 F2 ITGA2
38 leukemia 9.8
39 hemarthrosis 9.8
40 fetal macrosomia 9.8 ITGA2 ITGA2B ITGB3
41 purpura 9.7
42 hermansky-pudlak syndrome 9.7
43 lymphoma 9.7
44 atherosclerosis 9.7
45 hematopoietic stem cell transplantation 9.7
46 endometriosis 9.7
47 immunodeficiency 21 9.6 F2 ITGA2 ITGA2B ITGB3
48 haemonchiasis 9.6 F2 ITGA2 ITGA2B ITGB3
49 tracheal disease 9.6 F2 ITGA2 ITGA2B ITGB3
50 myocardial infarction 9.6 F2 ITGA2 ITGA2B ITGB3

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to Thrombasthenia

Symptoms & Phenotypes for Thrombasthenia

MGI Mouse Phenotypes related to Thrombasthenia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.55 ITGB3 VTN F2 ITGA2 ITGA2B
2 homeostasis/metabolism MP:0005376 9.35 ITGB3 VTN F2 ITGA2 ITGA2B
3 normal MP:0002873 8.92 ITGB3 VTN F2 ITGA2

Drugs & Therapeutics for Thrombasthenia

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclosporine Approved, Investigational, Vet_approved Phase 1 79217-60-0, 59865-13-3 5284373 6435893
2
Mycophenolic acid Approved Phase 1 24280-93-1 446541
3
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
4
Abatacept Approved Phase 1 332348-12-6 10237
5 Immunosuppressive Agents Phase 1
6 Antirheumatic Agents Phase 1
7
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
8
Iron Approved 7439-89-6 23925
9
Fludarabine Approved 21679-14-1, 75607-67-9 30751
10
Busulfan Approved, Investigational 55-98-1 2478
11
alemtuzumab Approved, Investigational 216503-57-0
12 Hemostatics
13 Antifibrinolytic Agents
14 Antilymphocyte Serum
15 Dermatologic Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male Subjects Completed NCT01561417 Phase 1
2 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
3 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
4 Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets Unknown status NCT01957345
5 Observational Registry of the Treatment of Glanzmann's Thrombasthenia Completed NCT01476423
6 Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in Germany Completed NCT00697320
7 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
8 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359
9 A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Active, not recruiting NCT01876745
10 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Thrombasthenia

Genetic Tests for Thrombasthenia

Anatomical Context for Thrombasthenia

MalaCards organs/tissues related to Thrombasthenia:

39
Bone, Bone Marrow, Whole Blood, Monocytes, Testes, Endothelial, Myeloid

Publications for Thrombasthenia

Articles related to Thrombasthenia:

(show top 50) (show all 563)
id Title Authors Year
1
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
2
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
3
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
4
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
5
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2017
6
Endometriosis and GlanzmannA9s thrombasthenia. ( 27655515 )
2016
7
No genetic abnormalities identified in I+2IIb and I^3: phenotype overcomes genotype in Glanzmann thrombasthenia. ( 27808476 )
2016
8
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. ( 28096593 )
2016
9
Perioperative ROTEM and ROTEMplatelet monitoring in a case of Glanzmann's thrombasthenia. ( 26825624 )
2016
10
Simultaneous occurrence of intussusception and duodenal haematoma in a patient with Glanzmann's thrombasthenia. ( 28051053 )
2016
11
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
12
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
13
New Insights Into the Treatment of Glanzmann Thrombasthenia. ( 26968829 )
2016
14
Glanzmann thrombasthenia in a child manifesting after dengue infection. ( 28050106 )
2016
15
Surgical procedures in patients with Glanzmann's thrombasthenia: case series and literature review. ( 27273143 )
2016
16
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. ( 27469266 )
2016
17
Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann's Thrombasthenia with Chronic Gingival Bleed: Case Report. ( 26894187 )
2016
18
Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes. ( 27829878 )
2016
19
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
20
Is there a role for antiangiogenic therapy, bevacizumab, in the treatment of recurrent digestive bleeding due to angiodysplasia in Glanzmann's thrombasthenia? ( 27352634 )
2016
21
Glanzmann Thrombasthenia: A Clinicopathological Profile. ( 27539755 )
2016
22
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. ( 26764135 )
2016
23
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ( 27696190 )
2016
24
The Use of Ankaferd Blood Stopper in a Child With Glanzmann Thrombasthenia With Gingival Bleeding. ( 26207779 )
2015
25
Acute Epidural Hematoma Following Acute Subdural Hematoma Evacuation in a Child With Glanzmann Thrombasthenia. ( 26421897 )
2015
26
Live birth following an intracytoplasmic sperm injection in a patient with Glanzmann thrombasthenia. ( 26466915 )
2015
27
Second trimester prenatal diagnosis in Glanzmann's Thrombasthenia. ( 26709505 )
2015
28
Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. ( 26185478 )
2015
29
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. ( 26096001 )
2015
30
Novel mutations of integrin I+IIb and I^3 genes in Turkish children with Glanzmann's thrombasthenia. ( 25734216 )
2015
31
I+IIbI^3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. ( 25827233 )
2015
32
Glanzmann's Thrombasthenia Diagnosed following Knee Arthroscopy. ( 26000186 )
2015
33
Long-term therapy with bevacizumab in a patient with Glanzmann's thrombasthenia and recurrent digestive bleeding due to gastrointestinal angiodysplastic lesions. ( 25646919 )
2015
34
Successful use of recombinant factor VIIa in a patient with acquired Glanzmann thrombasthenia. ( 25471665 )
2015
35
Erratum to: A novel ELISA for diagnosis of Glanzmann's thrombasthenia and the heterozygote carriers. ( 25911135 )
2015
36
The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. ( 26001793 )
2015
37
Stem Cell Transplant in Severe Glanzmann Thrombasthenia in an Adult Patient. ( 26134714 )
2015
38
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. ( 25806962 )
2015
39
The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. ( 26001792 )
2015
40
Successful Treatment of Refractory Gastrointestinal Bleeding by Systemic (Oral) Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia. ( 26167349 )
2015
41
Glanzmann's thrombasthenia: a rare case of spontaneous bilateral hemotympanum. ( 25613489 )
2015
42
Glanzmann's thrombasthenia: meeting the anticoagulation challenge. ( 25939445 )
2015
43
Expanding the Mutation Spectrum Affecting I+IIbI^3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. ( 25728920 )
2015
44
Association of Factor V Secretion with Protein Kinase B Signaling in Platelets from Horses with Atypical Equine Thrombasthenia. ( 26290457 )
2015
45
NovoSeven (recombinant factor VIIa) for the treatment of bleeding episodes and perioperative management in patients with Glanzmann's thrombasthenia. ( 25387838 )
2014
46
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. ( 24418945 )
2014
47
Coincidence of Glanzmann's thrombasthenia with hereditary haemorrhagic telengiectasia in a man with gastrointestinal bleeding. ( 25083772 )
2014
48
Hematological and surgical management in Glanzmann's thrombasthenia: a case report. ( 24739923 )
2014
49
Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets. ( 24477274 )
2014
50
Use of allogeneic stem cell transplantation for moderate-severe Glanzmann thrombasthenia. ( 25548835 )
2014

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 41)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 F2 ITGA2 ITGA2B ITGB3
2
Show member pathways
13.05 F2 ITGA2 ITGA2B ITGB3 VTN
3
Show member pathways
13.02 F2 ITGA2 ITGA2B ITGB3
4
Show member pathways
12.69 ITGA2 ITGA2B ITGB3
5
Show member pathways
12.64 ITGA2 ITGA2B ITGB3
6
Show member pathways
12.64 F2 ITGA2 ITGA2B ITGB3
7
Show member pathways
12.63 ITGA2 ITGA2B ITGB3 VTN
8
Show member pathways
12.59 ITGA2 ITGA2B ITGB3
9
Show member pathways
12.57 ITGA2 ITGA2B ITGB3
10
Show member pathways
12.53 ITGA2 ITGA2B ITGB3
11
Show member pathways
12.41 ITGA2 ITGA2B ITGB3 VTN
12
Show member pathways
12.39 ITGA2 ITGB3 VTN
13 12.3 F2 ITGA2 ITGA2B ITGB3
14 12.2 ITGA2 ITGA2B ITGB3 VTN
15
Show member pathways
12.19 ITGA2 ITGA2B ITGB3
16 12.08 ITGA2 ITGB3 VTN
17
Show member pathways
12.01 ITGA2 ITGA2B ITGB3
18 11.9 ITGA2 ITGA2B ITGB3
19
Show member pathways
11.82 ITGA2 ITGA2B ITGB3
20 11.8 ITGA2 ITGA2B ITGB3
21 11.77 ITGA2 ITGA2B ITGB3
22 11.76 ITGA2 ITGA2B ITGB3
23
Show member pathways
11.73 ITGA2 ITGA2B ITGB3 VTN
24
Show member pathways
11.66 F2 ITGA2B ITGB3
25 11.64 ITGA2 ITGA2B ITGB3
26 11.6 ITGA2 ITGA2B
27 11.54 ITGB3 VTN
28
Show member pathways
11.53 ITGB3 VTN
29 11.49 ITGA2 ITGA2B ITGB3
30
Show member pathways
11.41 ITGA2 ITGB3 VTN
31 11.39 ITGA2 ITGA2B ITGB3 VTN
32 11.35 ITGA2B ITGB3
33 11.33 ITGA2B ITGB3
34 11.3 ITGB3 VTN
35 11.21 ITGA2 ITGA2B
36 11.15 ITGA2B ITGB3
37 11.1 ITGA2 ITGB3 VTN
38 11.05 ITGA2B ITGB3
39 11.01 ITGA2 ITGA2B ITGB3 VTN
40 10.93 ITGA2B ITGB3
41 10.63 F2 ITGA2 ITGA2B ITGB3

GO Terms for Thrombasthenia

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.58 ITGA2 ITGA2B ITGB3
2 focal adhesion GO:0005925 9.54 ITGA2 ITGA2B ITGB3
3 external side of plasma membrane GO:0009897 9.5 F2 ITGA2 ITGA2B
4 Golgi lumen GO:0005796 9.43 F2 VTN
5 blood microparticle GO:0072562 9.43 F2 ITGA2B VTN
6 platelet alpha granule membrane GO:0031092 9.16 ITGA2B ITGB3
7 alphav-beta3 integrin-vitronectin complex GO:0071062 8.96 ITGB3 VTN
8 integrin complex GO:0008305 8.8 ITGA2 ITGA2B ITGB3

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.65 F2 ITGA2 ITGB3
2 cell adhesion GO:0007155 9.62 ITGA2 ITGA2B ITGB3 VTN
3 platelet degranulation GO:0002576 9.58 ITGA2B ITGB3
4 platelet activation GO:0030168 9.58 F2 ITGB3
5 regulation of complement activation GO:0030449 9.57 F2 VTN
6 wound healing GO:0042060 9.56 ITGA2 ITGB3
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.55 ITGB3 VTN
8 viral entry into host cell GO:0046718 9.54 ITGA2 ITGB3
9 platelet aggregation GO:0070527 9.52 ITGA2B ITGB3
10 positive regulation of collagen biosynthetic process GO:0032967 9.51 F2 ITGA2
11 positive regulation of smooth muscle cell migration GO:0014911 9.49 ITGA2 VTN
12 cell-substrate adhesion GO:0031589 9.46 ITGA2 ITGB3
13 extracellular matrix organization GO:0030198 9.46 ITGA2 ITGA2B ITGB3 VTN
14 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.43 ITGB3 VTN
15 integrin-mediated signaling pathway GO:0007229 9.43 ITGA2 ITGA2B ITGB3
16 positive regulation of leukocyte migration GO:0002687 9.4 ITGA2 ITGA2B
17 mesodermal cell differentiation GO:0048333 9.37 ITGA2 ITGB3
18 cell adhesion mediated by integrin GO:0033627 9.13 ITGA2 ITGB3 VTN
19 cell-matrix adhesion GO:0007160 8.92 ITGA2 ITGA2B ITGB3 VTN

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.26 ITGA2 VTN
2 virus receptor activity GO:0001618 9.16 ITGA2 ITGB3
3 collagen binding GO:0005518 8.96 ITGA2 VTN
4 extracellular matrix binding GO:0050840 8.8 ITGA2B ITGB3 VTN

Sources for Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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