MCID: THR035
MIFTS: 41

Thrombasthenia malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Thrombasthenia

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Aliases & Descriptions for Thrombasthenia:

Name: Thrombasthenia 46 66

Classifications:



Summaries for Thrombasthenia

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MalaCards based summary: Thrombasthenia is related to type 2n von willebrand disease and bernard-soulier syndrome, type c. An important gene associated with Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), 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 158)
idRelated DiseaseScoreTop Affiliating Genes
1type 2n von willebrand disease29.7GP1BA, SELP
2bernard-soulier syndrome, type c29.4F2, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
3glanzmann thrombasthenia12.5
4thrombasthenia of glanzmann and naegeli, itga2b-related12.0
5thrombasthenia of glanzmann and naegeli, itgb3-related12.0
6bleeding disorder, platelet-type, 1711.1
7bleeding disorder, platelet-type, 16, autosomal dominant11.0
8schlegelberger grote syndrome10.9
9interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.8ITGA2B, ITGB3
10lower urinary tract calculus10.7F2, ITGA2
11rasa1-related disorders10.7F2, MTHFR
12michels caskey syndrome10.7F5, MTHFR
13congenital stenosis of the inferior vena cava10.7F5, MTHFR
14typhoid fever10.7F2, MTHFR
15familial glomangioma10.6F2, F3
16ameloblastic carcinoma10.6F5, MTHFR
17ariboflavinosis10.6F2, F3
18myiasis10.6F2, F3
19cavernous hemangioma of face10.6F2, F3
20collagenous colitis10.6F2, F5
21marek disease10.6F2, F3
22ovarian gonadoblastoma10.6F2, F3
23pregnancy loss, recurrent 110.6F5, MTHFR
24cerebral angioma10.6F2, F3
25hypertensive heart disease10.5F2, MTHFR
26bartholin's gland adenoma10.5F2, F5
27acquired fructose intolerance10.5F3, F5
28subcortical arteriosclerotic encephalopathy10.5F2, F5, MTHFR
29von willibrand disease, type 310.5F2, F3
30unicentric castleman disease10.5F2, F5, MTHFR
31thyroid hyalinizing trabecular adenoma10.5F2, F5, MTHFR
32hepatic fibrosis renal cysts mental retardation10.5F3, F5
33brill-zinsser disease10.5F2, F3
34homocystinuria due to defect in methylation cbl g10.5F2, F5, MTHFR
35left-right axis malformations10.5F2, F5, MTHFR
36primary pigmented nodular adrenocortical disease10.5F2, F5, MTHFR
37sacrococcygeal teratoma10.5F2, ITGA2, MTHFR
38polyhydramnios10.5F2, F5, MTHFR
39epididymo-orchitis10.5F2, F3
40fasciitis10.5F2, ITGA2
41thrombophilia due to thrombin defect10.5F2, F5
42budd-chiari syndrome10.5F2, F5, MTHFR
43functional colonic disease10.5F2, F5, MTHFR
44thrombophilia10.5F2, F5, MTHFR
45biermer's disease10.5F3, F5
46noma10.5F2, F5, MTHFR
47exophthalmic ophthalmoplegia10.5F2, F5, MTHFR
48factor x deficiency10.5EGF, F2, F3
49classic congenital lipoid adrenal hyperplasia due to star deficency10.4F2, F3, F5
50scapuloperoneal myopathy, x-linked dominant10.4EGF, F2, F3

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
Mycophenolic acidPhase 191924280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
2
Mycophenolate mofetilPhase 1919128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
3
AbataceptPhase 1188332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
4
Alefacept40222535-22-0
Synonyms:
 
ASP0485

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male SubjectsCompletedNCT01561417Phase 1
2BMT Abatacept 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

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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:

34
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:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3CD36, EGF, F2, ITGA2B, ITGB3, PTK2
2MP:00053918.2CD36, EGF, F3, ITGB3, MTHFR, SELP
3MP:00053708.0CD36, F5, ITGB3, PSMG1, PTK2, SELP
4MP:00028737.7EGF, F2, F3, ITGA2, ITGB3, PSMG1
5MP:00053877.3CD36, EGF, F2, F3, HPSE, ITGA2B
6MP:00107717.1EGF, F2, F3, F5, HPSE, ITGA2
7MP:00036316.8CD36, F2, F3, F5, ITGB3, MTHFR
8MP:00053846.4CD36, F3, GP1BA, HPSE, ITGA2, ITGA2B
9MP:00053856.3CD36, F2, F3, F5, HPSE, ITGA2B
10MP:00053786.2CD36, EGF, F2, F3, F5, ITGB3
11MP:00053976.1CD36, F2, F3, GP1BA, GP9, HPSE
12MP:00053766.0CD36, F2, F3, F5, GP1BA, ITGA2

Publications for Thrombasthenia

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Articles related to Thrombasthenia:

(show top 50)    (show all 551)
idTitleAuthorsYear
1
Surgical procedures in patients with Glanzmann's thrombasthenia: case series and literature review. (27273143)
2016
2
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
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
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. (24342105)
2013
6
A novel ELISA for diagnosis of Glanzmann's thrombasthenia and the heterozygote carriers. (22183252)
2012
7
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
8
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? (21557682)
2011
9
Formation of obstructing blood clot in the ureter in a patient with Glanzmann's thrombasthenia. (21885955)
2011
10
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report. (20736850)
2010
11
Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations. (19245802)
2009
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
Monitoring survival and function of transfused platelets in Glanzmann thrombasthenia by flow cytometry and thrombelastography. (16907879)
2006
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
Rebuttal: the French Gypsy mutation does not give rise to a particularly mild form of Glazmann's thrombasthenia. (14629489)
2003
18
Gene therapy for platelet disorders: studies with Glanzmann's thrombasthenia. (14629461)
2003
19
A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. (12181054)
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
Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia. (11493452)
2001
23
Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. (11197210)
2000
24
Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes. (9493569)
1998
25
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia. (9450787)
1998
26
Norethisterone therapy for bleeding due to gastrointestinal telangiectases in Glanzmann's thrombasthenia. (9504647)
1998
27
GLANZMANN's THROMBASTHENIA-SPECTRUM OF CLINICAL PRESENTATION ON SAUDI PATIENTS IN THE EASTERN PROVINCE. (23008567)
1997
28
A mutant (Arg327-->His) GPIIb associated to thrombasthenia exerts a dominant negative effect in stably transfected CHO cells. (8883261)
1996
29
Hepatic haematoma related to Glanzmann thrombasthenia in a newborn infant. (8616139)
1996
30
Periodontal management of Glanzmann's thrombasthenia: report of 3 cases. (8866321)
1996
31
Thrombasthenia--a rare cause of Sheehan's syndrome. (7604695)
1995
32
Adenine nucleotide binding and photoincorporation in Glanzmann's thrombasthenia platelets. (7794942)
1995
33
Glanzmann's thrombasthenia: the use of autologous fibrin glue in tooth extractions. (7608371)
1995
34
Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)
1993
35
Delivery of infants with Glanzmann thrombasthenia and subsequent blood transfusion requirements: a follow-up of 39 patients. (1566741)
1992
36
Antibody removal therapy used successfully at delivery of a pregnant patient with Glanzmann's thrombasthenia and multiple anti-platelet antibodies. (1949709)
1991
37
Thrombasthenia with an abnormal platelet membrane glycoprotein IIb of different molecular weight. (3355897)
1988
38
Limited septoplasty as treatment for recurrent epistaxis in a child with Glanzmann's thrombasthenia. (3821355)
1987
39
Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations of Israel: comparison of techniques for carrier detection. (2938617)
1986
40
A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel. (6531749)
1984
41
Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia. (7152371)
1982
42
Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann's thrombasthenia type I and type II. (6454435)
1981
43
Platelet membrane glycoproteins in thrombasthenia, Bernard-Soulier syndrome, and storage pool disease. (429863)
1979
44
Deletion of the platelet-specific alloantigen PlA1 from platelets in Glanzmann's thrombasthenia. (566280)
1978
45
Platelet membrane defects in Glanzmann's thrombasthenia. Evidence for decreased amounts of two major glycoproteins. (70433)
1977
46
Transient thrombasthenia in a patient with tuberculosis. (4453925)
1974
47
Suspected thrombasthenia in a shetland sheepdog. (4428600)
1974
48
Thrombasthenia. (5542851)
1971
49
Glanzmann's thrombasthenia and pregnancy. (5461433)
1970
50
Thrombasthenia: a study of two siblings. (5706368)
1968

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 30)
idSuper pathwaysScoreTop Affiliating Genes
19.8EGF, ITGA2B, ITGB3
29.8EGF, ITGA2B, ITGB3
3
Show member pathways
9.8ITGA2, ITGA2B, ITGB3
4
Show member pathways
9.8ITGA2, ITGB3, VTN
59.8ITGA2, ITGB3, VTN
69.6GP1BA, GP9
79.6ITGA2, ITGA2B, ITGB3, VTN
89.6ITGA2, ITGA2B, ITGB3, VTN
99.6HPSE, ITGA2, ITGA2B
10
Show member pathways
9.4F2, F3, F5, VTN
119.4GP1BA, GP9, ITGA2
129.3GP1BA, SELP, VTN
139.2GTF3A, ITGB3, SELP
149.2ITGA2, ITGA2B, PTK2
159.0GP1BA, GP9, ITGA2, ITGA2B, ITGB3
168.9CD36, GP1BA, ITGA2, ITGA2B, ITGB3
178.9CD36, F2, GP9, ITGA2, ITGA2B, ITGB3
18
Show member pathways
8.8F2, F3, F5, GP1BA, GP9
19
Show member pathways
8.8F2, ITGA2, ITGA2B, ITGB3, PTK2
208.7EGF, ITGA2, ITGA2B, ITGB3, PTK2
21
Show member pathways
8.7EGF, ITGA2, ITGA2B, ITGB3, PTK2
228.6CD36, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
23
Show member pathways
8.5EGF, ITGA2, ITGA2B, ITGB3, PTK2, VTN
248.5EGF, ITGA2, ITGA2B, ITGB3, PTK2, VTN
25
Show member pathways
8.5EGF, F2, ITGA2, ITGA2B, ITGB3, PTK2
268.5HPSE, ITGA2, ITGB3, PTK2, VTN
27
Show member pathways
8.4CD36, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
28
Show member pathways
8.2F2, GP1BA, GP9, ITGA2B, ITGB3, PTK2
29
Show member pathways
7.9CD36, EGF, F2, ITGA2, ITGA2B, ITGB3
30
Show member pathways
6.3CD36, 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:000830510.6ITGA2, ITGA2B, ITGB3
3platelet alpha granule membraneGO:00310929.9CD36, ITGA2B, ITGB3, SELP
4external side of plasma membraneGO:00098979.7CD36, ITGA2, ITGA2B, SELP
5cell surfaceGO:00099868.7CD36, F3, GP1BA, ITGA2, ITGA2B, ITGB3
6extracellular spaceGO:00056158.5CD36, EGF, F2, F3, F5, SELP
7plasma membraneGO:00058866.3CD36, EGF, F2, F3, F5, GP1BA

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.7ITGB3, VTN
2mesodermal cell differentiationGO:004833310.6ITGA2, ITGB3
3cell adhesion mediated by integrinGO:003362710.5ITGA2, VTN
4cell-substrate adhesionGO:003158910.5ITGA2, ITGB3
5positive regulation of positive chemotaxisGO:005092710.5F3, ITGA2
6positive regulation of phagocytosis, engulfmentGO:006010010.4CD36, ITGA2
7angiogenesis involved in wound healingGO:006005510.3HPSE, ITGB3
8positive regulation of smooth muscle cell migrationGO:001491110.3F3, ITGA2, VTN
9positive regulation of leukocyte migrationGO:000268710.2ITGA2, ITGA2B, SELP
10platelet aggregationGO:007052710.0GP1BA, ITGA2B, ITGB3
11blood coagulation, intrinsic pathwayGO:000759710.0F2, GP1BA, GP9
12positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.9CD36, EGF, ITGB3, VTN
13positive regulation of blood coagulationGO:00301949.7CD36, F2, HPSE
14positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:20000609.7EGF, PTK2
15leukocyte migrationGO:00509009.6F2, ITGB3, SELP
16wound healingGO:00420609.6HPSE, ITGA2, ITGB3
17cell-matrix adhesionGO:00071609.6HPSE, ITGA2, ITGA2B, ITGB3, VTN
18positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4F2, PTK2, SELP
19positive regulation of protein kinase B signalingGO:00518979.3F3, HPSE, PTK2
20platelet activationGO:00301689.2F2, F5, GP1BA, GP9, ITGB3
21platelet degranulationGO:00025769.2CD36, EGF, F5, ITGA2B, ITGB3, SELP
22integrin-mediated signaling pathwayGO:00072298.7ITGA2, ITGA2B, ITGB3, PTK2
23extracellular matrix organizationGO:00301988.6HPSE, ITGA2, ITGA2B, ITGB3, PTK2, VTN
24cell adhesionGO:00071558.0CD36, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
25blood coagulationGO:00075967.9CD36, F2, F3, F5, GP1BA, GP9

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

idNameGO IDScoreTop Affiliating Genes
1thrombospondin receptor activityGO:007005310.5CD36, F2
2extracellular matrix bindingGO:005084010.3ITGA2B, ITGB3, VTN
3protein bindingGO:00055154.8CD36, EGF, F2, F3, F5, GP1BA

Sources for Thrombasthenia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet