GT
MCID: GLN003
MIFTS: 73

Glanzmann's Thrombasthenia (GT) malady

Genetic diseases, Rare diseases, Blood diseases, Endocrine diseases categories
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Summaries for Glanzmann's Thrombasthenia

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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Fully expand this MalaCard
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 breast 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 Arf6 signaling events and Ephrin B reverse signaling. The compounds obtustatin and a 286982 have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and bone marrow, and related mouse phenotypes are embryogenesis and digestive/alimentary.

Description from OMIM:47 273800

Aliases & Classifications for Glanzmann's Thrombasthenia

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 10DISEASES, 58SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
glanzmann thrombasthenia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

glanzmann's thrombasthenia 8
glanzmann thrombasthenia 8 9 43 22 47 45 49
thyroid hormone plasma membrane transport defect 62
platelet fibrinogen receptor, deficiency of 43
thrombasthenia of glanzmann and naegeli 43
platelet glycoprotein 2b 3a deficiency 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
ICD10 via Orphanet26 D69.1
SNOMED-CT via Orphanet59 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 750)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.9VTN, PECAM1, GP1BA, ITGA2
2coronary artery disease30.7ITGA2B, F2R, ITGA2, ITGB3, GP1BA, PECAM1
3asthma30.6ITGA2, ITGB3, VTN, F2R
4bernard-soulier syndrome30.6ITGA2B, F2R, ITGB3, GP1BA, ITGA2
5rheumatoid arthritis30.6ITGB3, F2R, ITGA2, PECAM1, VTN
6diabetes mellitus30.5PECAM1, ITGA2B, ITGA2, GP1BA, VTN
7venous thrombosis30.5F3, F2R
8myocardial infarction30.5GP1BA, ITGA2, ITGA2B, F3, PECAM1, F2R
9thromboembolism30.4ITGA2, F2R, F3
10prostate cancer30.4ITGA2, PECAM1, F2R, ITGB3
11atherosclerosis30.3F3, PECAM1, ITGA2B, ITGB3, VTN, F2R
12acute myocardial infarction30.3PECAM1, F3, ITGA2B
13leukemia30.2ITGA2B, F2R, ITGB3, PECAM1
14multiple sclerosis30.2F2R, VTN, PECAM1
15sepsis30.2F3, GP1BA, F2R, VTN
16pre-eclampsia30.1F3, PECAM1, F2R
17colon cancer30.1ITGA2, PECAM1, VTN, F2R
18melanoma30.0F2R, ITGA2, PECAM1, VTN, ITGB3
19thrombocytopenia30.0ITGA2, ITGA2B, F2R, PECAM1, GP1BA, F3
20liver cirrhosis30.0F2R, F3, GP1BA, VTN
21diabetic retinopathy29.9ITGA2, ITGB3, VTN
22thrombocytosis29.8GP1BA, F3
23ischemia29.8F2R, PECAM1, VTN
24cerebrovascular disease29.8GP1BA, ITGA2, F2R, PECAM1, F3, ITGB3
25glioblastoma multiforme29.8F2R, PECAM1, VTN
26thrombophilia29.6F2R, F3
27galactosemia29.6VTN, F3
28von willebrand's disease29.6F3, GP1BA, ITGA2B
29pulmonary fibrosis29.5VTN, F2R
30ipex syndrome29.5F2R, VTN, ITGA2B, GP1BA
31thrombasthenia11.3
32thalassemia10.7
33colorectal cancer10.7
34endotheliitis10.7
35artery disease10.7
36thrombasthenia of glanzmann and naegeli, itgb3-related10.6
37thrombasthenia of glanzmann and naegeli, itga2b-related10.6
38hypertension10.6
39arthritis10.5
40lung cancer10.5
41alpha thalassemia10.5
42obesity10.5
43insulin resistance10.5
44alzheimer's disease10.4
45esophagitis10.4
46schizophrenia10.4
47thyroiditis10.4
48beta thalassemia10.4
49prostatitis10.4
50hemarthrosis10.4

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



Diseases related to glanzmann's thrombasthenia

Symptoms for Glanzmann's Thrombasthenia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

273800

Clinical features from OMIM:

273800

Drugs & Therapeutics for Glanzmann's Thrombasthenia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Glanzmann's Thrombasthenia

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Glanzmann's Thrombasthenia:

33
Thyroid, Bone, Bone marrow, Monocytes, Whole blood, Skin, Smooth muscle, Heart, Testes, Endothelial

Animal Models for Glanzmann's Thrombasthenia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Glanzmann's Thrombasthenia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.7ITGA2B, ITGB3, F3, F2R
2MP:00053818.3F2R, PECAM1, ITGB3, ITGA2B
3MP:00053857.9F2R, PECAM1, F3, ITGB3, ITGA2B
4MP:00053877.6F2R, PECAM1, F3, ITGB3, ITGA2B
5MP:00053846.9F2R, PECAM1, GP1BA, F3, ITGB3, ITGA2B
6MP:00053976.6ITGA2, F2R, PECAM1, GP1BA, F3, VTN
7MP:00053766.5F2R, PECAM1, GP1BA, F3, VTN, ITGB3

Publications for Glanzmann's Thrombasthenia

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52PubMed
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Articles related to Glanzmann's Thrombasthenia:

(show top 50)    (show all 270)
idTitleAuthorsYear
1
A novel ELISA for diagnosis of Glanzmann's thrombasthenia and the heterozygote carriers. (22183252)
2012
2
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? (21557682)
2011
3
Formation of obstructing blood clot in the ureter in a patient with Glanzmann's thrombasthenia. (21885955)
2011
4
Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations. (19245802)
2009
5
Endometriosis in two sisters with Glanzmann's thrombasthenia. (19647234)
2009
6
A new case of acquired Glanzmann's thrombasthenia: diagnostic value of flow cytometry. (18200593)
2008
7
Diagnostic tool for Glanzmann's thrombasthenia clinicopathologic spectrum. (18454893)
2008
8
Glanzmann's thrombasthenia in two pregnant females. (17013816)
2007
9
Glanzmann's thrombasthenia associated with HBsAg-positive child: a case report. (17921640)
2007
10
Recombinant activated factor VII combined with desmopressin in preventing bleeding from dental extraction in a patient with Glanzmann's thrombasthenia. (16444446)
2006
11
Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia. (16217260)
2005
12
The use of recombinant factor VIla in a primigravida with Glanzmann's thrombasthenia during delivery. (15493726)
2004
13
Gene therapy for platelet disorders: studies with Glanzmann's thrombasthenia. (14629461)
2003
14
A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. (12181054)
2002
15
Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti-glycoprotein IIb-IIIa antibodies. (12472579)
2002
16
Severe and relapsing upper gastrointestinal bleeding in a patient with Glanzmann's thrombasthenia. (10749344)
2000
17
Use of recombinant factor VIIa in 3 patients with inherited type I Glanzmann's thrombasthenia undergoing invasive procedures. (10823254)
2000
18
Norethisterone therapy for bleeding due to gastrointestinal telangiectases in Glanzmann's thrombasthenia. (9504647)
1998
19
Screening for factor V Leiden and a prothrombin gene polymorphism in patients with Glanzmann's thrombasthenia. (9633909)
1998
20
GLANZMANN's THROMBASTHENIA-SPECTRUM OF CLINICAL PRESENTATION ON SAUDI PATIENTS IN THE EASTERN PROVINCE. (23008567)
1997
21
Immunization against platelet glycoprotein IIb-IIIa in Glanzmann's thrombasthenia. (9222293)
1997
22
A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. (8781422)
1996
23
Periodontal management of Glanzmann's thrombasthenia: report of 3 cases. (8866321)
1996
24
Type I Glanzmann's thrombasthenia in a Great Pyrenees dog. (8885176)
1996
25
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
26
Adenine nucleotide binding and photoincorporation in Glanzmann's thrombasthenia platelets. (7794942)
1995
27
Glanzmann's thrombasthenia: the use of autologous fibrin glue in tooth extractions. (7608371)
1995
28
Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)
1993
29
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
30
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele. (1606713)
1992
31
Antibody removal therapy used successfully at delivery of a pregnant patient with Glanzmann's thrombasthenia and multiple anti-platelet antibodies. (1949709)
1991
32
Aggregation of human peripheral blood mononuclear cells by calcium ionophore A23187. Comparison with the aggregation of platelets and defective response in Glanzmann's thrombasthenia. (3136623)
1988
33
Limited septoplasty as treatment for recurrent epistaxis in a child with Glanzmann's thrombasthenia. (3821355)
1987
34
Platelet aggregation in whole blood from patients with Glanzmann's thrombasthenia. (3098326)
1987
35
Glanzmann's thrombasthenia: diagnosis supplemented by HP1-1D monoclonal antibody. (3463656)
1986
36
Ristocetin-induced platelet agglutination in four Chinese patients with Glanzmann's thrombasthenia. (4000715)
1985
37
Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia. (3156640)
1985
38
A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel. (6531749)
1984
39
Glycoprotein IIb-IIIa complex in platelets of patients and heterozygotes of Glanzmann's thrombasthenia. (6229900)
1983
40
Colonoscopic polypectomy in Glanzmann's thrombasthenia. (6600696)
1983
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
Pregnancy and parturition in a patient with severe Glanzmann's thrombasthenia. (7313543)
1981
44
Additional platelet membrane glycoprotein abnormalities in Glanzmann's thrombasthenia: A comparison with normals by high resolution two-dimensional polyacrylamide gel electrophoresis. (6158116)
1980
45
Deletion of the platelet-specific alloantigen PlA1 from platelets in Glanzmann's thrombasthenia. (566280)
1978
46
Platelet membrane defects in Glanzmann's thrombasthenia. Evidence for decreased amounts of two major glycoproteins. (70433)
1977
47
Glanzmann's thrombasthenia; assessment of the response to platelet transfusions. (1167989)
1975
48
Platelet factor 3 in Glanzmann's thrombasthenia. (4628168)
1972
49
Glanzmann's thrombasthenia and reduced glutathione. (4673007)
1972
50
Glanzmann's thrombasthenia and pregnancy. (5461433)
1970

Variations for Glanzmann's Thrombasthenia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Glanzmann's Thrombasthenia:

64 (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's Thrombasthenia:

1 (show all 27)
id Gene Name 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's Thrombasthenia

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2BioGPS, 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 5Cell Signaling Technology, 53QIAGEN, 54R&D Systems, 30KEGG, 60Thomson Reuters, 51PharmGKB
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Pathways related to Glanzmann's Thrombasthenia according to GeneCards/GeneDecks:

(show all 44)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ITGA2B, ITGB3
29.8ITGB3, ITGA2B
39.8ITGB3, ITGA2B
49.8ITGB3, ITGA2B
59.8ITGB3, ITGA2B
69.6VTN, ITGB3
7
Show member pathways
9.6ITGB3, VTN
89.6GP1BA, VTN
9
Show member pathways
9.5F3, GP1BA
109.5ITGA2, ITGA2B
119.5ITGA2, ITGA2B
129.4ITGA2, GP1BA
13
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
9.4F3, F2R
14
Show member pathways
9.3GP1BA, ITGB3, ITGA2B
159.3ITGB3, PECAM1
16
Show member pathways
9.2ITGA2B, F2R, ITGB3
17
Show member pathways
9.1ITGA2, ITGB3, ITGA2B
18
Show member pathways
9.1ITGA2, ITGB3, ITGA2B
19
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
20
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
21
Show member pathways
9.1ITGA2, ITGA2B, ITGB3
22
Show member pathways
9.1ITGB3, ITGA2B, ITGA2
23
Show member pathways
9.1ITGB3, ITGA2B, ITGA2
24
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.1ITGB3, ITGA2B, ITGA2
259.1ITGB3, ITGA2, ITGA2B
269.0VTN, ITGB3, ITGA2
27
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.0VTN, ITGA2, ITGB3
28
Show member pathways
Proteogylcan syndecan-mediated signaling events38
9.0ITGA2, ITGB3, VTN
29
Show member pathways
8.9ITGB3, PECAM1, ITGA2B
308.7GP1BA, ITGA2, ITGB3, ITGA2B
318.7VTN, ITGB3, ITGA2B, ITGA2
328.7ITGA2B, ITGB3, VTN, ITGA2
338.6ITGA2, ITGA2B, F2R, ITGB3
34
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.6ITGA2, ITGA2B, ITGB3, F2R
35
Show member pathways
8.6ITGA2, ITGA2B, F2R, ITGB3
36
Show member pathways
8.6ITGB3, ITGA2B, ITGA2, F2R
37
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.3ITGA2, ITGA2B, VTN, GP1BA, ITGB3
388.2VTN, ITGA2, ITGB3, PECAM1
398.2ITGA2B, F2R, ITGA2, VTN, ITGB3
40
Show member pathways
8.2VTN, ITGA2B, ITGA2, F2R, ITGB3
417.9ITGA2, ITGA2B, ITGB3, VTN, PECAM1
42
Show member pathways
7.9ITGB3, ITGA2, VTN, PECAM1, ITGA2B
43
Show member pathways
7.3ITGA2, ITGB3, ITGA2B, VTN, PECAM1, F2R
44
Show member pathways
6.9F3, ITGB3, ITGA2, ITGA2B, GP1BA, PECAM1

Compounds for genes affiliated with Glanzmann's Thrombasthenia

About this section
Sources:
61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR
See all sources

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

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1obtustatin6110.1ITGB3, ITGA2B
2a 2869826110.1ITGA2B, ITGB3
3leukadherin 16110.1ITGB3, ITGA2B
4bio 12116110.1ITGA2B, ITGB3
5tc-i 156110.0ITGB3, ITGA2B
6rhodostomin4510.0VTN, ITGB3
7grgds459.7F3, VTN
8bivalirudin45 1110.6F3, F2R
9guanidino459.6F2R, ITGA2
10halide459.6ITGA2, F2R
11ppack459.6F3, F2R
12polyurethane459.5PECAM1, VTN
13grgdsp459.5ITGA2, VTN
14convulxin459.5ITGA2, GP1BA
15kininogen459.5VTN, F3, GP1BA
16hirudin459.4F3, GP1BA, F2R
17aprotinin45 1110.4GP1BA, F2R, F3
18prasugrel45 51 1111.4PECAM1, F2R
19ristocetin459.1F2R, GP1BA, ITGB3, F3
20fucoidan459.1VTN, PECAM1, F3
21formaldehyde45 2410.1ITGA2B, GP1BA, PECAM1
22phosphatidylserine45 29 1111.1GP1BA, ITGB3, F3
23lysine459.0VTN, ITGB3, ITGA2B, ITGA2
24tacrolimus45 51 1111.0F2R, F3, VTN
25latex458.9GP1BA, ITGA2, VTN, F2R
26phenylalanine458.7PECAM1, GP1BA, F2R
27cytochalasin d45 619.7GP1BA, PECAM1, F2R, VTN
28alanine458.6GP1BA, F3, F2R, ITGB3, VTN
29matrigel458.4F2R, PECAM1, VTN, ITGA2
30aspartate458.4ITGB3, F2R, F3, ITGA2, VTN
31epinephrine45 24 1110.4F3, GP1BA, F2R, VTN, ITGA2
32phospholipid458.4F2R, F3, ITGA2, PECAM1
33cycloheximide458.3PECAM1, VTN, ITGA2, F3
34abciximab45 119.3ITGA2B, F2R, GP1BA, F3, VTN, ITGB3
35prostacyclin458.2PECAM1, F2R, GP1BA, VTN, F3
36phosphatidylinositol458.2F2R, VTN, ITGA2, GP1BA
37threonine458.1ITGB3, ITGA2, GP1BA, F2R, PECAM1
38glucose458.1ITGA2, ITGB3, PECAM1, GP1BA, F2R
39tirofiban45 119.1F2R, VTN, ITGA2B, ITGA2, ITGB3, F3
40clopidogrel45 51 24 1111.1F3, PECAM1, F2R, ITGB3, ITGA2
41retinoic acid45 248.9F2R, VTN, PECAM1, ITGA2, F3
42tyrosine457.7ITGB3, ITGA2, GP1BA, PECAM1, F2R, VTN
43vegf457.6VTN, F3, PECAM1, ITGB3, ITGA2, F2R
44heparin45 29 24 1110.6ITGA2, VTN, F2R, PECAM1, F3, GP1BA
45serine457.4F2R, ITGA2B, ITGB3, VTN, F3, GP1BA
46calcium45 51 24 1110.3ITGA2, ITGB3, PECAM1, GP1BA, ITGA2B, F2R
47cysteine457.2F2R, PECAM1, F3, VTN, ITGA2, ITGA2B
48aspirin45 51 29 2410.2GP1BA, F2R, ITGA2, PECAM1, ITGB3, VTN
49fibrinogen456.8ITGA2, ITGA2B, ITGB3, VTN, F3, GP1BA
50adp45 29 248.8ITGB3, ITGA2B, ITGA2, F3, GP1BA, PECAM1

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:

idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:0710629.6VTN, ITGB3
2integrin complexGO:0083059.2ITGB3, ITGA2B, ITGA2
3platelet alpha granule membraneGO:0310929.0PECAM1, ITGB3, ITGA2B
4focal adhesionGO:0059258.8ITGA2, ITGB3, ITGA2B
5integral component of plasma membraneGO:0058878.8ITGA2B, ITGB3, F2R, GP1BA
6plasma membraneGO:0058866.8ITGA2, F2R, ITGA2B, ITGB3, F3, GP1BA

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1platelet aggregationGO:0705279.9ITGB3, ITGA2B
2positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:0309499.8ITGB3, VTN
3regulation of blood coagulationGO:0301939.8F2R, GP1BA
4positive regulation of leukocyte migrationGO:0026879.7ITGA2, ITGA2B
5positive regulation of smooth muscle cell migrationGO:0149119.6ITGA2, VTN
6positive regulation of positive chemotaxisGO:0509279.6F3, ITGA2
7positive regulation of endothelial cell proliferationGO:0019389.5ITGB3, F3
8positive regulation of smooth muscle contractionGO:0459879.5F2R, ITGA2
9activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.4F2R, F3
10integrin-mediated signaling pathwayGO:0072299.4ITGB3, ITGA2, ITGA2B
11positive regulation of collagen biosynthetic processGO:0329679.4ITGA2, F2R
12positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.3ITGB3, VTN
13platelet degranulationGO:0025769.2PECAM1, ITGA2B, ITGB3
14axon guidanceGO:0074119.1ITGA2, ITGA2B, ITGB3
15cell-matrix adhesionGO:0071609.0VTN, ITGB3, ITGA2B, ITGA2
16platelet activationGO:0301688.3GP1BA, ITGB3, ITGA2B, PECAM1, F2R
17extracellular matrix organizationGO:0301988.1PECAM1, ITGB3, VTN, ITGA2B, ITGA2
18cell adhesionGO:0071557.8ITGA2B, GP1BA, VTN, ITGB3, ITGA2, PECAM1
19blood coagulationGO:0075967.2F2R, ITGB3, GP1BA, ITGA2, ITGA2B, F3

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

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:0150579.4F2R, GP1BA
2integrin bindingGO:0051789.4VTN, ITGA2
3extracellular matrix bindingGO:0508409.4ITGA2B, VTN
4protein bindingGO:0055156.4GP1BA, F2R, PECAM1, F3, VTN, ITGB3

Products for genes affiliated with Glanzmann's Thrombasthenia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glanzmann's Thrombasthenia

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet