GT
MCID: GLN003
MIFTS: 80

Glanzmann's Thrombasthenia (GT) malady

Blood diseases, Endocrine diseases categories

Summaries for Glanzmann's Thrombasthenia

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Glanzmann thrombasthenia (gt) is a rare inherited blood clotting disorder that is present at birth. it is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. signs and symptoms vary greatly from person to person. symptoms usually include abnormal bleeding, which can be severe. other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. rarely, internal bleeding and blood in the urine (hematuria) can occur. prolonged untreated or unsuccessfully treated bleeding may be life threatening. this condition is inherited in an autosomal recessive fashion and is caused by mutations in either the itga2b or itgb3 genes. last updated: 9/13/2011

MalaCards: Glanzmann's Thrombasthenia, also known as glanzmann thrombasthenia, is related to breast cancer and colorectal cancer. An important gene associated with Glanzmann's Thrombasthenia is ITGA2B (integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)), and among its related pathways are Platelet Adhesion to exposed collagen and PECAM1 interactions. The compounds estrogen and epinephrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and bone marrow, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Description from OMIM:46 273800

Aliases & Classifications for Glanzmann's Thrombasthenia

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 10DISEASES, 34MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
glanzmann thrombasthenia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

glanzmann's thrombasthenia 8
glanzmann thrombasthenia 9 42 22 46 44 48
thyroid hormone plasma membrane transport defect 60
platelet fibrinogen receptor, deficiency of 42
glanzmann thrombasthenia type a 42
deficiency of gp 2b 3a complex 42
glycoprotein iib/iiia defect 8
diacyclothrombopathia 2b 3a 42
glanzmanns thrombasthenia 10
thrombocytasthenia 8
gt 42


External Ids:

Disease Ontology8 DOID:2219
NCIt39 C61249
OMIM46 273800
ICD10 via Orphanet26 D69.1
SNOMED-CT via Orphanet57 32942005

Related Diseases for Glanzmann's Thrombasthenia

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17GeneCards, 18GeneDecks
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Diseases related to Glanzmann's Thrombasthenia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 748)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.0PECAM1, VTN, PTK2, THBS1, GP1BA, RECK
2colorectal cancer30.9PTK2, THBS1, RAP1A, RECK, PF4, FN1
3coronary artery disease30.9PECAM1, VTN, F2R, GP1BA, F3, RECK
4hypertension30.8FN1
5arthritis30.7PECAM1, VTN, THBS1, FN1, F10
6lung cancer30.7VTN, PTK2, THBS1, FN1
7myocardial infarction30.7PECAM1, F2R, GP1BA, F3, RECK, PF4
8obesity30.7THBS1, F2R
9rheumatoid arthritis30.7PECAM1, VTN, RAP1A, F2R, RECK, PF4
10diabetes mellitus30.6PECAM1, VTN, GP1BA, RECK, PF4, FN1
11bernard-soulier syndrome30.6F2R, GP1BA, RECK, ITGA2, ITGA2B, ITGB3
12asthma30.6VTN, THBS1, F2R, RECK, FN1, F10
13stroke, ischemic30.5F3, PF4
14hemarthrosis30.5F3, F10, F8, F9
15atherosclerosis30.5PECAM1, VTN, PTK2, THBS1, F2R, F3
16hepatocellular carcinoma30.4VTN, PTK2, F2R, RECK, FN1, F10
17cystic fibrosis30.4RECK, FN1, F8, F9
18prostate cancer30.4VTN, PTK2, F2R, RECK, ITGA2
19adenocarcinoma30.4PECAM1, VTN, PTK2, THBS1, RECK, PF4
20lupus erythematosus30.4F3
21squamous cell carcinoma30.4PECAM1, VTN, PTK2, THBS1, RAP1A, F2R
22systemic lupus erythematosus30.4VTN, F3, RECK, F10, F8
23ovarian cancer30.4VTN, PTK2, THBS1, CD9, FN1, ITGA2
24hepatitis c30.3F2R, CD9, F8, F9
25acute myocardial infarction30.3PECAM1, F3, PF4, FN1, F10, ITGA2B
26hepatitis a30.3F8
27myeloid leukemia30.3RAP1A, FN1
28amyloidosis30.2F10, F9
29factor xi deficiency30.2F3, F8, F9
30hepatitis30.2F2R, F10, F8, F9
31cervical cancer30.2PTK2, THBS1
32thrombocytopenia30.2PECAM1, F2R, GP1BA, F3, RECK, PF4
33leukemia30.2PECAM1, PTK2, RAP1A, F2R, RECK, PF4
34multiple sclerosis30.2PECAM1, VTN, F2R
35endometriosis30.2VTN, FN1, ITGB3
36congenital heart defect30.2F2R, F3, PF4, F8
37hepatitis b30.2CD9, FN1, F8, F9
38colon cancer30.2PECAM1, VTN, PTK2, F2R, ITGA2
39melanoma30.1PECAM1, VTN, PTK2, THBS1, RAP1A, F2R
40polycythemia30.1ITGB3
41colon adenocarcinoma30.1PTK2
42hyperhomocysteinemia30.1F8, F9
43myeloma30.1PF4, CD47, CD9, FN1, ITGA2
44pre-eclampsia30.1PECAM1, PTK2, F2R, F3, FN1, F10
45malaria30.1PECAM1, RECK
46adenoma30.1PTK2, THBS1, RECK
47osteoarthritis30.1PECAM1, THBS1, FN1, ITGB3
48multiple myeloma30.1VTN, FN1
49cerebrovascular disease30.0RECK
50liver cirrhosis29.9ITGB3

Graphical network of the top 20 diseases related to Glanzmann's Thrombasthenia:



Diseases related to glanzmann's thrombasthenia

Clinical Features for Glanzmann's Thrombasthenia

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46OMIM
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Clinical features from OMIM:

273800

Clinical synopsis from OMIM:

273800

Drugs & Therapeutics for Glanzmann's Thrombasthenia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Glanzmann's Thrombasthenia

Drug clinical trials:

Search ClinicalTrials for Glanzmann's Thrombasthenia

Search NIH Clinical Center for Glanzmann's Thrombasthenia

Search CenterWatch for Glanzmann's Thrombasthenia

Genetic Tests for Glanzmann's Thrombasthenia

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22GTR
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Genetic tests related to Glanzmann's Thrombasthenia:

id Genetic test Affiliating Genes
1 Glanzmann's Thrombasthenia22

Anatomical Context for Glanzmann's Thrombasthenia

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32MalaCards
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MalaCards organs/tissues related to Glanzmann's Thrombasthenia:

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

Animal Models for Glanzmann's Thrombasthenia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Glanzmann's Thrombasthenia:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3CD47
2MP:000538010.1F2R, F3, ITGA2B
3MP:000200610.1F3, F2R, THBS1, PTK2
4MP:000536910.0THBS1, F3, CD47
5MP:00053899.9F8, ITGB3, ITGA2B, F10, CD9, THBS1
6MP:00107719.8ITGA2, FN1, CD47, RECK, PTK2
7MP:00053709.7F9, ITGB3, RECK, F2R, THBS1, PTK2
8MP:00053849.6FN1, CD47, F3, GP1BA, F2R, RAP1A
9MP:00053909.6FN1, CD9, CD47, PECAM1
10MP:00053858.9F9, ITGB3, ITGA2B, F10, FN1, CD47
11MP:00107688.9F9, F8, ITGB3, F10, FN1, CD47
12MP:00053878.9FN1, ITGA2B, ITGB3, F8, F9, CD9
13MP:00053768.7FN1, F10, ITGA2, ITGA2B, ITGB3, F8
14MP:00053978.5PECAM1, F9, F8, ITGB3, ITGA2B, ITGA2

Publications for Glanzmann's Thrombasthenia

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50PubMed
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Articles related to Glanzmann's Thrombasthenia:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Open aortic valve replacement in a patient with Glanzmann's thrombasthenia: a multidisciplinary strategy to minimize perioperative bleeding. (23710629)
2013
2
Indication for allogeneic stem cell transplantation in Glanzmann's thrombasthenia. (23868573)
2013
3
Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran. (23912132)
2013
4
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? (21557682)
2011
5
Glanzmann's thrombasthenia: an overview. (18930954)
2009
6
Sheehan's syndrome associated with Glanzmann's Thrombasthenia: case report and literature review. (18523914)
2008
7
Management of persistent gastric bleeding in a patient with Glanzmann's thrombasthenia. (18186523)
2008
8
Glanzmann'S thrombasthenia: presentation and management of a rare bleeding disorder. (17462191)
2007
9
Glanzmann's thrombasthenia treatment: a prospective observational registry on the use of recombinant human activated factor VII and other hemostatic agents. (16427383)
2006
10
Thromboelastographic evaluation of recombinant factor VIIa in a child with Glanzmann's thrombasthenia. (16931713)
2006
11
Red blood cell transfusion in patients with type 1 Glanzmann's thrombasthenia. (16194208)
2005
12
A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient. (15590407)
2004
13
Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder. (15461628)
2004
14
Glanzmann's thrombasthenia proposed optimal management during surgery and delivery. (12812388)
2003
15
The successful use of plasma exchange and immunosuppression in the management of acquired Glanzmann's thrombasthenia. (12437677)
2002
16
Severe and relapsing upper gastrointestinal bleeding in a patient with Glanzmann's thrombasthenia. (10749344)
2000
17
Platelet glycoprotein IIb/IIIa receptors and Glanzmann's thrombasthenia. (10712380)
2000
18
Glanzmann's thrombasthenia in pregnancy: a case and review of the literature. (10586983)
1999
19
Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. (9920835)
1999
20
Norethisterone therapy for bleeding due to gastrointestinal telangiectases in Glanzmann's thrombasthenia. (9504647)
1998
21
Rapid heterozygote detection in Glanzmann's thrombasthenia. (9576183)
1998
22
Spontaneous duodenal hematoma in a patient with Glanzmann's thrombasthenia. (9314258)
1997
23
A new variant of Glanzmann's thrombasthenia with defective activation-dependent fibrinogen binding and altered expression of epitopes for several monoclonal antibodies against GP IIb-IIIa. (21043690)
1996
24
An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia. (8111043)
1994
25
Pharmacological blockade of platelet GPIIb/IIIa and the inherited disorders of the platelet GPIIb/IIIa (Glanzmann's thrombasthenia): how safe is this antithrombotic approach for both acute and chronic treatment of thromboembolic disorders? Brief communication. (8261484)
1993
26
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg-->214Trp mutation. (1602006)
1992
27
Antibody removal therapy used successfully at delivery of a pregnant patient with Glanzmann's thrombasthenia and multiple anti-platelet antibodies. (1949709)
1991
28
Normal expression of the adhesive structure Mo-1 on monocytes from patients with Glanzmann's thrombasthenia. (2010702)
1991
29
Carrier detection of Glanzmann's thrombasthenia by Taq I restriction fragment length polymorphism of GPIIIa gene]. (1687449)
1991
30
Glycoprotein Ib polymorphism in a patient with Glanzmann's thrombasthenia type I (case report) (2274925)
1990
31
Glanzmann's thrombasthenia: the spectrum of clinical disease. (2180491)
1990
32
Glanzmann's thrombasthenia and pregnancy. (2082573)
1990
33
Glanzmann's thrombasthenia associated with a transient deficiency of factor XIII. (2588958)
1989
34
Decreased stability and structural heterogeneity of the residual platelet glycoprotein IIb/IIIa complex in a variant of Glanzmann's thrombasthenia. (2611137)
1989
35
Glanzmann's thrombasthenia. (2673430)
1989
36
The use of fluorescence flow cytometry in the characterization of Bernard-Soulier syndrome and Glanzmann's thrombasthenia. (2498181)
1989
37
Expression of the alloantigen Zwa (or P1A1) on human vascular smooth muscle cells and foreskin fibroblasts: a study on normal individuals and a patient with Glanzmann's thrombasthenia. (2473812)
1989
38
Platelet aggregation in whole blood from patients with Glanzmann's thrombasthenia. (3098326)
1987
39
Ristocetin-induced platelet agglutination in four Chinese patients with Glanzmann's thrombasthenia. (4000715)
1985
40
Quantitation of platelet membrane glycoproteins in Glanzmann's thrombasthenia and the Bernard-Soulier syndrome by electroimmunoassay. (6506033)
1984
41
Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia. (7152371)
1982
42
Additional platelet membrane glycoprotein abnormalities in Glanzmann's thrombasthenia: A comparison with normals by high resolution two-dimensional polyacrylamide gel electrophoresis. (6158116)
1980
43
Renal embolisation in Glanzmann's thrombasthenia. (7191759)
1980
44
Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann's thrombasthenia and Bernard-Soulier syndrome. (7354135)
1980
45
Glanzmann's thrombasthenia. Report of two oral surgical cases using a new microfibrillar collagen preparation and EACA for hemostasis. (104220)
1979
46
Deletion of the platelet-specific alloantigen PlA1 from platelets in Glanzmann's thrombasthenia. (566280)
1978
47
Effects of ADP and ATP on bovine fibrinogen- and ristocetin-induced platelet aggregation in Glanzmann's thrombasthenia. (1201247)
1975
48
Platelet shape change: induction by trypsin and release of an acidic macroglycopeptide from washed human platelets and from those of three cases of Glanzmann's thrombasthenia. (4459215)
1974
49
New data on Glanzmann's thrombasthenia. (5554449)
1971
50
Glanzmann's thrombasthenia. (Report of 3 cases). (5270992)
1970

Genetic Variations for Glanzmann's Thrombasthenia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Glanzmann's Thrombasthenia:

62 (show all 61)
id Symbol AA change Variation ID SNP ID
1ITGA2Bp.Gly273AspVAR_003979
2ITGA2Bp.Arg358HisVAR_003980
3ITGA2Bp.Gly449AspVAR_003981
4ITGA2Bp.Gln778ProVAR_003982
5ITGA2Bp.Pro176AlaVAR_009885
6ITGA2Bp.Pro176LeuVAR_009886
7ITGA2Bp.Phe320SerVAR_009887
8ITGA2Bp.Glu355LysVAR_009888
9ITGA2Bp.Leu86ProVAR_030445
10ITGA2Bp.Ala139ValVAR_030446
11ITGA2Bp.Cys161TrpVAR_030447
12ITGA2Bp.Tyr174HisVAR_030448
13ITGA2Bp.Phe202CysVAR_030449
14ITGA2Bp.Thr207IleVAR_030450
15ITGA2Bp.Leu214ProVAR_030451
16ITGA2Bp.Phe222LeuVAR_030452
17ITGA2Bp.Gly267GluVAR_030453
18ITGA2Bp.Val329PheVAR_030454
19ITGA2Bp.Gly380AspVAR_030455
20ITGA2Bp.Ile405ThrVAR_030456
21ITGA2Bp.Gly412ArgVAR_030457
22ITGA2Bp.Ala581AspVAR_030459
23ITGA2Bp.Ile596ThrVAR_030460
24ITGA2Bp.Cys705ArgVAR_030461
25ITGA2Bp.Leu752ValVAR_030462
26ITGA2Bp.Arg755ProVAR_030463
27ITGA2Bp.Leu847ProVAR_030464
28ITGA2Bp.Pro943LeuVAR_030465
29ITGA2Bp.Val982MetVAR_030466
30ITGA2Bp.Arg1026GlnVAR_030468
31ITGA2Bp.Val934PheVAR_069917
32ITGA2Bp.Ser957LeuVAR_069918
33ITGB3p.Asp145TyrVAR_003998
34ITGB3p.Arg240GlnVAR_003999
35ITGB3p.Arg240TrpVAR_004000
36ITGB3p.His306ProVAR_004001rs13306476
37ITGB3p.Cys400TyrVAR_004002
38ITGB3p.Cys586PheVAR_004003
39ITGB3p.Gly598SerVAR_004004
40ITGB3p.Ser778ProVAR_004005
41ITGB3p.Leu143TrpVAR_010649
42ITGB3p.Ser188LeuVAR_010651
43ITGB3p.Cys568ArgVAR_010671
44ITGB3p.Gly605SerVAR_010672
45ITGB3p.Arg119TrpVAR_030473
46ITGB3p.Tyr141CysVAR_030474
47ITGB3p.Asp145AsnVAR_030475
48ITGB3p.Met150ValVAR_030476
49ITGB3p.Leu222ProVAR_030478
50ITGB3p.Arg242GlnVAR_030479
51ITGB3p.Asp243ValVAR_030480
52ITGB3p.Leu288ProVAR_030481
53ITGB3p.Met321LeuVAR_030482
54ITGB3p.Ile330AsnVAR_030483
55ITGB3p.Cys532TyrVAR_030484
56ITGB3p.Cys586ArgVAR_030485
57ITGB3p.Cys601ArgVAR_030486
58ITGB3p.Cys64TyrVAR_069920
59ITGB3p.Met144ArgVAR_069921
60ITGB3p.Gly247AspVAR_069922
61ITGB3p.Lys279MetVAR_069923

Expression for genes affiliated with Glanzmann's Thrombasthenia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glanzmann's Thrombasthenia

Search GEO for disease gene expression data for Glanzmann's Thrombasthenia.

Pathways for genes affiliated with Glanzmann's Thrombasthenia

About this section
Sources:
53Reactome, 51QIAGEN, 52R&D Systems, 37NCBI BioSystems Database, 4Cell Signaling Technology, 49PharmGKB, 29KEGG, 12EMD Millipore
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Pathways related to Glanzmann's Thrombasthenia according to GeneCards/GeneDecks:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3GP1BA, ITGA2
210.3PECAM1, ITGB3
3
Hide members
10.2VTN, PTK2
410.2ITGB3, ITGA2B, ITGA2
5
Hide members
10.1ITGB3, FN1, VTN
610.1FN1, ITGA2, ITGA2B
710.1VTN, GP1BA, FN1
810.1ITGB3, RECK, PECAM1
910.1FN1, THBS1, VTN
10
Hide members
10.1F9, F10, F3
1110.0ITGB3, ITGA2B, ITGA2, F2R
12
Hide members
10.0ITGB3, ITGA2B, ITGA2, PTK2
13
Hide members
10.0ITGB3, ITGA2B, ITGA2, PTK2
1410.0VTN, CD47, FN1, ITGB3
15
Hide members
10.0RAP1A, FN1, ITGA2B, ITGB3
169.9PECAM1, CD47, FN1, ITGB3
179.9ITGA2B, ITGA2, FN1, PTK2
189.9PTK2, RAP1A, ITGA2B, ITGB3
199.9VTN, FN1, ITGA2, ITGA2B, ITGB3
20
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.9ITGB3, ITGA2, FN1, VTN, PECAM1
219.9ITGB3, ITGA2B, ITGA2, CD9, GP1BA
22
Development Endothelin-1/EDNRA signaling
Hide members
9.9ITGA2, FN1, RAP1A, PTK2
23
Hide members
9.8F9, F8, F10, F3, GP1BA
24
Hide members
9.8F9, F8, F10, F3, F2R
25
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.8ITGB3, ITGA2, FN1, PTK2, VTN
26
Hide members
9.8PTK2, PF4, ITGA2, ITGA2B, ITGB3
27
Hide members
9.7ITGB3, ITGA2B, ITGA2, FN1, F2R, PTK2
289.7ITGB3, ITGA2, FN1, THBS1, PTK2, VTN
29
Hide members
9.7ITGB3, ITGA2B, FN1, GP1BA, RAP1A, PTK2
30
Hide members
9.7ITGB3, ITGA2B, ITGA2, FN1, RAP1A, PTK2
31
Hide members
9.6ITGB3, ITGA2B, ITGA2, F2R, RAP1A, PTK2
32
Hide members
9.5ITGB3, ITGA2B, ITGA2, FN1, F2R, RAP1A
33
Hide members
9.5F3, GP1BA, F2R, RAP1A, THBS1, PTK2
34
Hide members
9.5ITGB3, ITGA2B, ITGA2, FN1, PF4, RAP1A
359.5ITGB3, ITGA2B, ITGA2, FN1, F2R, THBS1
36
Hide members
9.4ITGB3, ITGA2B, ITGA2, FN1, RAP1A, THBS1
37
Hide members
9.4F8, ITGB3, ITGA2B, FN1, CD9, PF4
38
Hide members
9.2VTN, THBS1, F3, FN1, F10, ITGA2
39
Hide members
9.2PECAM1, ITGB3, ITGA2B, ITGA2, FN1, CD47
40
Hide members
9.1F9, F8, ITGB3, ITGA2B, ITGA2, F10
41
Hide members
9.0ITGB3, ITGA2B, ITGA2, FN1, PF4, F2R
42
Hide members
8.8ITGB3, ITGA2B, PECAM1, VTN, PTK2, THBS1

Compounds for genes affiliated with Glanzmann's Thrombasthenia

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Glanzmann's Thrombasthenia according to GeneCards/GeneDecks:

(show top 50)    (show all 186)
idCompoundScoreTop Affiliating Genes
1estrogen4410.4F8, F9
2epinephrine44 11 2412.3F8, PF4, F3, GP1BA
3danaparoid4410.2TNXA, F10, PF4, F3
4kaolin4410.2F8, F10, F3, F9
5cacl24410.2F10, F8, F3, THBS1, F9
6fondaparinux4410.1F9, PF4, TNXA, F10, F3
7grgds4410.1F3, FN1, PTK2, THBS1, VTN
8bivalirudin44 1111.1F3, F2R, TNXA, F10
9adp44 28 2412.1ITGA2B, ITGA2, CD9, PF4, F2R, PECAM1
10gamma-carboxyglutamic acid4410.1PF4, F10, F3, TNXA, F9
11kininogen4410.0VTN, GP1BA, F3, PF4, F9, THBS1
12ristocetin4410.0F2R, GP1BA, F3, RECK, ITGB3, F8
13clopidogrel49 44 11 2413.0ITGA2, F10, ITGB3, F3, PECAM1, TNXA
14grgdsp4410.0FN1, THBS1, VTN, ITGA2
15glucose4410.0F2R, PF4, RECK, GP1BA, THBS1, PTK2
16aspartate4410.0F8, F10, F2R, VTN
17abciximab44 1110.9VTN, F2R, GP1BA, F3, PF4, F10
18tirofiban44 1110.9ITGB3, ITGA2B, ITGA2, F10, VTN, F2R
19dermatan sulfate449.9TNXA, F9, F10, FN1, PF4, F3
20aprotinin44 1110.9F3, F9, F10, FN1, PF4, RECK
21cytochalasin d44 5910.9PECAM1, GP1BA, F2R, THBS1, PTK2, VTN
22thromboxane a244 2410.9F8, ITGA2, PF4, F2R, PTK2, CD9
23polyethylene glycol449.8VTN, F10, FN1, CD9, PF4, F8
24dextran sulfate449.8VTN, THBS1, F3, PF4, CD9, FN1
25phospholipid449.8F8, TNXA, F9, ITGA2, F10, F3
26polyacrylamide449.7ITGA2, F9, TNXA, F8, FN1, RECK
27hirudin449.7THBS1, F2R, GP1BA, F3, PF4, F10
28matrigel449.7ITGA2, PECAM1, VTN, PTK2, THBS1, FN1
29phosphatidylserine44 28 1111.6GP1BA, F3, RECK, CD47, F10, PTK2
30ly294002449.5VTN, PTK2, RAP1A, F2R, THBS1, CD9
31serine449.4F10, FN1, CD47, GP1BA, THBS1, PTK2
32latex449.4F2R, GP1BA, PF4, CD9, FN1, ITGA2
33prostacyclin449.4PECAM1, VTN, PTK2, THBS1, RAP1A, F2R
34lysine449.4F8, F9, VTN, TNXA, RECK, PF4
35vegf449.4PF4, RECK, F3, F2R, RAP1A, THBS1
36polysaccharide449.4TNXA, F8, ITGA2, F10, FN1, CD9
3712-o-tetradecanoylphorbol 13-acetate449.3PF4, CD9, ITGA2, ITGA2B, PTK2, RAP1A
38phosphatidylinositol449.3THBS1, ITGA2, PTK2, CD9, CD47, GP1BA
39heparin44 28 11 2412.3F9, F8, ITGA2, F10, FN1, PF4
40cholesterol44 28 11 2412.3PTK2, F8, F9, CD47, PF4, RECK
41methionine449.3F9, RECK, ITGA2, THBS1, FN1, F8
42aspirin44 49 28 2412.2TNXA, PECAM1, VTN, F8, ITGB3, ITGA2
43lipid449.2RAP1A, THBS1, RECK, PF4, VTN, ITGA2
44retinoic acid44 2410.2PTK2, CD47, CD9, ITGA2, FN1, F3
45arginine449.1VTN, RAP1A, F10, F2R, RECK, PTK2
46alanine449.0ITGB3, F10, FN1, CD9, PF4, F3
47cysteine448.8F9, VTN, PECAM1, PTK2, THBS1, F2R
48tyrosine448.6RAP1A, F9, VTN, PTK2, THBS1, CD9
49calcium44 49 11 2411.4F9, TNXA, PTK2, VTN, PECAM1, THBS1
50fibrinogen448.4F9, TNXA, RECK, PF4, GP1BA, CD47

GO Terms for genes affiliated with Glanzmann's Thrombasthenia

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Sources:
16Gene Ontology
See all sources

Cellular components related to Glanzmann's Thrombasthenia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:07106210.4VTN, ITGB3
2integrin complexGO:00830510.3ITGB3, ITGA2B, ITGA2
3platelet alpha granule membraneGO:03109210.2PECAM1, CD9, ITGA2B, ITGB3
4intrinsic to external side of plasma membraneGO:03123310.2F3, F10
5platelet alpha granule lumenGO:03109310.1F8, FN1, PF4, THBS1
6extracellular matrixGO:03101210.1FN1, F3, THBS1, VTN
7fibrinogen complexGO:0055779.9THBS1, FN1
8external side of plasma membraneGO:0098979.9ITGA2B, ITGA2, CD9, THBS1
9extracellular spaceGO:0056159.7F8, FN1, PF4, F3, THBS1, VTN
10integral to plasma membraneGO:0058879.7ITGA2B, CD9, CD47, GP1BA, F2R, ITGB3
11extracellular regionGO:0055769.5F9, F8, F10, FN1, PF4, F2R
12plasma membraneGO:0058868.9F10, ITGA2, ITGA2B, ITGB3, F8, F9

Biological processes related to Glanzmann's Thrombasthenia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.3F3, F10, F9
2cell-substrate junction assemblyGO:00704410.3FN1, ITGB3
3regulation of blood coagulationGO:03019310.3F2R, GP1BA
4blood coagulation, intrinsic pathwayGO:00759710.2F9, F8, F10, GP1BA
5cell-matrix adhesionGO:00716010.2ITGB3, ITGA2B, ITGA2, VTN
6positive regulation of smooth muscle cell migrationGO:01491110.2PTK2, VTN
7positive regulation of blood coagulationGO:03019410.1THBS1, F2R
8positive regulation of protein kinase B signaling cascadeGO:05189710.1PTK2, THBS1, F3, F10
9leukocyte migrationGO:05090010.1ITGB3, FN1, CD47, PECAM1
10integrin-mediated signaling pathwayGO:00722910.0ITGB3, ITGA2B, ITGA2, CD47, PTK2
11positive regulation of cell migrationGO:03033510.0F10, F3, F2R, THBS1, PTK2
12peptidyl-glutamic acid carboxylationGO:0171879.9F9, F10
13extracellular matrix organizationGO:0301989.7ITGB3, ITGA2B, ITGA2, FN1, RECK, THBS1
14platelet degranulationGO:0025769.7F8, ITGB3, ITGA2B, FN1, CD9, PF4
15cell adhesionGO:0071559.4F8, ITGB3, ITGA2B, ITGA2, FN1, CD9
16platelet activationGO:0301689.1F8, PECAM1, PTK2, THBS1, RAP1A, F2R
17blood coagulationGO:0075968.5F9, F8, ITGB3, ITGA2B, PECAM1, PTK2

Molecular functions related to Glanzmann's Thrombasthenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:01505710.3F2R, GP1BA
2integrin bindingGO:0051789.8CD9, THBS1, PTK2, VTN
3heparin bindingGO:0082019.6VTN, THBS1, PF4, FN1
4protein bindingGO:0055158.2PECAM1, F8, ITGB3, ITGA2B, ITGA2, F10

Products for genes affiliated with Glanzmann's Thrombasthenia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glanzmann's Thrombasthenia

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet