MCID: GLN010
MIFTS: 63

Glanzmann Thrombasthenia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Glanzmann Thrombasthenia

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NIH Rare Diseases:41 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 based summary: Glanzmann Thrombasthenia, also known as glanzmanns thrombasthenia, is related to colorectal cancer and acute myocardial infarction, and has symptoms including autosomal recessive inheritance, menorrhagia and gingival bleeding. An important gene associated with Glanzmann Thrombasthenia is ITGA2B (integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)), and among its related pathways are Signal transduction by L1 and Signaling events mediated by PTP1B. The compounds leukadherin 1 and tc-i 15 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and whole blood, and related mouse phenotypes are normal and cellular.

OMIM:45 Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation... (273800) more...

Aliases & Classifications for Glanzmann Thrombasthenia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 11DISEASES, 22GTR, 38NCIt, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet
See all sources

Glanzmann Thrombasthenia, Aliases & Descriptions:

Name: Glanzmann Thrombasthenia 45 9 10 41 43 47
Glanzmanns Thrombasthenia 11 22
Platelet Fibrinogen Receptor, Deficiency of 41
Thrombasthenia of Glanzmann and Naegeli 41
Platelet Glycoprotein 2b 3a Deficiency 41
Glanzmann Thrombasthenia, Type a 60
Glanzmann Thrombasthenia Type a 41
 
Deficiency of Gp 2b 3a Complex 41
Glycoprotein Iib/iiia Defect 9
Diacyclothrombopathia 2b 3a 41
Glanzmann's Thrombasthenia 9
Thrombocytasthenia 9
Thrombasthenia 60
Gt 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
glanzmann thrombasthenia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 273800
Disease Ontology9 DOID:2219
NCIt38 C61249
Orphanet47 849
ICD10 via Orphanet26 D69.1

Related Diseases for Glanzmann Thrombasthenia

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Diseases related to Glanzmann Thrombasthenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 699)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.6PECAM1, VTN, ITGA2
2acute myocardial infarction30.3PECAM1, F3, ITGA2B
3coronary artery disease30.3PECAM1, GP1BA, ITGB3, ITGA2B, ITGA2
4asthma30.3VTN, ITGB3, ITGA2
5rheumatoid arthritis30.2ITGA2, ITGB3, VTN, PECAM1
6breast cancer30.2PECAM1, GP1BA, VTN, ITGB3, ITGA2
7bernard-soulier syndrome, type c30.0GP1BA, ITGB3, ITGA2B, ITGA2
8atherosclerosis29.9PECAM1, F3, VTN, ITGB3, ITGA2B
9thrombocytosis29.9F3, GP1BA
10liver cirrhosis29.9GP1BA, F3, VTN
11myocardial infarction29.7PECAM1, GP1BA, F3, ITGB3, ITGA2B, ITGA2
12melanoma29.6PECAM1, VTN, ITGB3, ITGA2
13galactosemia29.6F3, VTN
14von willebrand's disease29.6ITGA2B, F3, GP1BA
15ipex syndrome29.4ITGA2B, VTN, GP1BA
16thrombocytopenia29.2PECAM1, GP1BA, F3, ITGB3, ITGA2B, ITGA2
17vascular disease28.4PECAM1, GP1BA, F3, VTN, ITGB3, ITGA2
18thrombasthenia11.4
19thalassemia10.8
20thrombasthenia of glanzmann and naegeli, itgb3-related10.7
21thrombasthenia of glanzmann and naegeli, itga2b-related10.7
22endotheliitis10.7
23artery disease10.7
24arthritis10.6
25lung cancer10.6
26obesity10.6
27schizophrenia10.5
28esophagitis10.5
29thyroiditis10.4
30prostatitis10.4
31hematopoietic stem cell transplantation10.4
32hemarthrosis10.4
33prostate cancer10.4
34cystic fibrosis10.4
35infertility10.4
36hepatocellular carcinoma10.4
37esophageal cancer10.4
38neuropathy10.4
39pancreatitis10.4
40adenocarcinoma10.4
41myopathy10.4
42systemic lupus erythematosus10.3
43hypertriglyceridemia10.3
44cerebritis10.3
45lupus erythematosus10.3
46hypertrophic cardiomyopathy10.3
47dilated cardiomyopathy10.3
48holoprosencephaly10.3
49male infertility10.3
50epidermolysis bullosa10.3

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



Diseases related to glanzmann thrombasthenia

Symptoms for Glanzmann Thrombasthenia

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Symptoms by clinical synopsis from OMIM:

273800

Clinical features from OMIM:

273800

HPO human phenotypes related to Glanzmann Thrombasthenia:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 menorrhagia HP:0000132
3 gingival bleeding HP:0000225
4 epistaxis HP:0000421
5 bruising susceptibility HP:0000978
6 purpura HP:0000979
7 decreased platelet glycoprotein iib-iiia HP:0001975
8 intracranial hemorrhage HP:0002170
9 gastrointestinal hemorrhage HP:0002239
10 prolonged bleeding time HP:0003010
11 impaired platelet aggregation HP:0003540

Drugs & Therapeutics for Glanzmann Thrombasthenia

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Drug clinical trials:

Search ClinicalTrials for Glanzmann Thrombasthenia

Search NIH Clinical Center for Glanzmann Thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

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Genetic tests related to Glanzmann Thrombasthenia:

id Genetic test Affiliating Genes
1 Glanzmann's Thrombasthenia22

Anatomical Context for Glanzmann Thrombasthenia

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MalaCards organs/tissues related to Glanzmann Thrombasthenia:

31
Bone marrow, Bone, Whole blood, Testes, Myeloid

Animal Models for Glanzmann Thrombasthenia or affiliated genes

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MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.1ITGA2, ITGB3, VTN, F3
2MP:00053847.0PECAM1, GP1BA, F3, ITGB3, ITGA2B, ITGA2
3MP:00053976.7ITGA2, PECAM1, GP1BA, F3, VTN, ITGB3
4MP:00053766.6PECAM1, GP1BA, F3, VTN, ITGB3, ITGA2B

Publications for Glanzmann Thrombasthenia

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Articles related to Glanzmann Thrombasthenia:

(show top 50)    (show all 178)
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
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. (24829739)
2014
3
Unusual redo mitral valve replacement for bleeding in Glanzmann thrombasthenia. (24904176)
2014
4
Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry. (25537026)
2014
5
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
6
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
7
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. (24342105)
2013
8
Glanzmann thrombasthenia: state of the art and future directions. (23929305)
2013
9
Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment. (23146053)
2012
10
Pattern of bleeding and response to therapy in Glanzmann thrombasthenia. (22970800)
2012
11
Glanzmann thrombasthenia in pregnancy: the value of a probing bleeding history. (22324052)
2012
12
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
13
An I+IIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the I^-propeller (Asn2Asp) disrupts a calcium binding site in blade 6. (21029361)
2011
14
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. (21917754)
2011
15
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report. (20736850)
2010
16
A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia. (20438394)
2010
17
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
18
Allogeneic stem cell transplantation for Glanzmann thrombasthenia. (19101997)
2009
19
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. (18450741)
2008
20
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. (18832906)
2008
21
Stem cell transplantation for children with Glanzmann thrombasthenia. (18205861)
2008
22
Glanzmann thrombasthenia in a neonate. (17277431)
2007
23
A 10-base-pair deletion in the gene encoding platelet glycoprotein IIb associated with Glanzmann thrombasthenia in a horse. (17338169)
2007
24
Excessive gingival bleeding in two patients with Glanzmann thrombasthenia. (17539731)
2007
25
Monitoring survival and function of transfused platelets in Glanzmann thrombasthenia by flow cytometry and thrombelastography. (16907879)
2006
26
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
27
The effect of platelets on fibrin gel structure formed in the presence of recombinant factor VIIa in hemophilia plasma and in plasma from a patient with Glanzmann thrombasthenia. (15670032)
2005
28
Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation. (15717695)
2005
29
Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA. (15886806)
2005
30
Surgical and clinical management of a patient with Glanzmann thrombasthenia: a case report. (15366524)
2004
31
Glanzmann thrombasthenia Frankfurt I is associated with a point mutation Thr176Ile in the N-terminal region of alpha IIb subunit integrin. (15543332)
2004
32
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
33
Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia. (12434904)
2002
34
Detection of transfused platelets in a patient with Glanzmann thrombasthenia. (11916093)
2002
35
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
36
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
37
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia. (11735106)
2001
38
Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia. (11493452)
2001
39
Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. (11197210)
2000
40
Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. (9916135)
1999
41
Insights and questions arising from studies of a mouse model of Glanzmann thrombasthenia. (10605739)
1999
42
Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes. (9493569)
1998
43
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia. (9450787)
1998
44
Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17. (9695977)
1998
45
A Ser162-->Leu mutation within glycoprotein (GP) IIIa (integrin beta3) results in an unstable alphaIIbbeta3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia. (9684783)
1998
46
Hepatic haematoma related to Glanzmann thrombasthenia in a newborn infant. (8616139)
1996
47
Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. (8704171)
1996
48
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. (8282784)
1994
49
Delivery of infants with Glanzmann thrombasthenia and subsequent blood transfusion requirements: a follow-up of 39 patients. (1566741)
1992
50
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

Variations for Glanzmann Thrombasthenia

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UniProtKB/Swiss-Prot genetic disease variations for Glanzmann 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

Clinvar genetic disease variations for Glanzmann Thrombasthenia:

6 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1ITGB3NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln)single nucleotide variantPathogenicrs121918444GRCh37Chr 17, 45363730: 45363730
2ITGB3NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr)single nucleotide variantPathogenicrs121918445GRCh37Chr 17, 45361880: 45361880
3ITGB3NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp)single nucleotide variantPathogenicrs121918446GRCh37Chr 17, 45363729: 45363729
4NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro)single nucleotide variantPathogenicrs121918447GRCh37Chr 17, 45387535: 45387535
5ITGB3ITGB3, IVSiDS, G-T, EXiDELdeletionPathogenic
6ITGB3NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr)single nucleotide variantPathogenicrs121918449GRCh37Chr 17, 45368393: 45368393
7ITGB3ITGB3, 11.2-KB DELdeletionPathogenic
8NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter)single nucleotide variantPathogenicrs121918450GRCh37Chr 17, 45384950: 45384950
9ITGB3NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter)single nucleotide variantPathogenicrs121918451GRCh37Chr 17, 45377854: 45377854
10ITGB3ITGB3, 11-BP DEL, EX12deletionPathogenic
11ITGB3NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp)single nucleotide variantPathogenicrs121918452GRCh37Chr 17, 45361875: 45361875
12ITGB3NM_000212.2(ITGB3): c.836A> T (p.Lys279Met)single nucleotide variantPathogenicrs79775494GRCh37Chr 17, 45364494: 45364494
13ITGB3NM_000212.2(ITGB3): c.740G> A (p.Gly247Asp)single nucleotide variantPathogenicrs79560904GRCh37Chr 17, 45363751: 45363751
14ITGA2BITGA2B, 13-BP DELdeletionPathogenic
15ITGA2BITGA2B, 4.5-KB DEL, EX2-9deletionPathogenic
16ITGA2BNM_000419.3(ITGA2B): c.1750C> T (p.Arg584Ter)single nucleotide variantPathogenicrs137852906GRCh37Chr 17, 42457372: 42457372
17ITGA2BITGA2B, IVS25AS, C-G, -3single nucleotide variantPathogenic
18ITGA2BNM_000419.3(ITGA2B): c.818G> A (p.Gly273Asp)single nucleotide variantPathogenicrs137852907GRCh37Chr 17, 42461935: 42461935
19ITGA2BITGA2B, IVS15DS, G-A, +1single nucleotide variantPathogenic
20ITGA2BNM_000419.3(ITGA2B): c.1073G> A (p.Arg358His)single nucleotide variantPathogenicrs137852908GRCh37Chr 17, 42460998: 42460998
21ITGA2BNM_000419.3(ITGA2B): c.1253G> A (p.Gly418Asp)single nucleotide variantPathogenicrs137852909GRCh37Chr 17, 42458387: 42458387
22ITGA2BITGA2B, VAL425DEL AND ASP426DELdeletionPathogenic
23ITGA2BNM_000419.3(ITGA2B): c.1063G> A (p.Glu355Lys)single nucleotide variantPathogenicrs137852910GRCh37Chr 17, 42461008: 42461008
24ITGA2BNM_000419.3(ITGA2B): c.1787T> C (p.Ile596Thr)single nucleotide variantPathogenicrs76811038GRCh37Chr 17, 42457148: 42457148
25ITGA2BNM_000419.3(ITGA2B): c.641T> C (p.Leu214Pro)single nucleotide variantPathogenicrs137852911GRCh37Chr 17, 42462561: 42462561
26ITGA2BNM_000419.3(ITGA2B): c.2870C> T (p.Ser957Leu)single nucleotide variantPathogenicrs80002943GRCh37Chr 17, 42452100: 42452100
27ITGA2BNM_000419.3(ITGA2B): c.1878G> C (p.Gln626His)single nucleotide variantPathogenicrs80277041GRCh37Chr 17, 42457057: 42457057

Expression for genes affiliated with Glanzmann Thrombasthenia

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Search GEO for disease gene expression data for Glanzmann Thrombasthenia.

Pathways for genes affiliated with Glanzmann Thrombasthenia

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Pathways related to Glanzmann Thrombasthenia according to GeneCards Suite gene sharing:

(show all 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ITGB3, ITGA2B
29.7ITGB3, ITGA2B
39.7ITGA2B, ITGB3
49.7ITGA2B, ITGB3
59.7ITGA2B, ITGB3
69.5ITGB3, VTN
7
Show member pathways
9.5VTN, ITGB3
8
Show member pathways
9.5VTN, ITGB3
9
Show member pathways
9.5PECAM1, ITGB3
109.5PECAM1, ITGB3
119.5GP1BA, VTN
12
Show member pathways
9.4GP1BA, F3
139.3ITGA2, ITGA2B
149.3ITGA2B, ITGA2
15
Show member pathways
9.2ITGA2B, ITGB3, GP1BA
169.2GP1BA, ITGA2
17
Show member pathways
9.2ITGB3, PECAM1, ITGA2B
18
Show member pathways
8.9ITGA2, ITGB3, ITGA2B
19
Show member pathways
8.9ITGA2, ITGB3, ITGA2B
20
Show member pathways
8.9ITGB3, ITGA2, ITGA2B
21
Show member pathways
8.9ITGB3, ITGA2, ITGA2B
22
Show member pathways
8.9ITGA2, ITGA2B, ITGB3
23
Show member pathways
8.9ITGA2, ITGB3, ITGA2B
248.9ITGA2, ITGB3, ITGA2B
25
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.9ITGA2, ITGA2B, ITGB3
26
Show member pathways
8.9ITGB3, ITGA2, ITGA2B
27
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.9ITGA2, ITGB3, ITGA2B
28
Show member pathways
8.9ITGA2B, ITGB3, ITGA2
29
Show member pathways
8.9ITGA2B, ITGA2, ITGB3
30
Show member pathways
8.9ITGA2B, ITGA2, ITGB3
318.9ITGA2B, ITGB3, ITGA2
32
Show member pathways
8.9ITGA2B, ITGB3, ITGA2
33
Show member pathways
Proteogylcan syndecan-mediated signaling events36
8.7VTN, ITGB3, ITGA2
34
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
8.7VTN, ITGA2, ITGB3
358.7VTN, ITGA2, ITGB3
368.4GP1BA, ITGB3, ITGA2, ITGA2B
378.3ITGB3, ITGA2B, VTN, ITGA2
38
Show member pathways
8.3ITGA2, ITGB3, VTN, ITGA2B
398.3VTN, ITGB3, ITGA2B, ITGA2
408.3ITGA2B, ITGB3, VTN, ITGA2
418.2PECAM1, ITGA2, ITGB3, VTN
42
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
7.9ITGA2, ITGA2B, ITGB3, GP1BA, VTN
437.8ITGA2B, PECAM1, VTN, ITGA2, ITGB3
44
Show member pathways
7.8ITGA2B, PECAM1, ITGA2, VTN, ITGB3
45
Show member pathways
7.8ITGA2B, VTN, ITGB3, PECAM1, ITGA2
46
Show member pathways
7.3ITGB3, ITGA2B, ITGA2, PECAM1, GP1BA, F3

Compounds for genes affiliated with Glanzmann Thrombasthenia

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Compounds related to Glanzmann Thrombasthenia according to GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1leukadherin 15910.1ITGA2B, ITGB3
2tc-i 155910.1ITGA2B, ITGB3
3bio 12115910.1ITGB3, ITGA2B
4obtustatin5910.1ITGB3, ITGA2B
5a 2869825910.1ITGB3, ITGA2B
6rhodostomin439.9ITGB3, VTN
7polyurethane439.8VTN, PECAM1
8titanium439.7VTN, ITGB3
9grgds439.7VTN, F3
10desmopressin43 59 28 1212.5GP1BA, F3
11convulxin439.5ITGA2, GP1BA
12cytochalasin b439.5VTN, GP1BA
13grgdsp439.5VTN, ITGA2
14formaldehyde43 2410.5PECAM1, GP1BA, ITGA2B
15ristocetin439.4F3, GP1BA, ITGB3
16hirudin439.4GP1BA, F3
17cytochalasin d43 5910.3VTN, PECAM1, GP1BA
18phosphatidylserine43 28 1211.3F3, ITGB3, GP1BA
19kininogen439.3F3, VTN, GP1BA
20glutaraldehyde439.2VTN, ITGA2
21fucoidan439.2PECAM1, F3, VTN
22guanidine43 24 1211.2ITGA2, VTN
23latex439.1ITGA2, VTN, GP1BA
24matrigel438.9ITGA2, PECAM1, VTN
25prostacyclin438.8GP1BA, F3, VTN, PECAM1
26alanine438.8VTN, ITGB3, GP1BA, F3
27polysaccharide438.8VTN, ITGA2, F3
28lysine438.7ITGA2B, ITGA2, ITGB3, VTN
29phospholipid438.7PECAM1, F3, ITGA2
30threonine438.6PECAM1, ITGB3, ITGA2, GP1BA
31abciximab43 129.5GP1BA, F3, VTN, ITGB3, ITGA2B
32clopidogrel43 49 24 1211.5PECAM1, ITGA2, F3, ITGB3
33aspartate438.5F3, VTN, ITGB3, ITGA2
34proline438.5ITGA2, ITGB3, GP1BA
35glucose438.5ITGB3, ITGA2, PECAM1, GP1BA
36epinephrine43 24 1210.5F3, GP1BA, ITGA2, VTN
37atp43 289.5PECAM1, VTN, ITGA2, ITGB3
38cycloheximide438.3VTN, ITGA2, PECAM1, F3
39retinoic acid43 249.3ITGA2, VTN, PECAM1, F3
40tirofiban43 129.2ITGA2B, F3, VTN, ITGA2, ITGB3
41lipid438.1VTN, PECAM1, ITGA2, ITGB3
42tyrosine438.1PECAM1, VTN, ITGB3, ITGA2, GP1BA
43vegf438.0PECAM1, ITGA2, VTN, ITGB3, F3
44serine438.0F3, GP1BA, PECAM1, ITGA2B, ITGB3, VTN
45heparin43 28 24 1211.0PECAM1, VTN, GP1BA, F3, ITGA2
46calcium43 49 24 1210.8PECAM1, GP1BA, ITGA2, ITGA2B, ITGB3, VTN
47cysteine437.6ITGA2B, F3, VTN, ITGB3, ITGA2, PECAM1
48aspirin43 49 28 2410.6VTN, ITGB3, GP1BA, F3, PECAM1, ITGA2
49fibrinogen437.2PECAM1, GP1BA, F3, VTN, ITGA2, ITGA2B
50adp43 28 249.2ITGA2, ITGA2B, PECAM1, GP1BA, F3, VTN

GO Terms for genes affiliated with Glanzmann Thrombasthenia

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

idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:00710629.4ITGB3, VTN
2platelet alpha granule membraneGO:00310929.2ITGA2B, ITGB3, PECAM1
3integrin complexGO:00083058.9ITGA2, ITGA2B, ITGB3
4focal adhesionGO:00059258.6ITGB3, ITGA2B, ITGA2
5plasma membraneGO:00058867.3ITGA2, ITGA2B, ITGB3, F3, GP1BA, PECAM1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1platelet aggregationGO:00705279.8ITGA2B, ITGB3
2positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:00309499.7VTN, ITGB3
3leukocyte migrationGO:00509009.5ITGB3, PECAM1
4positive regulation of leukocyte migrationGO:00026879.5ITGA2, ITGA2B
5platelet degranulationGO:00025769.4ITGA2B, ITGB3, PECAM1
6positive regulation of endothelial cell proliferationGO:00019389.3F3, ITGB3
7positive regulation of smooth muscle cell migrationGO:00149119.3ITGA2, VTN
8positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.2ITGB3, VTN
9positive regulation of positive chemotaxisGO:00509279.2F3, ITGA2
10integrin-mediated signaling pathwayGO:00072299.1ITGB3, ITGA2B, ITGA2
11platelet activationGO:00301689.0ITGA2B, ITGB3, GP1BA, PECAM1
12axon guidanceGO:00074118.9ITGA2, ITGA2B, ITGB3
13cell-matrix adhesionGO:00071608.6VTN, ITGB3, ITGA2B, ITGA2
14extracellular matrix organizationGO:00301988.1PECAM1, VTN, ITGB3, ITGA2B, ITGA2
15cell adhesionGO:00071557.7ITGA2, ITGA2B, ITGB3, VTN, GP1BA, PECAM1
16blood coagulationGO:00075967.6PECAM1, GP1BA, F3, ITGB3, ITGA2B, ITGA2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.3ITGA2B, VTN
2integrin bindingGO:00051789.1ITGA2, VTN
3protein bindingGO:00055156.6ITGA2, PECAM1, GP1BA, F3, VTN, ITGB3

Products for genes affiliated with Glanzmann Thrombasthenia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glanzmann Thrombasthenia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet