MCID: THR035
MIFTS: 38

Thrombasthenia malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Thrombasthenia

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Aliases & Descriptions for Thrombasthenia:

Name: Thrombasthenia 45 65

Classifications:



Summaries for Thrombasthenia

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MalaCards based summary: Thrombasthenia is related to bernard-soulier syndrome, type c and bleeding disorder, platelet-type, 16, autosomal dominant. An important gene associated with Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways are Signal transduction by L1 and Ephrin B reverse signaling. Affiliated tissues include breast, brain and lung, and related mouse phenotypes are digestive/alimentary and reproductive system.

Related Diseases for Thrombasthenia

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

(show top 50)    (show all 446)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c30.4F2, GP9, ITGA2, ITGA2B, ITGB3
2bleeding disorder, platelet-type, 16, autosomal dominant30.3EGF, F2, F3, F5, GP9, ITGA2
3renovascular hypertension30.1GP9, ITGA2, ITGA2B
4adenocarcinoma29.9F2, F3, F5, MTHFR
5thyroid cancer29.7F3, F5, ITGA2B, MTHFR
6factor x deficiency29.6EGF, F2, F3, F5
7islet cell tumor29.6F2, F5, ITGB3, MTHFR
8retinitis pigmentosa29.5F2, F5, ITGA2, MTHFR
9myocardial infarction29.2F2, F3, F5, ITGA2, ITGA2B, ITGB3
10glanzmann thrombasthenia12.7
11thrombasthenia of glanzmann and naegeli, itga2b-related12.3
12thrombasthenia of glanzmann and naegeli, itgb3-related12.3
13bleeding disorder, platelet-type, 1711.4
14schlegelberger grote syndrome11.3
15pyridoxamine 5'-phosphate oxidase deficiency10.5ITGA2B, ITGB3
16short stature due to primary acid-labile subunit deficiency10.5ITGA2B, ITGB3
17central nervous system osteosarcoma10.4F2, F3
18esophagus melanoma10.4F2, F3
19epiglottitis10.4F2, F3
20cyclothymic disorder10.4F2, F3
21corneal argyrosis10.4F2, ITGA2B
22fowler's syndrome10.4F2, F3
23von willibrand disease, type 310.4F2, F3
24vaginal villous adenoma10.4F2, F3
25cavernous hemangioma of colon10.4F2, F3
26silo filler's disease10.4F2, F3
27abducens nerve neoplasm10.4F2, F3
28fetal antihypertensive drugs syndrome10.4ITGA2, ITGA2B, ITGB3
29glossopharyngeal nerve neoplasm10.4F3, ITGA2B
30hypertrichosis10.4F2, F3
31pulmonary fibrosis, familial10.4F2, MTHFR
32microcytic anemia10.4F2, F3
33splenic abscess10.3F2, F3
34learning disability10.3ITGA2B, ITGB3
35skull base meningioma10.3F2, F3
36ischemic optic neuropathy10.3F3, ITGB3
37leukocyte adhesion deficiency, type iii10.3
38leukocyte adhesion deficiency10.3
39tall stature-scoliosis-macrodactyly of the great toes syndrome10.3F2, F5
40autoimmune disease of cardiovascular system10.3ITGA2B, ITGB3
41acquired thrombocytopenia10.3F2, F3, ITGA2B
42kidney sarcoma10.3F2, F3
43hepatitis10.3
44leukemia10.3
45internuclear ophthalmoplegia10.3F2, F5
46herpes gestationis10.3F2, F3, VTN
47microscopic colitis10.3F2, F5
48thrombophilia due to thrombin defect10.3F2, F5
49nephropathia epidemica10.3F2, F3
50breast cancer10.3

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to thrombasthenia

Symptoms for Thrombasthenia

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Drugs & Therapeutics for Thrombasthenia

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AbataceptapprovedPhase 1139332348-12-610237
Synonyms:
CTLA4-Ig
CTLA4-IgG4m
 
CTLA4Ig
CTLA4IgG4m
Orencia
2Immunologic FactorsPhase 118483
3Immunosuppressive AgentsPhase 110422
4Antirheumatic AgentsPhase 18496
5Hemostatics1082
6Antifibrinolytic Agents346
7Dermatologic Agents4555

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male SubjectsCompletedNCT01561417Phase 1
2Abatacept Reduced Intensity for Non-Malignant DiseasesRecruitingNCT01917708Phase 1
3Observational Registry of the Treatment of Glanzmann's ThrombastheniaCompletedNCT01476423
4Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in GermanyCompletedNCT00697320
5The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.RecruitingNCT00230165
6Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of PlateletsRecruitingNCT01957345
7Evaluation of Menses in Congenital Bleeding DisordersRecruitingNCT01261936
8A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in JapanEnrolling by invitationNCT01876745
9Alefacept and Allogeneic Hematopoietic Stem Cell TransplantationSuspendedNCT01319851

Search NIH Clinical Center for Thrombasthenia

Genetic Tests for Thrombasthenia

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Anatomical Context for Thrombasthenia

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MalaCards organs/tissues related to Thrombasthenia:

33
Breast, Brain, Lung, Endothelial, T cells, Prostate, Heart

Animal Models for Thrombasthenia or affiliated genes

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MGI Mouse Phenotypes related to Thrombasthenia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6EGF, F2, ITGA2B, ITGB3, PTK2, THRA
2MP:00053898.2EGF, F2, ITGA2B, ITGB3, MTHFR, PTK2
3MP:00053808.0F2, F3, F5, ITGA2B, ITGB3, PSMG1
4MP:00028737.7EGF, F2, F3, ITGA2, ITGB3, PSMG1
5MP:00107717.4EGF, F2, F3, F5, ITGA2, ITGB3
6MP:00053977.3F2, F3, GP9, ITGA2, ITGA2B, ITGB3
7MP:00053766.9F2, F3, F5, ITGA2, ITGA2B, ITGB3
8MP:00053856.7F2, F3, F5, ITGA2B, ITGB3, PSMG1
9MP:00053786.6EGF, F2, F3, F5, ITGB3, MTHFR

Publications for Thrombasthenia

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Articles related to Thrombasthenia:

(show top 50)    (show all 539)
idTitleAuthorsYear
1
Distinct loci of lexical and semantic access deficits in aphasia: Evidence from voxel-based lesion-symptom mapping and diffusion tensor imaging. (25880795)
2015
2
Child maltreatment and interpersonal relationship among Chinese children with oppositional defiant disorder. (26560234)
2015
3
Cytokine-induced slowing of STAT3 nuclear import; faster basal trafficking of the STAT3I^ isoform. (24903907)
2014
4
Single stage tuberous breast reconstruction: The medical wedge technique. (24074558)
2013
5
Intra and post-operative complications of esophageal achalasia. (24140679)
2013
6
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos. (22565643)
2012
7
Impending anterior ischemic optic neuropathy with elements of retinal vein occlusion in a patient on interferon for polycythemia vera. (23152654)
2012
8
Coronary artery calcification in hemophilia A: no evidence for a protective effect of factor VIII deficiency on atherosclerosis. (22173226)
2012
9
Primary primitive neuroectodermal tumor of the urinary bladder: a case report and literature review. (20852971)
2011
10
The glycine transporter GLYT1 in human intestine: expression and function. (21628872)
2011
11
HMGB1 blockade attenuates experimental autoimmune myocarditis and suppresses Th17-cell expansion. (21928275)
2011
12
Thymoma associated with malignancies may herald a hereditary cancer syndrome. (20734236)
2010
13
Prenatal diagnosis and genetic counseling for mosaic trisomy 13. (20466287)
2010
14
Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. (19898481)
2009
15
Differential effects of HIV type 1 clade B and clade C Tat protein on expression of proinflammatory and antiinflammatory cytokines by primary monocytes. (19621989)
2009
16
Cdk5-dependent regulation of Rho activity, cytoskeletal contraction, and epithelial cell migration via suppression of Src and p190RhoGAP. (19822667)
2009
17
Evaluation of alternatives to warfarin as probes for Sudlow site I of human serum albumin: characterization by high-performance affinity chromatography. (18926542)
2009
18
Possible difference in frequencies of genetic polymorphisms of estrogen receptor alpha, estrogen metabolism and P53 genes between estrogen receptor-positive and -negative breast cancers. (18820009)
2008
19
Integrating risk factors: HLA-DRB1*1501 and Epstein-Barr virus in multiple sclerosis. (18272866)
2008
20
Polymorphisms in two genes, IL-1B and ACE, are associated with erythropoietin resistance in Korean patients on maintenance hemodialysis. (18446054)
2008
21
Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase expression in tumor tissue, regarding the efficacy of postoperatively administered UFT (tegafur+uracil) in patients with non-small cell lung cancer. (17695427)
2007
22
Late enhancement detected by cardiac magnetic resonance imaging in acute myocarditis mimicking acute myocardial infarction: location patterns and lack of correlation with systolic function. (18163015)
2007
23
Evaluation of the anti-hepatitis C virus effect of novel potent, selective, and orally bioavailable JNK and VEGFR kinase inhibitors. (17289388)
2007
24
A high-grade uterine leiomyosarcoma with human chorionic gonadotropin production. (16810064)
2006
25
A cell-based ultra-high-throughput screening assay for identifying inhibitors of D-amino acid oxidase. (16760370)
2006
26
Susceptibility genes for age-related maculopathy on chromosome 10q26. (16080115)
2005
27
Vasoactive intestinal peptide induces neuroendocrine differentiation in the LNCaP prostate cancer cell line through PKA, ERK, and PI3K. (15468165)
2005
28
Effects of econazole on Ca2+ levels in and the growth of human prostate cancer PC3 cells. (16173930)
2005
29
Analysis of QT Interval Prolongation With Heart Failure by Simulation of Repolarization Process. (17281968)
2005
30
Primary embryonal rhabdomyosarcoma of the breast in an adult female. (15871711)
2005
31
High endometrial aromatase P450 mRNA expression is associated with poor IVF outcome. (14747179)
2004
32
Crystal structure of S-adenosyl-L-homocysteine hydrolase from the human malaria parasite Plasmodium falciparum. (15476817)
2004
33
Clinical characterization of interleukin-8 in patients with idiopathic pulmonary fibrosis]. (12645107)
2002
34
Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families. (12114493)
2002
35
BetaIV spectrin, a new spectrin localized at axon initial segments and nodes of Ranvier in the central and peripheral nervous system. (11086001)
2000
36
Modulation of major histocompatibility class II protein expression by varicella-zoster virus. (10644363)
2000
37
Transcriptional activation of mouse cytosolic chaperonin CCT subunit genes by heat shock factors HSF1 and HSF2. (10561509)
1999
38
lck-independent inhibition of T cell antigen response by the HIV gp120. (9759876)
1998
39
Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease. (9314241)
1997
40
Brain microvascular and astrocyte localization of P-glycoprotein. (9048775)
1997
41
Trigeminal sensory loss in orbital disease. (8060923)
1994
42
Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. (7524513)
1994
43
Increased PMA-induced chemiluminescence from whole blood of patients with bronchial hyperreactivity. (7957828)
1994
44
Divergent regulation of phosphatidylinositol 3-kinase P85 alpha and P85 beta isoforms upon T cell activation. (8388374)
1993
45
Cytoplasmic gamma-glutamyltransferase: isolation, product formation and physiological role. (28899)
1977
46
Strawberry pickers' foot drop. (912290)
1977
47
Persistence of intraventricular air after pneumoencephalography: its failure to distinguish between cerebral atrophy and normal pressure hydrocephalus. (1226627)
1975
48
Effects of calcitonin in metastatic bone carcinoma, osteoporosis, polyostotic fibrous dysplasia and hypercalcemia. (4254451)
1971
49
Primary endocardial fibroelastosis. (5958562)
1966
50

Variations for Thrombasthenia

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Expression for genes affiliated with Thrombasthenia

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Search GEO for disease gene expression data for Thrombasthenia.

Pathways for genes affiliated with Thrombasthenia

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Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 33)
idSuper pathwaysScoreTop Affiliating Genes
110.0ITGA2B, ITGB3
210.0ITGA2B, ITGB3
39.8GP9, ITGA2
49.7EGF, ITGA2B, ITGB3
59.7EGF, ITGA2B, ITGB3
6
Show member pathways
9.7ITGA2, ITGA2B, ITGB3
79.7ITGA2, ITGA2B, ITGB3
89.7ITGA2, ITGA2B, ITGB3
9
Show member pathways
9.6ITGA2, ITGB3, VTN
109.6ITGA2, ITGB3, VTN
119.4ITGA2, ITGA2B, ITGB3, VTN
12
Show member pathways
9.4ITGA2, ITGA2B, ITGB3, VTN
139.4ITGA2, ITGA2B, ITGB3, VTN
149.4ITGA2, ITGA2B, PTK2
159.3GP9, ITGA2, ITGA2B, ITGB3
169.3GP9, ITGA2, ITGA2B, ITGB3
17
Show member pathways
9.1GP9, ITGA2, ITGA2B, ITGB3
18
Show member pathways
9.1F2, F3, F5, VTN
19
Show member pathways
9.1ITGA2, ITGB3, PTK2, VTN
209.1ITGA2, ITGB3, PTK2, VTN
219.1EGF, ITGA2, ITGA2B, PTK2
22
Show member pathways
9.0GP9, ITGA2, ITGA2B, ITGB3, VTN
23
Show member pathways
9.0F2, F3, F5, GP9
249.0F2, GP9, ITGA2, ITGA2B, ITGB3
25
Show member pathways
8.9F2, ITGA2, ITGA2B, ITGB3, PTK2
26
Show member pathways
8.8EGF, ITGA2, ITGA2B, ITGB3, PTK2
27
Show member pathways
8.8EGF, ITGA2, ITGA2B, ITGB3, PTK2
28
Show member pathways
8.8F2, GP9, ITGA2B, ITGB3, PTK2
298.6EGF, ITGA2, ITGA2B, ITGB3, PTK2, VTN
30
Show member pathways
8.6EGF, ITGA2, ITGA2B, ITGB3, PTK2, VTN
31
Show member pathways
8.6EGF, F2, ITGA2, ITGA2B, ITGB3, PTK2
32
Show member pathways
8.3EGF, F2, ITGA2, ITGA2B, ITGB3, PTK2
33
Show member pathways
7.4EGF, F2, F3, F5, GP9, ITGA2

GO Terms for genes affiliated with Thrombasthenia

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of leukocyte migrationGO:000268710.3ITGA2, ITGA2B
2positive regulation of DNA bindingGO:004338810.3EGF, ITGA2
3positive regulation of smooth muscle cell migrationGO:001491110.1F3, ITGA2
4integrin-mediated signaling pathwayGO:00072299.9ITGA2B, ITGB3, PTK2
5cell-matrix adhesionGO:00071609.9ITGA2, ITGA2B, ITGB3, VTN
6platelet activationGO:00301689.5EGF, ITGB3, PTK2
7axon guidanceGO:00074119.1EGF, ITGA2, ITGB3, PTK2
8cell adhesionGO:00071558.5GP9, ITGA2B, ITGB3, PTK2, VTN
9blood coagulationGO:00075968.4EGF, F2, F5, GP9, ITGA2, ITGB3

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.9EGF, F2

Sources for Thrombasthenia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet