MCID: THR035
MIFTS: 45

Thrombasthenia malady

Rare diseases, Blood diseases categories
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Summaries for Thrombasthenia

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Wikipedia:65 Glanzmann\'s thrombasthenia is an abnormality of platelets. It is an extremely rare coagulopathy... more...

MalaCards based summary: Thrombasthenia is related to glanzmann's thrombasthenia and von willebrand's disease. An important gene associated with Thrombasthenia is ITGA2B (integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)), and among its related pathways are Ephrin B reverse signaling and Arf6 signaling events. The compounds a 286982 and obtustatin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and whole blood, and related mouse phenotypes are cellular and hematopoietic system.

Aliases & Classifications for Thrombasthenia

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Thrombasthenia, Aliases & Descriptions:

Name: Thrombasthenia 42 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases


Related Diseases for Thrombasthenia

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia32.1ITGB3, ITGA2B
2von willebrand's disease30.8GP1BA, ITGA2B
3bernard-soulier syndrome30.5ITGA2, ITGA2B, ITGB3, GP1BA
4autoimmune thrombocytopenic purpura30.2GP1BA, ITGB3
5endometriosis29.9ITGB3, VTN
6thrombocytopenia29.6PECAM1, GP1BA, ITGB3, ITGA2B, ITGA2
7atherosclerosis29.5PECAM1, VTN, ITGB3, ITGA2B
8coronary thrombosis10.4ITGB3
9bleeding disorder, platelet-type, 16, autosomal dominant10.3ITGB3, ITGA2B
10blood platelet disease10.2ITGA2B, GP1BA
11leukemia10.2
12hemarthrosis10.2
13duodenitis10.2
14hematopoietic stem cell transplantation10.1
15hermansky-pudlak syndrome10.1
16gingivitis10.1
17purpura10.1
18thrombasthenia of glanzmann and naegeli, itgb3-related10.1
19thrombasthenia of glanzmann and naegeli, itga2b-related10.1
20venous thrombosis10.1
21fibrosarcoma10.0ITGA2, VTN
22acute myocardial infarction10.0ITGA2B, PECAM1
23acute lymphoblastic leukemia9.9
24acute myeloid leukemia9.9
25ataxia telangiectasia9.9
26hepatitis9.9
27hodgkin's lymphoma9.9
28osteopetrosis9.9
29primary ciliary dyskinesia9.9
30systemic lupus erythematosus9.9
31factor xi deficiency9.9
32prothrombin deficiency9.9
33leukocyte adhesion deficiency9.9
34diabetes insipidus9.9
35xeroderma pigmentosum9.9
36evans' syndrome9.9
37amyloidosis9.9
38cystitis9.9
39hypopituitarism9.9
40lupus erythematosus9.9
41lymphoblastic leukemia9.9
42meningioma9.9
43mucopolysaccharidosis9.9
44myeloid leukemia9.9
45periodontitis9.9
46retinitis9.9
47tuberculosis9.9
48uremia9.9
49vaginitis9.9
50ventricular septal defect9.9

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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Drug clinical trials:

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Genetic Tests for Thrombasthenia

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Anatomical Context for Thrombasthenia

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MalaCards organs/tissues related to Thrombasthenia:

32
Bone, Bone marrow, Whole blood, Monocytes, Testes, Heart, Smooth muscle, Skin, Myeloid, Endothelial

Animal Models for Thrombasthenia or affiliated genes

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MGI Mouse Phenotypes related to Thrombasthenia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.7ITGA2, ITGA2B, ITGB3, GP1BA, PECAM1
2MP:00053977.0ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1
3MP:00053766.8PECAM1, GP1BA, VTN, ITGB3, ITGA2B, ITGA2

Publications for Thrombasthenia

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Articles related to Thrombasthenia:

(show top 50)    (show all 512)
idTitleAuthorsYear
1
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. (24829739)
2014
2
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
3
A novel amino acid substitution of integrin I+IIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining I^-propeller structure. (22394243)
2013
4
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. (24342105)
2013
5
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
6
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report. (20736850)
2010
7
A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi. (18976939)
2009
8
Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations. (19245802)
2009
9
Allogeneic stem cell transplantation for Glanzmann thrombasthenia. (19101997)
2009
10
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. (18450741)
2008
11
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. (18832906)
2008
12
Stem cell transplantation for children with Glanzmann thrombasthenia. (18205861)
2008
13
Glanzmann thrombasthenia in a neonate. (17277431)
2007
14
Glanzmann's thrombasthenia in two pregnant females. (17013816)
2007
15
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. (16879215)
2006
16
Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia. (16217260)
2005
17
A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa. (15886807)
2005
18
The use of recombinant factor VIla in a primigravida with Glanzmann's thrombasthenia during delivery. (15493726)
2004
19
Rebuttal: the French Gypsy mutation does not give rise to a particularly mild form of Glazmann's thrombasthenia. (14629489)
2003
20
Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia. (12434904)
2002
21
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. (11588040)
2001
22
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia. (11735106)
2001
23
Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. (11197210)
2000
24
Severe and relapsing upper gastrointestinal bleeding in a patient with Glanzmann's thrombasthenia. (10749344)
2000
25
Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes. (9493569)
1998
26
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia. (9450787)
1998
27
GLANZMANN's THROMBASTHENIA-SPECTRUM OF CLINICAL PRESENTATION ON SAUDI PATIENTS IN THE EASTERN PROVINCE. (23008567)
1997
28
Immunization against platelet glycoprotein IIb-IIIa in Glanzmann's thrombasthenia. (9222293)
1997
29
A mutant (Arg327-->His) GPIIb associated to thrombasthenia exerts a dominant negative effect in stably transfected CHO cells. (8883261)
1996
30
A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. (8781422)
1996
31
Hepatic haematoma related to Glanzmann thrombasthenia in a newborn infant. (8616139)
1996
32
Detection by PCR and HphI restriction analysis of a splice site mutation at the 5' end of intron 15 of the platelet GPIIb (alpha IIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area. (8571335)
1995
33
Thrombasthenia--a rare cause of Sheehan's syndrome. (7604695)
1995
34
Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)
1993
35
Characterization of an antibody to the integrin beta 3 subunit (GP IIIa) from a patient with neonatal thrombocytopenia and an inherited deficiency of GP IIb-IIIa complexes in platelets (Glanzmann's thrombasthenia). (1633270)
1992
36
Delivery of infants with Glanzmann thrombasthenia and subsequent blood transfusion requirements: a follow-up of 39 patients. (1566741)
1992
37
Antibody removal therapy used successfully at delivery of a pregnant patient with Glanzmann's thrombasthenia and multiple anti-platelet antibodies. (1949709)
1991
38
Aggregation of human peripheral blood mononuclear cells by calcium ionophore A23187. Comparison with the aggregation of platelets and defective response in Glanzmann's thrombasthenia. (3136623)
1988
39
Limited septoplasty as treatment for recurrent epistaxis in a child with Glanzmann's thrombasthenia. (3821355)
1987
40
Glanzmann's thrombasthenia: diagnosis supplemented by HP1-1D monoclonal antibody. (3463656)
1986
41
Ristocetin-induced platelet agglutination in four Chinese patients with Glanzmann's thrombasthenia. (4000715)
1985
42
Glycoprotein IIb-IIIa complex in platelets of patients and heterozygotes of Glanzmann's thrombasthenia. (6229900)
1983
43
Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia. (7152371)
1982
44
Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann's thrombasthenia type I and type II. (6454435)
1981
45
Pregnancy and parturition in a patient with severe Glanzmann's thrombasthenia. (7313543)
1981
46
Additional platelet membrane glycoprotein abnormalities in Glanzmann's thrombasthenia: A comparison with normals by high resolution two-dimensional polyacrylamide gel electrophoresis. (6158116)
1980
47
Platelet membrane defects in Glanzmann's thrombasthenia. Evidence for decreased amounts of two major glycoproteins. (70433)
1977
48
Transient thrombasthenia in a patient with tuberculosis. (4453925)
1974
49
Thrombasthenia. (5542851)
1971
50
Glanzmann's thrombasthenia and pregnancy. (5461433)
1970

Variations for Thrombasthenia

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Expression for genes affiliated with Thrombasthenia

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Expression patterns in normal tissues for genes affiliated with Thrombasthenia

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/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ITGA2B, ITGB3
29.6ITGA2B, ITGB3
39.6ITGB3, ITGA2B
49.6ITGB3, ITGA2B
59.6ITGA2B, ITGB3
69.5ITGA2B, ITGA2
79.5ITGA2B, ITGA2
89.4GP1BA, ITGA2
9
Show member pathways
9.4ITGB3, VTN
10
Show member pathways
9.4ITGB3, VTN
119.4ITGB3, VTN
129.3GP1BA, VTN
13
Show member pathways
9.2ITGB3, PECAM1
149.2ITGB3, PECAM1
15
Show member pathways
9.1GP1BA, ITGB3, ITGA2B
16
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
17
Show member pathways
9.1ITGB3, ITGA2B, ITGA2
18
Show member pathways
9.1ITGB3, ITGA2B, ITGA2
19
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
20
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
21
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
22
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
23
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
24
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
25
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
269.1ITGA2, ITGA2B, ITGB3
279.1ITGA2, ITGA2B, ITGB3
28
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
29
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.1ITGB3, ITGA2B, ITGA2
30
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1ITGB3, ITGA2B, ITGA2
318.9ITGA2, ITGB3, VTN
32
Show member pathways
Proteogylcan syndecan-mediated signaling events37
8.9ITGA2, ITGB3, VTN
33
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.9ITGA2, ITGB3, VTN
34
Show member pathways
8.8ITGA2B, ITGB3, PECAM1
358.6ITGA2, ITGA2B, ITGB3, GP1BA
368.5ITGA2, ITGA2B, ITGB3, VTN
37
Show member pathways
8.5ITGA2, ITGA2B, ITGB3, VTN
388.5VTN, ITGB3, ITGA2B, ITGA2
398.5VTN, ITGB3, ITGA2B, ITGA2
408.1PECAM1, VTN, ITGB3, ITGA2
41
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
7.9ITGA2, ITGA2B, ITGB3, VTN, GP1BA
42
Show member pathways
7.7PECAM1, GP1BA, ITGB3, ITGA2B, ITGA2
437.6ITGA2, ITGA2B, ITGB3, VTN, PECAM1
44
Show member pathways
7.6ITGA2, ITGA2B, ITGB3, VTN, PECAM1
45
Show member pathways
7.6PECAM1, VTN, ITGB3, ITGA2B, ITGA2

Compounds for genes affiliated with Thrombasthenia

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Compounds related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1a 2869826110.0ITGA2B, ITGB3
2obtustatin6110.0ITGA2B, ITGB3
3bio 12116110.0ITGB3, ITGA2B
4leukadherin 16110.0ITGB3, ITGA2B
5tc-i 156110.0ITGB3, ITGA2B
6rhodostomin449.8VTN, ITGB3
7ristocetin449.8ITGB3, GP1BA
8convulxin449.8GP1BA, ITGA2
9titanium449.7VTN, ITGB3
10grgdsp449.7ITGA2, VTN
11glutaraldehyde449.6VTN, ITGA2
12guanidine44 24 1111.6ITGA2, VTN
13cytochalasin b449.6VTN, GP1BA
14tripeptide449.6ITGA2, VTN
15kininogen449.5GP1BA, VTN
16polyurethane449.5PECAM1, VTN
17n-ethylmaleimide44 1110.4VTN, GP1BA
18fucoidan449.3VTN, PECAM1
19sodium dodecylsulfate449.3VTN, ITGA2
20proline449.2GP1BA, ITGB3, ITGA2
21latex449.2ITGA2, VTN, GP1BA
22epinephrine44 24 1111.2ITGA2, VTN, GP1BA
23clopidogrel44 50 24 1112.1PECAM1, ITGB3, ITGA2
24formaldehyde44 2410.1ITGA2B, GP1BA, PECAM1
25glycosaminoglycan449.1VTN, PECAM1
26aspartate449.1ITGA2, ITGB3, VTN
27sialic acid449.0VTN, PECAM1
28tirofiban44 119.9VTN, ITGB3, ITGA2B, ITGA2
29abciximab44 119.9ITGA2B, ITGB3, VTN, GP1BA
30cytochalasin d44 619.9VTN, GP1BA, PECAM1
31lysine448.9ITGA2, ITGA2B, ITGB3, VTN
32prostacyclin448.9PECAM1, GP1BA, VTN
33matrigel448.9ITGA2, VTN, PECAM1
34phosphatidylinositol448.7ITGA2, VTN, GP1BA
35cycloheximide448.7ITGA2, VTN, PECAM1
36alanine448.6ITGB3, VTN, GP1BA
37threonine448.5ITGA2, ITGB3, GP1BA, PECAM1
38glucose448.5PECAM1, GP1BA, ITGB3, ITGA2
39vegf448.4PECAM1, VTN, ITGB3, ITGA2
40heparin44 28 24 1111.4PECAM1, GP1BA, VTN, ITGA2
41atp44 289.4PECAM1, VTN, ITGB3, ITGA2
42lipid448.3ITGA2, ITGB3, VTN, PECAM1
43cysteine448.1PECAM1, VTN, ITGB3, ITGA2B, ITGA2
44serine448.0PECAM1, GP1BA, VTN, ITGB3, ITGA2B
45aspirin44 50 28 2411.0PECAM1, GP1BA, VTN, ITGB3, ITGA2
46tyrosine447.9PECAM1, GP1BA, VTN, ITGB3, ITGA2
47fibrinogen447.6ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1
48adp44 28 249.6ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1
49calcium44 50 24 1110.6ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1

GO Terms for genes affiliated with Thrombasthenia

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Cellular components related to Thrombasthenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.4ITGA2B, VTN
2alphav-beta3 integrin-vitronectin complexGO:0710629.4ITGB3, VTN
3integrin complexGO:0083059.2ITGA2, ITGA2B, ITGB3
4focal adhesionGO:0059259.0ITGB3, ITGA2B, ITGA2
5platelet alpha granule membraneGO:0310928.9ITGA2B, ITGB3, PECAM1
6plasma membraneGO:0058867.4ITGA2, ITGA2B, ITGB3, GP1BA, PECAM1

Biological processes related to Thrombasthenia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of leukocyte migrationGO:0026879.7ITGA2, ITGA2B
2platelet aggregationGO:0705279.6ITGA2B, ITGB3
3positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:0309499.5ITGB3, VTN
4positive regulation of smooth muscle cell migrationGO:0149119.4VTN, ITGA2
5integrin-mediated signaling pathwayGO:0072299.3ITGA2, ITGA2B, ITGB3
6leukocyte migrationGO:0509009.2ITGB3, PECAM1
7positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1ITGB3, VTN
8axon guidanceGO:0074119.0ITGB3, ITGA2B, ITGA2
9platelet degranulationGO:0025769.0PECAM1, ITGB3, ITGA2B
10cell-matrix adhesionGO:0071608.7VTN, ITGB3, ITGA2B, ITGA2
11platelet activationGO:0301688.5PECAM1, GP1BA, ITGB3, ITGA2B
12blood coagulationGO:0075968.0ITGA2, ITGA2B, ITGB3, GP1BA, PECAM1
13extracellular matrix organizationGO:0301987.9PECAM1, VTN, ITGB3, ITGA2B, ITGA2
14cell adhesionGO:0071557.4ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1

Molecular functions related to Thrombasthenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.3ITGA2B, VTN
2integrin bindingGO:0051789.3ITGA2, VTN
3protein bindingGO:0055156.8PECAM1, GP1BA, VTN, ITGB3, ITGA2B, ITGA2

Products for genes affiliated with Thrombasthenia

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Sources for Thrombasthenia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet