MCID: GLN010
MIFTS: 63

Glanzmann Thrombasthenia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Glanzmann Thrombasthenia

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Aliases & Descriptions for Glanzmann Thrombasthenia:

Name: Glanzmann Thrombasthenia 49 10 11 45 23 47 51 67
Glanzmann's Thrombasthenia 10 12 24
Deficiency of Platelet Fibrinogen Receptor 23 67
Thrombasthenia of Glanzmann and Naegeli 45 67
Glycoprotein Iib/iiia Defect 10 23
Thrombasthenia 36 65
Gt 45 67
Deficiency of Glycoprotein Complex Iib-Iiia 23
Platelet Fibrinogen Receptor, Deficiency of 45
Platelet Glycoprotein Iib-Iiia Deficiency 67
Platelet Fibrinogen Receptor Deficiency 23
Platelet Glycoprotein 2b 3a Deficiency 45
 
Hereditary Hemorrhagic Thrombasthenia 23
Bleeding Disorder Platelet-Type 2 67
Glanzmann Thrombasthenia, Type a 65
Glanzmann Thrombasthenia Type a 45
Deficiency of Gp 2b 3a Complex 45
Diacyclothrombopathia 2b 3a 45
Glanzmann-Naegeli Disorder 23
Hereditary Thrombasthenia 23
Thrombocytasthenia 10
Glanzmann Disease 23
Bdplt2 67

Characteristics:

Orphanet epidemiological data:

51
glanzmann thrombasthenia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
glanzmann thrombasthenia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 273800
Disease Ontology10 DOID:2219
ICD1027 D69.1
MeSH36 D013915
NCIt42 C61249
Orphanet51 849
ICD10 via Orphanet28 D69.1
MedGen34 C0040015
UMLS65 C0040015, C3179396

Summaries for Glanzmann Thrombasthenia

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NIH Rare Diseases:45 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 glanzmann's thrombasthenia, is related to microcytic anemia and bernard-soulier syndrome, type c, and has symptoms including impaired platelet aggregation, prolonged bleeding time and gastrointestinal hemorrhage. An important gene associated with Glanzmann Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways are L1CAM interactions and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include skin, breast and lung, and related mouse phenotypes are embryo and normal.

Genetics Home Reference:23 Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.

OMIM:49 Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation... (273800) more...

UniProtKB/Swiss-Prot:67 Glanzmann thrombasthenia: A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability.

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 134)
idRelated DiseaseScoreTop Affiliating Genes
1microcytic anemia31.2F2, F3
2bernard-soulier syndrome, type c27.9F2, F2R, GP1BA, GP9, ITGA2, ITGA2B
3bleeding disorder, platelet-type, 16, autosomal dominant25.1CD9, EGF, F2, F2R, F3, F5
4low gamma-gt familial intrahepatic cholestasis12.1
5gilles de la tourette syndrome11.6
6thrombasthenia of glanzmann and naegeli, itga2b-related11.2
7thrombasthenia of glanzmann and naegeli, itgb3-related11.2
8thrombasthenia11.2
9bleeding disorder, platelet-type, 1711.0
10cholestasis, progressive familial intrahepatic 110.9
11cholestasis, benign recurrent intrahepatic10.9
12central nervous system osteosarcoma10.7F2, F3
13esophagus melanoma10.7F2, F3
14epiglottitis10.7F2, F3
15cavernous sinus thrombosis10.7F5, VTN
16cyclothymic disorder10.7F2, F3
17fowler's syndrome10.7F2, F3
18vaginal villous adenoma10.6F2, F3
19tall stature-scoliosis-macrodactyly of the great toes syndrome10.6F2, F5
20cavernous hemangioma of colon10.6F2, F3
21benign epilepsy with centrotemporal spikes10.6F3, F5
22liver failure acute infantile10.6F2, F5
23silo filler's disease10.6F2, F3
24internuclear ophthalmoplegia10.6F2, F5
25pericardial mesothelioma10.6F2, F5
26abducens nerve neoplasm10.6F2, F3
27microscopic colitis10.6F2, F5
28hypertrichosis10.5F2, F3
29thrombophilia due to thrombin defect10.5F2, F5
30sertoli cell tumor10.5F3, F5
31catatrichy10.5F3, F5
32fissured tongue10.5F2, F5
33herpes gestationis10.5F2, F3, VTN
34cerebrovascular disease10.5F2, F5
35glossopharyngeal nerve neoplasm10.5F3, ITGA2B
36splenic abscess10.5F2, F3
37sugarman brachydactyly10.5F2, F5, ITGB3
38pyridoxamine 5'-phosphate oxidase deficiency10.5FABP6, ITGA2B, ITGB3
39skull base meningioma10.5F2, F3
40thrombophilia, x-linked, due to factor ix defect10.5EGF, F2, F3
41short stature due to primary acid-labile subunit deficiency10.4GP1BA, ITGA2B, ITGB3
42retinitis pigmentosa10.4F2, F5, ITGA2
43granulomatous hepatitis10.4F2, F3, F5
44luminal breast carcinoma10.4F2, F3, F5
45facioscapulohumeral muscular dystrophy 110.4F2, F3, F5
46pre-malignant neoplasm10.4F2, F3, F5
47autoimmune disease of cardiovascular system10.4GP1BA, ITGA2B, ITGB3
48vertebral artery insufficiency10.4F2, F3, F5
49thrombophilia10.4F2, F3, F5
50thrombocytopenic purpura, autoimmune10.4GP1BA, ITGA2B, ITGB3

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

Drugs & Therapeutics for Glanzmann Thrombasthenia

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Drugs for Glanzmann Thrombasthenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AbataceptapprovedPhase 1139332348-12-610237
Synonyms:
CTLA4-Ig
CTLA4-IgG4m
 
CTLA4Ig
CTLA4IgG4m
Orencia
2Immunologic FactorsPhase 118483
3Immunosuppressive AgentsPhase 110422
4Antirheumatic AgentsPhase 18496
5Hemostatics1082
6Antifibrinolytic Agents346
7Dermatologic Agents4555

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male SubjectsCompletedNCT01561417Phase 1
2Abatacept Reduced Intensity for Non-Malignant DiseasesRecruitingNCT01917708Phase 1
3Observational Registry of the Treatment of Glanzmann's ThrombastheniaCompletedNCT01476423
4Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in GermanyCompletedNCT00697320
5The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.RecruitingNCT00230165
6Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of PlateletsRecruitingNCT01957345
7Evaluation of Menses in Congenital Bleeding DisordersRecruitingNCT01261936
8A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in JapanEnrolling by invitationNCT01876745
9Alefacept and Allogeneic Hematopoietic Stem Cell TransplantationSuspendedNCT01319851

Search NIH Clinical Center for Glanzmann Thrombasthenia


Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

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Anatomical Context for Glanzmann Thrombasthenia

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MalaCards organs/tissues related to Glanzmann Thrombasthenia:

33
Skin, Breast, Lung, Prostate, Colon, Tongue, Endothelial

Animal Models for Glanzmann Thrombasthenia or affiliated genes

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MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.3F2, F2R, F3, F5, ITGA2B, ITGB3
2MP:00028738.3EGF, F2, F3, ITGA2, ITGB3, PTK2
3MP:00107718.1EGF, F2, F3, F5, ITGA2, ITGB3
4MP:00053817.9EGF, F2, F2R, ITGA2B, ITGB3, PTK2
5MP:00053847.2F2R, F3, GP1BA, ITGA2, ITGA2B, ITGB3
6MP:00053856.7F2, F2R, F3, F5, ITGA2B, ITGB3
7MP:00053766.6F2, F2R, F3, F5, FABP6, GP1BA
8MP:00053875.8CD9, EGF, F2, F2R, F3, ITGA2B
9MP:00053975.6CD9, F2, F2R, F3, GP1BA, GP9

Publications for Glanzmann Thrombasthenia

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Articles related to Glanzmann Thrombasthenia:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. (26452979)
2016
2
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. (25806962)
2015
3
Successful Treatment of Refractory Gastrointestinal Bleeding by Systemic (Oral) Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia. (26167349)
2015
4
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. (24829739)
2014
5
Unusual redo mitral valve replacement for bleeding in Glanzmann thrombasthenia. (24904176)
2014
6
Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry. (25537026)
2014
7
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
8
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
9
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. (24342105)
2013
10
Glanzmann thrombasthenia: state of the art and future directions. (23929305)
2013
11
Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment. (23146053)
2012
12
Pattern of bleeding and response to therapy in Glanzmann thrombasthenia. (22970800)
2012
13
Glanzmann thrombasthenia in pregnancy: the value of a probing bleeding history. (22324052)
2012
14
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
15
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
16
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. (21917754)
2011
17
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report. (20736850)
2010
18
A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia. (20438394)
2010
19
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
20
Allogeneic stem cell transplantation for Glanzmann thrombasthenia. (19101997)
2009
21
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. (18450741)
2008
22
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. (18832906)
2008
23
Stem cell transplantation for children with Glanzmann thrombasthenia. (18205861)
2008
24
Glanzmann thrombasthenia in a neonate. (17277431)
2007
25
A 10-base-pair deletion in the gene encoding platelet glycoprotein IIb associated with Glanzmann thrombasthenia in a horse. (17338169)
2007
26
Excessive gingival bleeding in two patients with Glanzmann thrombasthenia. (17539731)
2007
27
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. (16879215)
2006
28
Monitoring survival and function of transfused platelets in Glanzmann thrombasthenia by flow cytometry and thrombelastography. (16907879)
2006
29
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
30
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
31
Surgical and clinical management of a patient with Glanzmann thrombasthenia: a case report. (15366524)
2004
32
Glanzmann thrombasthenia Frankfurt I is associated with a point mutation Thr176Ile in the N-terminal region of alpha IIb subunit integrin. (15543332)
2004
33
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
34
Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia. (12434904)
2002
35
Detection of transfused platelets in a patient with Glanzmann thrombasthenia. (11916093)
2002
36
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
37
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
38
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia. (11735106)
2001
39
Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia. (11493452)
2001
40
Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. (11197210)
2000
41
Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. (9916135)
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:

67 (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:

5 (show all 28)
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
14ITGA2BNM_000419.3(ITGA2B): c.1787T> C (p.Ile596Thr)single nucleotide variantPathogenicrs76811038GRCh37Chr 17, 42457148: 42457148
15ITGA2BITGA2B, 13-BP DELdeletionPathogenic
16ITGA2BITGA2B, 4.5-KB DEL, EX2-9deletionPathogenic
17ITGA2BNM_000419.3(ITGA2B): c.1750C> T (p.Arg584Ter)single nucleotide variantPathogenicrs137852906GRCh37Chr 17, 42457372: 42457372
18ITGA2BITGA2B, IVS25AS, C-G, -3single nucleotide variantPathogenic
19ITGA2BNM_000419.3(ITGA2B): c.818G> A (p.Gly273Asp)single nucleotide variantPathogenicrs137852907GRCh37Chr 17, 42461935: 42461935
20ITGA2BITGA2B, IVS15DS, G-A, +1single nucleotide variantPathogenic
21ITGA2BNM_000419.3(ITGA2B): c.1073G> A (p.Arg358His)single nucleotide variantPathogenicrs137852908GRCh37Chr 17, 42460998: 42460998
22ITGA2BNM_000419.3(ITGA2B): c.1253G> A (p.Gly418Asp)single nucleotide variantPathogenicrs137852909GRCh37Chr 17, 42458387: 42458387
23ITGA2BITGA2B, VAL425DEL AND ASP426DELdeletionPathogenic
24ITGA2BNM_000419.3(ITGA2B): c.1063G> A (p.Glu355Lys)single nucleotide variantPathogenicrs137852910GRCh37Chr 17, 42461008: 42461008
25ITGA2BNM_000419.3(ITGA2B): c.1787T> C (p.Ile596Thr)single nucleotide variantPathogenicrs76811038GRCh37Chr 17, 42457148: 42457148
26ITGA2BNM_000419.3(ITGA2B): c.641T> C (p.Leu214Pro)single nucleotide variantPathogenicrs137852911GRCh37Chr 17, 42462561: 42462561
27ITGA2BNM_000419.3(ITGA2B): c.2870C> T (p.Ser957Leu)single nucleotide variantPathogenicrs80002943GRCh37Chr 17, 42452100: 42452100
28ITGA2BNM_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 36)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7ITGA2, ITGA2B, ITGB3
29.7ITGA2, ITGA2B, ITGB3
39.7ITGA2, ITGB3, VTN
4
Show member pathways
9.7ITGA2, ITGB3, VTN
59.5GP1BA, GP9, VWF
69.5ITGA2, ITGA2B, ITGB3, VTN
79.5ITGA2, ITGA2B, ITGB3, VTN
89.5ITGA2, ITGA2B, PTK2
99.4GP1BA, ITGA2, ITGA2B, ITGB3
109.4EGF, ITGA2B, ITGB3
119.4EGF, ITGA2B, ITGB3
129.2GP1BA, GP9, ITGA2, VWF
13
Show member pathways
9.2ITGA2, ITGB3, PTK2, VTN
149.2ITGA2, ITGB3, PTK2, VTN
158.9ITGA2B, ITGB3, RAP1A, VWF
16
Show member pathways
8.8EGF, ITGB3, PTK2, VTN
178.6CD9, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
18
Show member pathways
8.6F3, ITGB3, PTK2, RAP1A
19
Show member pathways
8.6EGF, ITGA2, ITGA2B, ITGB3, PTK2
20
Show member pathways
8.5GP1BA, GP9, ITGA2, ITGA2B, ITGB3, VTN
21
Show member pathways
8.3F2, F2R, F3, F5, VTN, VWF
228.3EGF, F2R, ITGA2, ITGA2B, PTK2
238.2F2, F2R, GP9, ITGA2, ITGA2B, ITGB3
24
Show member pathways
8.1EGF, F2R, ITGA2B, ITGB3, RAP1A
25
Show member pathways
7.9F2, F2R, F3, F5, GP1BA, GP9
26
Show member pathways
7.8EGF, ITGA2, ITGA2B, ITGB3, PTK2, RAP1A
27
Show member pathways
7.7EGF, F2, F2R, ITGA2, ITGA2B, ITGB3
28
Show member pathways
7.6EGF, F2, F2R, PTK2, RAP1A
29
Show member pathways
7.5F2, F2R, ITGA2, ITGA2B, ITGB3, PTK2
307.5EGF, F2R, ITGA2, ITGA2B, ITGB3, PTK2
31
Show member pathways
7.5EGF, ITGA2, ITGA2B, ITGB3, PTK2, RAP1A
327.4F2R, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
33
Show member pathways
7.3F2, GP1BA, GP9, ITGA2B, ITGB3, PTK2
34
Show member pathways
7.2EGF, ITGA2, ITGA2B, ITGB3, PTK2, RAP1A
35
Show member pathways
6.6EGF, F2, F2R, ITGA2, ITGA2B, ITGB3
36
Show member pathways
4.8CD9, EGF, F2, F2R, F3, F5

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
1platelet alpha granule lumenGO:00310939.9F5, VWF
2extracellular vesicleGO:19035619.6CD9, F5

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of leukocyte migrationGO:000268710.4ITGA2, ITGA2B
2positive regulation of smooth muscle cell migrationGO:001491110.2F3, ITGA2
3positive regulation of collagen biosynthetic processGO:003296710.2F2, F2R
4positive regulation of release of sequestered calcium ion into cytosolGO:005128110.1F2, F2R
5positive regulation of smooth muscle contractionGO:004598710.1F2R, ITGA2
6STAT protein import into nucleusGO:000726210.0EGF, F2R
7positive regulation of blood coagulationGO:003019410.0F2, F2R
8positive regulation of DNA bindingGO:004338810.0EGF, ITGA2
9cell-matrix adhesionGO:000716010.0ITGA2, ITGA2B, ITGB3, VTN
10integrin-mediated signaling pathwayGO:000722910.0ITGA2B, ITGB3, PTK2
11regulation of blood coagulationGO:00301939.9F2, F2R, GP1BA
12positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.5F2, F2R, PTK2
13response to woundingGO:00096119.4F2, F2R, F3, VWF
14positive regulation of cell migrationGO:00303359.1F2R, F3, PTK2
15axon guidanceGO:00074118.8EGF, ITGA2, ITGB3, PTK2
16platelet activationGO:00301687.9EGF, F2R, ITGB3, PTK2, RAP1A
17cell adhesionGO:00071557.8CD9, GP1BA, GP9, ITGA2B, ITGB3, PTK2
18blood coagulationGO:00075966.9CD9, EGF, F2, F2R, F5, GP1BA

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.5EGF, F2

Sources for Glanzmann Thrombasthenia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet