GT
MCID: GLN003
MIFTS: 68

Glanzmann's Thrombasthenia (GT) malady

Endocrine, Blood categories

Summaries for Glanzmann's Thrombasthenia

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 colorectal cancer and coronary artery disease,. 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 skin, bone marrow and whole blood, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Description from OMIM:47 273800

Aliases & Classifications for Glanzmann's Thrombasthenia

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 61UMLS, 10DISEASES, 35MeSH, 57SNOMED-CT, 40NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

glanzmann's thrombasthenia 8
glanzmann thrombasthenia 9 43 22 47 45
thyroid hormone plasma membrane transport defect 61
platelet fibrinogen receptor, deficiency of 43
glanzmann thrombasthenia type a 43
deficiency of gp 2b 3a complex 43
glycoprotein iib/iiia defect 8
diacyclothrombopathia 2b 3a 43
glanzmanns thrombasthenia 10
thrombocytasthenia 8
gt 43


External Ids:

Disease Ontology8 DOID:2219
NCIt40 C61249
OMIM47 273800

Related Diseases for Glanzmann's Thrombasthenia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 894)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.9PTK2, THBS1, RAP1A, RECK, PF4, FN1
2coronary artery disease,30.9PECAM1, VTN, F2R, GP1BA, F3, RECK
3arthritis30.8PECAM1, VTN, THBS1, FN1, F10
4bernard-soulier syndrome30.6F2R, GP1BA, RECK, ITGA2, ITGA2B, ITGB3
5asthma30.6VTN, THBS1, F2R, RECK, FN1, F10
6hemarthrosis30.5F3, F10, F8, F9
7stroke, ischemic30.5F3, PF4
8atherosclerosis30.5PECAM1, VTN, PTK2, THBS1, F2R, F3
9coronary heart disease30.5PECAM1, THBS1, F2R, GP1BA, PF4, F10
10cystic fibrosis30.4RECK, FN1, F8, F9
11adenocarcinoma30.4PECAM1, VTN, PTK2, THBS1, RECK, PF4
12squamous cell carcinoma30.4PECAM1, VTN, PTK2, THBS1, RAP1A, F2R
13systemic lupus erythematosus30.4VTN, F3, RECK, F10, F8
14venous thrombosis30.4F2R, F3, PF4, F10, F8, TNXA
15thromboembolism30.4F2R, F3, PF4, F10, ITGA2, F8
16hypercholesterolemia30.4F10, F8, F9
17hepatitis c30.4F2R, CD9, F8, F9
18amyloidosis30.3F10, F9
19acute myocardial infarction30.3PECAM1, F3, PF4, FN1, F10, ITGA2B
20thrombocytopenia30.3PECAM1, F2R, GP1BA, F3, RECK, PF4
21hepatitis a30.2F8
22sepsis30.2VTN, F2R, GP1BA, F3, RECK, CD9
23hyperhomocysteinemia30.1F8, F9
24adenoma30.1PTK2, THBS1, RECK
25protein c deficiency30.1F9
26oral cancer30.1ITGA2
27osteoarthritis30.1PECAM1, THBS1, FN1, ITGB3
28protein s deficiency30.0F3, F8
29pregnancy loss30.0F3, F10, F8
30polycythemia vera29.9PF4, ITGB3
31sickle cell disease29.9THBS1, PF4, F9
32afibrinogenemia29.9F3, F10, F8
33astrocytoma29.8VTN, PTK2, THBS1, RAP1A, F2R, RECK
34thrombocytosis29.7GP1BA, F3, PF4, F10
35deficiency anemia29.7F2R, F3, FN1, F9
36antiphospholipid syndrome29.7F3, PF4, F10, F8, TNXA
37nephritis29.7VTN, FN1
38wiskott-aldrich syndrome29.5RECK
39factor xii deficiency29.5F3, F9
40proliferative diabetic retinopathy29.5VTN, THBS1
41autoimmune thrombocytopenic purpura29.5GP1BA, ITGB3, F8
42myelodysplastic syndromes29.5RAP1A, GP1BA
43factor x deficiency29.5F3, F10, F9
44factor xi deficiency29.5F3, F8, F9
45stomach cancer29.5VTN, THBS1, RECK, CD9, ITGA2
46hepatitis b29.5CD9, FN1, F8, F9
47vascular disease29.5PECAM1, VTN, F2R, GP1BA, F3, RECK
48thrombophilia29.5F2R, F3, PF4, F10, F8, TNXA
49ipex syndrome29.5VTN, F2R, GP1BA, RECK, CD9, FN1
50cadasil29.5PECAM1, THBS1, F2R, GP1BA, F3, PF4

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



Diseases related to glanzmann's thrombasthenia

Clinical Features for Glanzmann's Thrombasthenia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

273800

Clinical synopsis from OMIM:

273800

Drugs & Therapeutics for Glanzmann's Thrombasthenia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Glanzmann's Thrombasthenia:

id Genetic test Affiliating Genes
1 Glanzmann's Thrombasthenia22

Anatomical Context for Glanzmann's Thrombasthenia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Glanzmann's Thrombasthenia:

33
Skin, Bone marrow, Whole blood, Heart, Smooth muscle, Thyroid, Myeloid, Monocytes, B cells, Endothelial

Animal Models for Glanzmann's Thrombasthenia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Glanzmann's Thrombasthenia

Sources:
51PubMed
See all sources

Articles related to Glanzmann's Thrombasthenia:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
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
2
Successful in vitro fertilization and pregnancy in Glanzmann thrombasthenia. (22672198)
2012
3
Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin I^1 and I^3 in platelet adhesion to collagen. (22065596)
2012
4
Hemosuccus pancreaticus in Glanzmann thrombasthenia: implication of scintigraphy in gastrointestinal bleeding (GIB) of unknown origin. (21637072)
2011
5
A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. (21457404)
2011
6
Nasal packing with strips of cured pork as treatment for uncontrollable epistaxis in a patient with Glanzmann thrombasthenia. (22224315)
2011
7
The use of Ankaferd blood stopper in a patient with Glanzmann's thrombasthenia with gingival bleeding. (20440107)
2010
8
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. (20020534)
2010
9
Endometriosis in two sisters with Glanzmann's thrombasthenia. (19647234)
2009
10
Stem cell transplantation for children with Glanzmann thrombasthenia. (18205861)
2008
11
Acquired Glanzmann's thrombasthenia caused by glycoprotein IIb/IIIa autoantibodies of the immunoglobulin G1 (IgG1), IgG2 or IgG4 subclass: a study in six cases. (19138263)
2008
12
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. (16879215)
2006
13
Gene symbol: ITGA2B. Disease: Glanzmann thrombasthenia. (17128469)
2006
14
Perioperative management of a heterozygous carrier of Glanzmann's thrombasthenia submitted to coronary artery bypass grafting with cardiopulmonary bypass. (16861409)
2006
15
A case of Glanzmann's thrombasthenia successfully treated with recombinant factor viia during a surgical procedure: observations on the monitoring and the mechanism of action of this drug. (16785139)
2006
16
Therapeutic expression of the platelet-specific integrin, alphaIIbbeta3, in a murine model for Glanzmann thrombasthenia. (15972454)
2005
17
Bleeding and surgery in children with Glanzmann thrombasthenia with and without the use of recombinant factor VII a. (16307424)
2005
18
Surgical and clinical management of a patient with Glanzmann thrombasthenia: a case report. (15366524)
2004
19
Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3. (12871468)
2003
20
A Ser752-->Pro substitution in the cytoplasmic domain of beta3 in a Glanzmann thrombasthenia variant fails to prevent interactions between the alphaIIbbeta3 integrin and the platelet granule pool of fibrinogen. (12199799)
2002
21
A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia. (11897046)
2002
22
Human platelet alloantigen polymorphism in Glanzmann's thrombasthenia and its impact on the severity of the disease. (12406067)
2002
23
Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia. (12152649)
2002
24
Are patients with Glanzmann thrombasthenia and the Bernard-Soulier syndrome protected against atherosclerosis? (11554587)
2001
25
Severe and relapsing upper gastrointestinal bleeding in a patient with Glanzmann's thrombasthenia. (10749344)
2000
26
Severe menorrhagia due to Glanzmann thrombasthenia treated with hydrothermal ablation. (10806276)
2000
27
Clinical spectrum of Glanzmann's thrombasthenia. (11218676)
2000
28
Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization. (10673707)
2000
29
Megakaryocyte-targeted synthesis of the integrin beta(3)-subunit results in the phenotypic correction of Glanzmann thrombasthenia. (10845892)
2000
30
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia. (9450787)
1998
31
Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb. (9663713)
1998
32
Severe juvenile vaginal bleeding due to Glanzmann's thrombasthenia: case report and review of the literature. (9495374)
1998
33
A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia. (9763559)
1998
34
A three amino acid deletion in glycoprotein IIIa is responsible for type I Glanzmann's thrombasthenia: importance of residues Ile325Pro326Gly327 for beta3 integrin subunit association. (9226167)
1997
35
The biologic and clinical spectrum of Glanzmann's thrombasthenia: implications of integrin alpha IIb beta 3 for its pathogenesis. (9246538)
1997
36
Severe proximal deep vein thrombosis in a Glanzmann thrombasthenia variant successfully treated with a low molecular weight heparin. (9226191)
1997
37
Management of a deep space infection of the neck in a patient with Glanzmann's thrombasthenia. (9251622)
1997
38
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
39
Platelet phenotyping in carriers for Glanzmann's thrombasthenia: a simple screening test for assessment of the molecular defect. (7655575)
1995
40
Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease. (9371310)
1994
41
Molecular pathology of the Bernard-Soulier syndrome, platelet-type von Willebrand's disease and Glanzmann's thrombasthenia. (7693249)
1993
42
A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIIIa (integrin beta 3) Arg214 by Trp. (7509233)
1993
43
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
44
Delivery of infants with Glanzmann thrombasthenia and subsequent blood transfusion requirements: a follow-up of 39 patients. (1566741)
1992
45
Hand surgery in Glanzmann's thrombasthenia. (1415176)
1992
46
A variant of Glanzmann's thrombasthenia which fails to express a GPIIb-IIIa related epitope that is recognized by a specific monoclonal antibody (C17). (1382548)
1992
47
Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets. (6310559)
1982
48
Studies on platelet glycoproteins in Glanzmann's thrombasthenia using 125I-labelled lectins. (7191718)
1980
49
Glanzmann's thrombasthenia: studies of surface proteins of platelets and red cells with (125I)-diazotized diiodosulfanilic acid and SDS-polyacrylamide gel electrophoresis. (7444856)
1980
50
Further studies on the protein composition and surface structure of normal platelets and platelets from patients with Glanzmann's thrombasthenia and Bernard-Soulier syndrome. (570311)
1978

Genetic Variations for Glanzmann's Thrombasthenia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Glanzmann's Thrombasthenia:

63 (show all 61)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 53R&D Systems, 38NCBI BioSystems Database, 4Cell Signaling Technology, 50PharmGKB, 30KEGG, 12EMD Millipore
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Glanzmann's Thrombasthenia according to GeneCards/GeneDecks:

(show top 50)    (show all 186)
idCompoundScoreTop Affiliating Genes
1estrogen4510.4F8, F9
2epinephrine45 11 2412.3F8, PF4, F3, GP1BA
3danaparoid4510.2TNXA, F10, PF4, F3
4kaolin4510.2F8, F10, F3, F9
5cacl24510.2F10, F8, F3, THBS1, F9
6fondaparinux4510.1F9, PF4, TNXA, F10, F3
7grgds4510.1F3, FN1, PTK2, THBS1, VTN
8bivalirudin45 1111.1F3, F2R, TNXA, F10
9adp45 29 2412.1ITGA2B, ITGA2, CD9, PF4, F2R, PECAM1
10gamma-carboxyglutamic acid4510.1PF4, F10, F3, TNXA, F9
11kininogen4510.0VTN, GP1BA, F3, PF4, F9, THBS1
12ristocetin4510.0F2R, GP1BA, F3, RECK, ITGB3, F8
13clopidogrel50 45 11 2413.0ITGA2, F10, ITGB3, F3, PECAM1, TNXA
14grgdsp4510.0FN1, THBS1, VTN, ITGA2
15glucose4510.0F2R, PF4, RECK, GP1BA, THBS1, PTK2
16aspartate4510.0F8, F10, F2R, VTN
17abciximab45 1110.9VTN, F2R, GP1BA, F3, PF4, F10
18tirofiban45 1110.9ITGB3, ITGA2B, ITGA2, F10, VTN, F2R
19dermatan sulfate459.9TNXA, F9, F10, FN1, PF4, F3
20aprotinin45 1110.9F3, F9, F10, FN1, PF4, RECK
21cytochalasin d45 6010.9PECAM1, GP1BA, F2R, THBS1, PTK2, VTN
22thromboxane a245 2410.9F8, ITGA2, PF4, F2R, PTK2, CD9
23polyethylene glycol459.8VTN, F10, FN1, CD9, PF4, F8
24dextran sulfate459.8VTN, THBS1, F3, PF4, CD9, FN1
25phospholipid459.8F8, TNXA, F9, ITGA2, F10, F3
26polyacrylamide459.7ITGA2, F9, TNXA, F8, FN1, RECK
27hirudin459.7THBS1, F2R, GP1BA, F3, PF4, F10
28matrigel459.7ITGA2, PECAM1, VTN, PTK2, THBS1, FN1
29phosphatidylserine45 29 1111.6GP1BA, F3, RECK, CD47, F10, PTK2
30ly294002459.5VTN, PTK2, RAP1A, F2R, THBS1, CD9
31serine459.4F10, FN1, CD47, GP1BA, THBS1, PTK2
32latex459.4F2R, GP1BA, PF4, CD9, FN1, ITGA2
33prostacyclin459.4PECAM1, VTN, PTK2, THBS1, RAP1A, F2R
34lysine459.4F8, F9, VTN, TNXA, RECK, PF4
35vegf459.4PF4, RECK, F3, F2R, RAP1A, THBS1
36polysaccharide459.4TNXA, F8, ITGA2, F10, FN1, CD9
3712-o-tetradecanoylphorbol 13-acetate459.3PF4, CD9, ITGA2, ITGA2B, PTK2, RAP1A
38phosphatidylinositol459.3THBS1, ITGA2, PTK2, CD9, CD47, GP1BA
39heparin45 29 11 2412.3F9, F8, ITGA2, F10, FN1, PF4
40cholesterol45 29 11 2412.3PTK2, F8, F9, CD47, PF4, RECK
41methionine459.3F9, RECK, ITGA2, THBS1, FN1, F8
42aspirin45 50 29 2412.2TNXA, PECAM1, VTN, F8, ITGB3, ITGA2
43lipid459.2RAP1A, THBS1, RECK, PF4, VTN, ITGA2
44retinoic acid45 2410.2PTK2, CD47, CD9, ITGA2, FN1, F3
45arginine459.1VTN, RAP1A, F10, F2R, RECK, PTK2
46alanine459.0ITGB3, F10, FN1, CD9, PF4, F3
47cysteine458.8F9, VTN, PECAM1, PTK2, THBS1, F2R
48tyrosine458.6RAP1A, F9, VTN, PTK2, THBS1, CD9
49calcium45 50 11 2411.4F9, TNXA, PTK2, VTN, PECAM1, THBS1
50fibrinogen458.4F9, TNXA, RECK, PF4, GP1BA, CD47

GO Terms for genes affiliated with Glanzmann's Thrombasthenia

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glanzmann's Thrombasthenia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet