MCID: THR035
MIFTS: 42

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 osteopetrosis. 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 heart, breast 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 166)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c29.8F2, GP9, ITGA2, ITGA2B, ITGB3
2osteopetrosis29.7F2, F5, MTHFR
3bleeding disorder, platelet-type, 16, autosomal dominant28.7EGF, F2, F3, F5, GP9, ITGA2
4glanzmann thrombasthenia12.5
5thrombasthenia of glanzmann and naegeli, itga2b-related11.9
6thrombasthenia of glanzmann and naegeli, itgb3-related11.9
7bleeding disorder, platelet-type, 1711.0
8schlegelberger grote syndrome10.9
9pyridoxamine 5'-phosphate oxidase deficiency10.8ITGA2B, ITGB3
10short stature due to primary acid-labile subunit deficiency10.7ITGA2B, ITGB3
11central nervous system osteosarcoma10.6F2, F3
12esophagus melanoma10.6F2, F3
13epiglottitis10.6F2, F3
14cyclothymic disorder10.6F2, F3
15corneal argyrosis10.6F2, ITGA2B
16fowler's syndrome10.6F2, F3
17von willibrand disease, type 310.6F2, F3
18vaginal villous adenoma10.6F2, F3
19cavernous hemangioma of colon10.6F2, F3
20silo filler's disease10.6F2, F3
21abducens nerve neoplasm10.6F2, F3
22fetal antihypertensive drugs syndrome10.5ITGA2, ITGA2B, ITGB3
23glossopharyngeal nerve neoplasm10.5F3, ITGA2B
24hypertrichosis10.5F2, F3
25pulmonary fibrosis, familial10.5F2, MTHFR
26microcytic anemia10.5F2, F3
27splenic abscess10.5F2, F3
28learning disability10.5ITGA2B, ITGB3
29skull base meningioma10.5F2, F3
30ischemic optic neuropathy10.5F3, ITGB3
31tall stature-scoliosis-macrodactyly of the great toes syndrome10.5F2, F5
32autoimmune disease of cardiovascular system10.5ITGA2B, ITGB3
33acquired thrombocytopenia10.5F2, F3, ITGA2B
34kidney sarcoma10.5F2, F3
35internuclear ophthalmoplegia10.4F2, F5
36herpes gestationis10.4F2, F3, VTN
37microscopic colitis10.4F2, F5
38thrombophilia due to thrombin defect10.4F2, F5
39nephropathia epidemica10.4F2, F3
40cerebrovascular disease10.4F2, F5
41causalgia10.4ITGA2B, ITGB3, MTHFR
42benign epilepsy with centrotemporal spikes10.4F3, F5
43renovascular hypertension10.4GP9, ITGA2, ITGA2B
44thrombophilia, x-linked, due to factor ix defect10.4EGF, F2, F3
45dysthymic disorder10.4F2, F5
46west nile encephalitis10.4F2, F5
47sertoli cell tumor10.3F3, F5
48amelia cleft lip palate hydrocephalus iris coloboma10.3F5, MTHFR
49muller barth menger syndrome10.3F5, MTHFR
50azygos continuation of the inferior vena cava10.3F5, MTHFR

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
Heart, Breast, Lung, Prostate, Colon, Monocytes, Endothelial

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 546)
idTitleAuthorsYear
1
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. (26452979)
2016
2
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
3
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. (25806962)
2015
4
Novel mutations of integrin I+IIb and I^3 genes in Turkish children with Glanzmann's thrombasthenia. (25734216)
2015
5
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. (24829739)
2014
6
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
7
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
8
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
9
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
10
Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations. (19245802)
2009
11
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. (18450741)
2008
12
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. (18832906)
2008
13
Stem cell transplantation for children with Glanzmann thrombasthenia. (18205861)
2008
14
Glanzmann thrombasthenia in a neonate. (17277431)
2007
15
Glanzmann's thrombasthenia in two pregnant females. (17013816)
2007
16
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. (16879215)
2006
17
Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia. (16217260)
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
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
Thrombasthenia. (5542851)
1971
49
Glanzmann's thrombasthenia and pregnancy. (5461433)
1970
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
69.7ITGA2, ITGA2B, ITGB3
7
Show member pathways
9.7ITGA2, 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
9.1EGF, ITGB3, PTK2, VTN
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