MCID: THR035
MIFTS: 36

Thrombasthenia malady

Rare diseases, Blood diseases categories

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 osteopetrosis and thrombophilia due to thrombin defect. 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 Signaling events mediated by PTP1B and Arf6 signaling events. Affiliated tissues include bone, bone marrow and whole blood, and related mouse phenotypes are digestive/alimentary and vision/eye.

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 169)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.0F2, F5, MTHFR
2thrombophilia due to thrombin defect29.8F2, F3, F5, MTHFR
3ventricular septal defect29.7F2, F5, SELP
4bernard-soulier syndrome, type c29.7F2, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
5vascular hemostatic disease29.7F3, F5, MTHFR, SELP
6retinitis29.5F2, F5, MTHFR, SELP
7bleeding disorder, platelet-type, 16, autosomal dominant28.4EGF, F2, F3, F5, GP1BA, GP9
8glanzmann thrombasthenia11.1
9von willebrand's disease10.4
10pyridoxamine 5'-phosphate oxidase deficiency10.3ITGA2B, ITGB3
11thrombocytopenia10.3
12diffuse idiopathic skeletal hyperostosis10.3F2, F3
13relapsing polychondritis10.3F2, F3
14irritable bowel syndrome10.3F2, F3
15fowler's syndrome10.3F2, F3
16barrett's adenocarcinoma10.3F2, F3
17cervical alveolar soft part sarcoma10.3F2, F3
18von willebrand disease, type 110.3F2, F3
19nephropathia epidemica10.2F2, F3
20pulmonary fibrosis, familial10.2F2, MTHFR
21thrombophilia, x-linked, due to factor ix defect10.2EGF, F2, F3
22leukemia10.2
23duodenitis10.2
24gingivitis10.2
25thrombasthenia of glanzmann and naegeli, itga2b-related10.2
26thrombasthenia of glanzmann and naegeli, itgb3-related10.2
27suppurative uveitis10.2F2, F3
28cerebral neuroblastoma10.2F2, F3
29cutis gyrata - acanthosis nigricans - craniosynostosis10.2GP1BA, ITGA2B, ITGB3
30autoimmune disease of endocrine system10.2GP1BA, ITGA2B, ITGB3
31dic in newborn10.2F2, F3
32benign mastocytoma10.1F3, F5
33infiltrating renal pelvis transitional cell carcinoma10.1F2, GP1BA, ITGB3
34acquired hypoprothrombinemia10.1F3, F5
35abducens nerve neoplasm10.1F2, F3
36malignant otitis externa10.1F3, GP1BA, ITGB3
37intracranial structure hemangioma10.1F3, F5
38acquired hemophilia a10.1F3, F5
39greenberg skeletal dysplasia10.1
40atherosclerosis10.1
41hematopoietic stem cell transplantation10.1
42hermansky-pudlak syndrome10.1
43hemarthrosis10.1
44blood coagulation disease10.1
45blood platelet disease10.1
46inherited blood coagulation disease10.1
47purpura10.1
48factor v leiden thrombophilia10.1
49muller barth menger syndrome10.1F5, MTHFR
50female reproductive endometrioid cancer10.1F3, F5

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AbataceptapprovedPhase 1130332348-12-610237
Synonyms:
CTLA4-Ig
CTLA4-IgG4m
 
CTLA4Ig
CTLA4IgG4m
Orencia
2Factor VIII265
3Coagulants983

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
Bone, Bone marrow, Whole blood, Monocytes, Testes, Endothelial, Myeloid

Animal Models for Thrombasthenia or affiliated genes

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MGI Mouse Phenotypes related to Thrombasthenia:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6CD36, EGF, F2, ITGA2B, ITGB3, PTK2
2MP:00053918.4CD36, EGF, F3, ITGB3, MTHFR, SELP
3MP:00028738.0EGF, F2, F3, ITGA2, ITGB3, PSMG1
4MP:00053707.6CD36, F5, ITGB3, PSMG1, PTK2, SELP
5MP:00053877.3CD36, EGF, F2, F3, ITGA2B, ITGB3
6MP:00107716.9EGF, F2, F3, F5, HPSE, ITGA2
7MP:00053846.6CD36, F2, F3, GP1BA, ITGA2, ITGA2B
8MP:00053976.6CD36, F2, F3, GP1BA, HPSE, ITGA2
9MP:00053856.4CD36, F2, F3, F5, HPSE, ITGA2B
10MP:00053786.3CD36, EGF, F2, F3, F5, ITGB3
11MP:00053766.1CD36, F2, F3, F5, GP1BA, ITGA2

Publications for Thrombasthenia

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Articles related to Thrombasthenia:

(show top 50)    (show all 534)
idTitleAuthorsYear
1
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. (25806962)
2015
2
Novel mutations of integrin I+IIb and I^3 genes in Turkish children with Glanzmann's thrombasthenia. (25734216)
2015
3
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. (24829739)
2014
4
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
5
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
6
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
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
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. (18450741)
2008
10
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. (18832906)
2008
11
Stem cell transplantation for children with Glanzmann thrombasthenia. (18205861)
2008
12
Glanzmann thrombasthenia in a neonate. (17277431)
2007
13
Glanzmann's thrombasthenia in two pregnant females. (17013816)
2007
14
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. (16879215)
2006
15
Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia. (16217260)
2005
16
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
17
The use of recombinant factor VIla in a primigravida with Glanzmann's thrombasthenia during delivery. (15493726)
2004
18
Rebuttal: the French Gypsy mutation does not give rise to a particularly mild form of Glazmann's thrombasthenia. (14629489)
2003
19
Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia. (12434904)
2002
20
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
21
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia. (11735106)
2001
22
Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. (11197210)
2000
23
Severe and relapsing upper gastrointestinal bleeding in a patient with Glanzmann's thrombasthenia. (10749344)
2000
24
Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. (9916135)
1999
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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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 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8EGF, ITGA2B, ITGB3
29.8EGF, ITGA2B, ITGB3
39.8GP1BA, GP9
49.8ITGA2, ITGA2B, ITGB3
5
Show member pathways
9.8ITGA2, ITGB3, VTN
69.8ITGA2, ITGB3, VTN
79.6HPSE, ITGA2, ITGA2B
89.6ITGA2, ITGA2B, ITGB3, VTN
99.6ITGA2, ITGA2B, ITGB3, VTN
109.6ITGA2, ITGA2B, ITGB3, VTN
119.5GP1BA, GP9, ITGA2
129.5ITGA2, ITGA2B, PTK2
139.4GP1BA, SELP, VTN
14
VEGF Pathway (Qiagen)
Show member pathways
9.3GP1BA, SELP, VTN
159.2GTF3A, ITGB3, SELP
169.1GP1BA, GP9, ITGA2, ITGA2B, ITGB3
17
Show member pathways
9.0EGF, ITGA2, ITGA2B, ITGB3, PTK2
18
Show member pathways
9.0F2, ITGA2, ITGA2B, ITGB3, PTK2
198.9HPSE, ITGA2, ITGB3, PTK2, VTN
20
Show member pathways
8.9F2, F3, F5, GP1BA, GP9
218.8EGF, ITGA2, ITGA2B, ITGB3, PTK2, VTN
22
Show member pathways
8.8EGF, F2, ITGA2, ITGA2B, ITGB3, PTK2
238.7CD36, F2, GP9, ITGA2, ITGA2B, ITGB3
24
Show member pathways
8.6F2, GP1BA, GP9, ITGA2B, ITGB3, PTK2
258.6CD36, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
26
Show member pathways
8.2CD36, EGF, F3, F5, ITGA2B, ITGB3
27
Show member pathways
8.0CD36, EGF, F2, ITGA2, ITGA2B, ITGB3
28
Show member pathways
7.6CD36, EGF, GP1BA, GP9, ITGA2, ITGA2B
29
Show member pathways
6.5CD36, EGF, F2, F3, F5, GP1BA

GO Terms for genes affiliated with Thrombasthenia

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

idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:007106210.8ITGB3, VTN
2integrin complexGO:000830510.5ITGA2, ITGA2B, ITGB3
3platelet alpha granule membraneGO:00310929.7CD36, ITGA2B, ITGB3, SELP
4external side of plasma membraneGO:00098979.5CD36, ITGA2, ITGA2B, SELP
5cell surfaceGO:00099868.3CD36, F3, GP1BA, ITGA2, ITGA2B, ITGB3
6extracellular spaceGO:00056158.1CD36, EGF, F2, F3, F5, SELP
7plasma membraneGO:00058866.4CD36, EGF, F2, F3, F5, GP1BA

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1mesodermal cell differentiationGO:004833310.7ITGA2, ITGB3
2positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.6ITGB3, VTN
3cell adhesion mediated by integrinGO:003362710.6ITGA2, VTN
4angiogenesis involved in wound healingGO:006005510.5HPSE, ITGB3
5cell-substrate adhesionGO:003158910.5ITGA2, ITGB3
6positive regulation of leukocyte migrationGO:000268710.4ITGA2B, SELP
7positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:200006010.3EGF, PTK2
8blood coagulation, intrinsic pathwayGO:000759710.2F2, GP1BA, GP9
9leukocyte migrationGO:005090010.0F2, ITGB3, SELP
10positive regulation of blood coagulationGO:00301949.9CD36, F2, HPSE
11positive regulation of protein kinase B signalingGO:00518979.8F3, HPSE, PTK2
12positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.8CD36, EGF, ITGB3, VTN
13positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7F2, PTK2, SELP
14cell-matrix adhesionGO:00071609.6HPSE, ITGA2, ITGA2B, ITGB3, VTN
15integrin-mediated signaling pathwayGO:00072299.5ITGA2, ITGA2B, ITGB3, PTK2
16axon guidanceGO:00074119.3EGF, ITGA2, ITGA2B, ITGB3, PTK2
17extracellular matrix organizationGO:00301989.0ITGA2, ITGA2B, ITGB3, PTK2, VTN
18platelet degranulationGO:00025769.0CD36, EGF, F5, ITGA2B, ITGB3, SELP
19cell adhesionGO:00071557.8CD36, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
20platelet activationGO:00301686.7CD36, EGF, F2, F5, GP1BA, GP9
21blood coagulationGO:00075966.4CD36, EGF, F2, F3, F5, GP1BA

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.8ITGA2B, ITGB3, VTN
2thrombospondin receptor activityGO:00700539.6CD36, 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