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GT1
MCID: GLN011
MIFTS: 66

Glanzmann Thrombasthenia 1 (GT1)

Categories: Blood diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Glanzmann Thrombasthenia 1

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MalaCards integrated aliases for Glanzmann Thrombasthenia 1:

Name: Glanzmann Thrombasthenia 1 57
Glanzmann Thrombasthenia 57 12 73 20 43 58 72 36 29 13 54 6
Thrombasthenia of Glanzmann and Naegeli 57 12 20 72
Deficiency of Platelet Fibrinogen Receptor 12 43 72
Platelet Glycoprotein Iib-Iiia Deficiency 57 12 72
Glanzmann's Thrombasthenia 12 15 39
Bdplt2 57 12 72
Gt 57 20 72
Deficiency of Glycoprotein Complex Iib-Iiia 12 43
Platelet Fibrinogen Receptor Deficiency 57 43
Glycoprotein Iib/iiia Defect 12 43
Thrombasthenia 44 70
Bleeding Disorder, Platelet-Type, 2; Bdplt2 57
Platelet Fibrinogen Receptor, Deficiency of 20
Glycoprotein Complex Iib-Iiia Deficiency 57
Platelet Glycoprotein 2b 3a Deficiency 20
Hereditary Hemorrhagic Thrombasthenia 43
Bleeding Disorder, Platelet-Type, 2 57
Deficiency of Gp Iib-Iiia Complex 12
Platelet-Type Bleeding Disorder 2 12
Bleeding Disorder Platelet-Type 2 72
Glanzmann Thrombasthenia, Type a 70
Glanzmann Thrombasthenia Type a 20
Gp Iib-Iiia Complex Deficiency 57
Deficiency of Gp 2b 3a Complex 20
Glanzmann Thrombasthenia; Gt 57
Diacyclothrombopathia 2b 3a 20
Glanzmann-Naegeli Disorder 43
Hereditary Thrombasthenia 43
Thrombocytasthenia 12
Glanzmann Disease 43
Gt1 57

Characteristics:

Orphanet epidemiological data:

58
glanzmann thrombasthenia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india
autosomal dominant inheritance has been rarely reported


HPO:

31
glanzmann thrombasthenia 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2219
OMIM® 57 273800
OMIM Phenotypic Series 57 PS231200 PS273800
KEGG 36 H00226
MeSH 44 D013915
NCIt 50 C61249
SNOMED-CT 67 32942005
ICD10 32 D69.1
ICD10 via Orphanet 33 D69.1
UMLS via Orphanet 71 C0040015
Orphanet 58 ORPHA849
MedGen 41 C0040015
UMLS 70 C0040015 C3179396
Sources

Summaries for Glanzmann Thrombasthenia 1

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MedlinePlus Genetics : 43 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.About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.

MalaCards based summary : Glanzmann Thrombasthenia 1, also known as glanzmann thrombasthenia, is related to glanzmann thrombasthenia 2 and bleeding disorder, platelet-type, 24. An important gene associated with Glanzmann Thrombasthenia 1 is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are ECM-receptor interaction and Focal adhesion. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include heart, myeloid and bone marrow, and related phenotypes are prolonged bleeding time and spontaneous, recurrent epistaxis

Disease Ontology : 12 A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material basis in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.

GARD : 20 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.

OMIM® : 57 Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; 173470) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (Rosenberg et al., 1997). (273800) (Updated 20-May-2021)

KEGG : 36 Glanzmann thrombasthenia is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding platelet glycoprotein alpha-IIb or platelet glycoprotein IIIa.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Glanzmann's thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy... more...

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Related Diseases for Glanzmann Thrombasthenia 1

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Diseases in the Glanzmann Thrombasthenia 1 family:

Glanzmann Thrombasthenia 2

Diseases related to Glanzmann Thrombasthenia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 234)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 2 33.2 ITGB3 EFCAB13-DT
2 bleeding disorder, platelet-type, 24 32.9 ITGB3 EFCAB13-DT
3 bleeding disorder, platelet-type, 16 32.9 ITGB3 ITGA2B EFCAB13-DT
4 thrombasthenia 31.8 VTN PTK2 ITGB3 ITGA2B ITGA2 GP1BA
5 purpura 31.1 VWF ITGB3 ITGA2B GP1BA F3
6 thrombocytopenia due to platelet alloimmunization 30.9 PF4 ITGB3 ITGA2B ITGA2 GP1BA
7 gray platelet syndrome 30.7 VWF PF4 ITGA2B
8 hemarthrosis 30.6 VWF F9 F8 F3 F10
9 active peptic ulcer disease 30.6 VWF F3
10 qualitative platelet defect 30.6 VWF PF4 F3
11 angiodysplasia 30.6 VWF F8 F3
12 factor vii deficiency 30.6 F9 F8 F3 F10
13 factor xiii deficiency 30.6 VWF F8 F3
14 von willebrand's disease 30.5 VWF PF4 ITGA2B GP1BA F9 F8
15 hemopericardium 30.5 F9 F3
16 autosomal dominant macrothrombocytopenia 30.5 ITGB3 ITGA2B GP1BA EFCAB13-DT
17 fetal and neonatal alloimmune thrombocytopenia 30.5 ITGB3 ITGA2B ITGA2 GP1BA
18 thrombocytopenic purpura, autoimmune 30.5 ITGB3 ITGA2B GP1BA F8
19 acquired von willebrand syndrome 30.5 VWF GP1BA F8 F3
20 sickle cell anemia 30.5 VWF ITGB3 ITGA2B GP1BA
21 hemophilia a 30.4 VWF F9 F8 F3
22 factor xi deficiency 30.2 VWF F9 F8 F3 F10
23 factor viii deficiency 30.2 VWF F9 F8 F3 F10
24 sickle cell disease 30.2 VWF THBS1 PF4
25 thrombophilia 30.2 VWF PF4 ITGB3 F9 F8 F3
26 disseminated intravascular coagulation 30.1 VWF FN1 F9 F3 F10
27 blood platelet disease 30.0 VWF RECK PF4 ITGB3 ITGA2B ITGA2
28 thrombocytosis 29.9 VWF PF4 F3
29 prothrombin deficiency 29.9 F9 F8 F3 F10
30 thrombosis 29.8 VWF PF4 ITGB3 ITGA2B ITGA2 GP1BA
31 bernard-soulier syndrome 29.8 VWF RECK ITGB3 ITGA2B ITGA2 GP1BA
32 thrombocytopenia 29.7 VWF THBS1 PF4 ITGB3 ITGA2B ITGA2
33 hemorrhagic disease 29.5 VWF PF4 ITGB3 ITGA2B ITGA2 GP1BA
34 vascular disease 29.5 VWF VTN PF4 ITGB3 ITGA2B ITGA2
35 myocardial infarction 28.8 VWF THBS1 PF4 ITGB3 ITGA2B ITGA2
36 bleeding disorder, platelet-type, 17 11.4
37 leukocyte adhesion deficiency, type iii 11.4
38 leukocyte adhesion deficiency, type i 11.2
39 congenital disorder of glycosylation, type iic 11.2
40 schlegelberger grote syndrome 10.9
41 autosomal recessive disease 10.6
42 rare hemorrhagic disorder 10.4
43 fainting 10.4 VWF F8
44 medulloadrenal hyperfunction 10.4 VWF F3
45 thrombotic microangiopathy 10.4 VWF F3
46 papillary adenofibroma 10.4 VWF F3
47 synovial angioma 10.4 F8 F3
48 pediatric angiosarcoma 10.4 VWF F8
49 splenic sequestration 10.4 VWF ITGA2B F3
50 breast hemangioma 10.3 VWF F8

Graphical network of the top 20 diseases related to Glanzmann Thrombasthenia 1:



Diseases related to Glanzmann Thrombasthenia 1
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Symptoms & Phenotypes for Glanzmann Thrombasthenia 1

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Human phenotypes related to Glanzmann Thrombasthenia 1:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
2 spontaneous, recurrent epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004406
3 gingival bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0000225
4 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
5 prolonged bleeding after surgery 58 31 frequent (33%) Frequent (79-30%) HP:0004846
6 prolonged bleeding following circumcision 58 31 frequent (33%) Frequent (79-30%) HP:0030137
7 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
8 spontaneous hematomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0007420
9 menometrorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0400008
10 menorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000132
11 macroscopic hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012587
12 ecchymosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031364
13 impaired ristocetin-induced platelet aggregation 58 31 very rare (1%) Very rare (<4-1%) HP:0011871
14 purpura 58 31 Occasional (29-5%) HP:0000979
15 epistaxis 31 HP:0000421
16 intracranial hemorrhage 31 HP:0002170
17 impaired adp-induced platelet aggregation 58 Excluded (0%)
18 impaired epinephrine-induced platelet aggregation 58 Excluded (0%)
19 impaired arachidonic acid-induced platelet aggregation 58 Excluded (0%)
20 impaired thrombin-induced platelet aggregation 58 Excluded (0%)
21 impaired thromboxane a2 agonist-induced platelet aggregation 58 Excluded (0%)
22 impaired collagen-related peptide-induced platelet aggregation 58 Excluded (0%)
23 impaired platelet aggregation 31 HP:0003540
24 decreased platelet glycoprotein iib-iiia 31 HP:0001975
25 impaired clot retraction 31 HP:0031126

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
purpura
easy bruisability

Head And Neck Mouth:
gingival bleeding

Laboratory Abnormalities:
prolonged bleeding time
deficiency of glycoprotein (gp)iib-iiia complex

Hematology:
abnormal platelet aggregation
glanzmann thrombasthenia
normal platelet count

Head And Neck Nose:
epistaxis

Neurologic Central Nervous System:
intracranial hemorrhage

Genitourinary Internal Genitalia Female:
menorrhagia

Abdomen Gastrointestinal:
gi hemorrhage

Clinical features from OMIM®:

273800 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.33 CD47 CD9 F2R F3 F8 F9
2 homeostasis/metabolism MP:0005376 10.3 CD47 CD9 F10 F2R F3 F8
3 cellular MP:0005384 10.28 CD47 CD9 F2R F3 FN1 GP1BA
4 cardiovascular system MP:0005385 10.27 CD47 F10 F2R F3 F9 FN1
5 immune system MP:0005387 10.13 CD47 CD9 F2R F3 F8 F9
6 mortality/aging MP:0010768 10.03 CD47 CD9 F10 F2R F3 F8
7 integument MP:0010771 9.91 CD47 F3 FN1 ITGA2 ITGA2B ITGB3
8 neoplasm MP:0002006 9.56 CD47 CD9 F2R F3 FN1 ITGB3
9 nervous system MP:0003631 9.36 CD47 CD9 F2R F3 FN1 ITGA2B
Sources

Drugs & Therapeutics for Glanzmann Thrombasthenia 1

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Drugs for Glanzmann Thrombasthenia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3 Immunologic Factors Phase 2
4 Hemostatics Phase 1, Phase 2
5 Antirheumatic Agents Phase 2
6 Immunosuppressive Agents Phase 2
7 Alkylating Agents Phase 2
8 Antimetabolites Phase 2
9
Abatacept Approved Phase 1 332348-12-6 10237
10
Mycophenolic acid Approved Phase 1 24280-93-1 446541
11 Cyclosporins Phase 1
12
Iron Approved 7439-89-6 23925 29936
13
alemtuzumab Approved, Investigational 216503-57-0
14
Busulfan Approved, Investigational 55-98-1 2478
15
Sodium citrate Approved, Investigational 68-04-2
16
Alefacept Approved, Investigational, Withdrawn 222535-22-0
17
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
18 Antifibrinolytic Agents
19 Immunoglobulins
20 Vaccines
21 Antibodies
22 Antilymphocyte Serum
23 Citrate
24 Factor VIII
25 Dermatologic Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Phase 1/2 Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Safety, and Efficacy of Marzeptacog Alfa (Activated) in Treatment of Episodic Bleeding in Subjects With Inherited Bleeding Disorders Recruiting NCT04548791 Phase 1, Phase 2
2 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
3 A Single-centre, Randomised, Double-blind, Two-way Cross-over Trial Investigating the Bio-equivalence in Healthy Male Subjects of NovoSeven (CP-rFVIIa) and a Formulation of NovoSeven Stable at 25°C (VII25) Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
4 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
5 Efficacy of NovoSeven® (Activated Recombinant Human Factor VII): Non-interventional Study in Patients With Congenital Haemophilia With Inhibitors, Acquired Haemophilia, Factor FVII Deficiency, and Glanzmann's Thrombasthenia Completed NCT00697320 eptacog alfa (activated)
6 A Multicentre, Non-interventional, Observational Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
7 Treatment of Glanzmann's Thrombasthenia: A Prospective Observational Registry Completed NCT01476423 activated recombinant human factor VII
8 Anti-αIIbβ3 Immunization in Glanzmann Thrombasthenia: Prevalence and Associated Risk Factors: Thrombasthenia Anti-αIIbβ3 Antibodies Study (TAAS) Recruiting NCT04595617
9 Studies of Interactions Among Normal and Abnormal Blood Cells, and the Vessel Wall, and Studies of Genetic and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell and Coagulation Disorders Recruiting NCT00230165
10 MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
11 A Post-Marketing, Observational Study in Iran to Determine the Immunogenicity Status in Patients Who Have Received rFVIIa AryoSeven. Enrolling by invitation NCT03372993
12 Interest of Sublingual Videomicroscopy for the Prediction of Bleeding in Von Willebrand Disease and Other Constitutional Haemorrhagic Diseases Not yet recruiting NCT04119908
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Glanzmann Thrombasthenia 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


recombinant FVIIa

Cochrane evidence based reviews: thrombasthenia

Sources

Genetic Tests for Glanzmann Thrombasthenia 1

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Genetic tests related to Glanzmann Thrombasthenia 1:

# Genetic test Affiliating Genes
1 Glanzmann Thrombasthenia 29 ITGA2B ITGB3
Sources

Anatomical Context for Glanzmann Thrombasthenia 1

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MalaCards organs/tissues related to Glanzmann Thrombasthenia 1:

40
Heart, Myeloid, Bone Marrow, Bone, Breast, Whole Blood, Endothelial
Sources

Publications for Glanzmann Thrombasthenia 1

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Articles related to Glanzmann Thrombasthenia 1:

(show top 50) (show all 555)
# Title Authors PMID Year
1
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 57 6 54 61
20020534 2010
2
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). 61 57 6 54
16463284 2006
3
Glanzmann thrombasthenia: genetic basis and clinical correlates. 57 6 61
32139434 2020
4
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. 6 57 61
21487445 2011
5
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. 57 6 61
8282784 1994
6
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. 61 6 54
19691478 2009
7
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. 6 54 61
15886807 2005
8
Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia. 57 54 61
9845537 1998
9
Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder. 54 61 57
9160670 1997
10
Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. 6 61 54
7706461 1995
11
The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. 61 57 54
2014236 1991
12
Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion. 61 6
32237906 2020
13
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. 61 6
31088191 2020
14
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. 61 6
31565851 2019
15
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. 6 61
30792900 2019
16
Novel mutations in Thai patients with glanzmann thrombasthenia. 6 61
28888044 2017
17
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. 61 6
28232155 2017
18
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. 61 6
27696190 2017
19
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. 6 61
26096001 2016
20
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. 6 61
25728920 2015
21
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia. 61 6
25827233 2015
22
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. 61 6
25373348 2015
23
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. 61 6
25539746 2014
24
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. 6 61
24418945 2014
25
A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure. 6 61
22394243 2013
26
Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. 61 6
24236036 2013
27
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. 6 61
22190468 2012
28
Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients. 6 61
22250950 2012
29
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. 61 6
21917754 2011
30
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? 6 61
21557682 2011
31
Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. 6 61
20492470 2010
32
A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia. 61 6
20438394 2010
33
Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. 6 61
21113249 2010
34
AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3. 6 61
18791937 2008
35
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. 61 6
16879215 2006
36
Glanzmann thrombasthenia. 61 6
16722529 2006
37
Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case. 6 61
15748238 2005
38
Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 6 61
12424194 2003
39
A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. 61 57
12511588 2003
40
Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3. 61 6
12353082 2002
41
Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia. 6 61
12152649 2002
42
A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function. 61 6
11776310 2001
43
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. 6 54
11091187 2000
44
A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. 61 6
10607701 2000
45
Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. 6 54
10233432 1999
46
Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. 6 54
9920835 1999
47
A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia. 6 61
9763559 1998
48
Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. 54 6
9734640 1998
49
Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients. 6 61
9722314 1998
50
Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. 6 61
9473221 1998
Sources

Variations for Glanzmann Thrombasthenia 1

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ClinVar genetic disease variations for Glanzmann Thrombasthenia 1:

6 (show top 50) (show all 375)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGA2B NM_000419.5(ITGA2B):c.409-2_419del Deletion Pathogenic 2889 rs879255508 GRCh37: 17:42463074-42463086
GRCh38: 17:44385706-44385718
2 ITGA2B ITGA2B, 4.5-KB DEL, EX2-9 Deletion Pathogenic 2890 GRCh37:
GRCh38:
3 ITGA2B NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) SNV Pathogenic 2892 rs137852906 GRCh37: 17:42457372-42457372
GRCh38: 17:44380004-44380004
4 ITGA2B NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) SNV Pathogenic 2894 rs137852907 GRCh37: 17:42461935-42461935
GRCh38: 17:44384567-44384567
5 ITGA2B NM_000419.5(ITGA2B):c.1544+1G>A SNV Pathogenic 2895 rs879255509 GRCh37: 17:42457753-42457753
GRCh38: 17:44380385-44380385
6 ITGA2B NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) Deletion Pathogenic 2898 rs780017389 GRCh37: 17:42458269-42458274
GRCh38: 17:44380901-44380906
7 ITGA2B NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) SNV Pathogenic 2899 rs137852910 GRCh37: 17:42461008-42461008
GRCh38: 17:44383640-44383640
8 ITGA2B NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) SNV Pathogenic 2901 rs137852911 GRCh37: 17:42462561-42462561
GRCh38: 17:44385193-44385193
9 ITGB3 NM_000212.2(ITGB3):c.433G>T (p.Asp145Tyr) SNV Pathogenic 13554 rs121918445 GRCh37: 17:45361880-45361880
GRCh38: 17:47284514-47284514
10 ITGA2B NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) SNV Pathogenic 2900 rs76811038 GRCh37: 17:42457148-42457148
GRCh38: 17:44379780-44379780
11 ITGA2B NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) SNV Pathogenic 225393 rs74475415 GRCh37: 17:42453691-42453691
GRCh38: 17:44376323-44376323
12 ITGA2B NM_000419.5(ITGA2B):c.2094+2T>C SNV Pathogenic 458368 rs1555613692 GRCh37: 17:42455728-42455728
GRCh38: 17:44378360-44378360
13 ITGA2B NM_000419.5(ITGA2B):c.1946+1G>A SNV Pathogenic 569057 rs746091910 GRCh37: 17:42456010-42456010
GRCh38: 17:44378642-44378642
14 ITGA2B NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) SNV Pathogenic 626927 rs1598377051 GRCh37: 17:42453680-42453680
GRCh38: 17:44376312-44376312
15 ITGA2B NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) Deletion Pathogenic 627052 rs1598375779 GRCh37: 17:42452087-42452087
GRCh38: 17:44374719-44374719
16 ITGA2B NM_000419.5(ITGA2B):c.409-1G>A SNV Pathogenic 627063 rs1393747638 GRCh37: 17:42463085-42463085
GRCh38: 17:44385717-44385717
17 ITGA2B NM_000419.5(ITGA2B):c.559del (p.Val187fs) Deletion Pathogenic 627093 rs1469711487 GRCh37: 17:42462934-42462934
GRCh38: 17:44385566-44385566
18 ITGB3 NM_000212.2(ITGB3):c.1409dup (p.Asn470fs) Duplication Pathogenic 627234 rs1386425657 GRCh37: 17:45369651-45369652
GRCh38: 17:47292285-47292286
19 ITGA2B NM_000419.5(ITGA2B):c.1440-1G>A SNV Pathogenic 627239 rs1598379928 GRCh37: 17:42457859-42457859
GRCh38: 17:44380491-44380491
20 ITGA2B NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) Deletion Pathogenic 627292 rs1598375578 GRCh37: 17:42451790-42451790
GRCh38: 17:44374422-44374422
21 ITGB3 NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) SNV Pathogenic 812736 rs958609406 GRCh37: 17:45362012-45362012
GRCh38: 17:47284646-47284646
22 ITGA2B NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) Duplication Pathogenic 627273 rs1598377980 GRCh37: 17:42455104-42455105
GRCh38: 17:44377736-44377737
23 ITGA2B NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) SNV Pathogenic 854735 GRCh37: 17:42463079-42463079
GRCh38: 17:44385711-44385711
24 ITGA2B NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) SNV Pathogenic 953000 GRCh37: 17:42462967-42462967
GRCh38: 17:44385599-44385599
25 ITGA2B NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) Microsatellite Pathogenic 953001 GRCh37: 17:42460993-42460996
GRCh38: 17:44383625-44383628
26 ITGA2B NM_000419.5(ITGA2B):c.1440-13_1440-1del Deletion Pathogenic 953002 GRCh37: 17:42457859-42457871
GRCh38: 17:44380491-44380503
27 ITGA2B NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) SNV Pathogenic 953004 GRCh37: 17:42458426-42458426
GRCh38: 17:44381058-44381058
28 ITGB3 NM_000212.3(ITGB3):c.2014+1G>A SNV Pathogenic 953009 GRCh37: 17:45377945-45377945
GRCh38: 17:47300579-47300579
29 ITGA2B NM_000419.5(ITGA2B):c.624+2C>A SNV Pathogenic 953013 GRCh37: 17:42462652-42462652
GRCh38: 17:44385284-44385284
30 ITGA2B NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) SNV Pathogenic 953019 GRCh37: 17:42452041-42452041
GRCh38: 17:44374673-44374673
31 ITGA2B NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) Duplication Pathogenic 953023 GRCh37: 17:42455099-42455100
GRCh38: 17:44377731-44377732
32 ITGA2B NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) SNV Pathogenic 381748 rs780786843 GRCh37: 17:42458406-42458406
GRCh38: 17:44381038-44381038
33 ITGB3 NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) Duplication Pathogenic 953026 GRCh37: 17:45367136-45367137
GRCh38: 17:47289770-47289771
34 ITGA2B NM_000419.5(ITGA2B):c.1545-1del Deletion Pathogenic 953017 GRCh37: 17:42457670-42457670
GRCh38: 17:44380302-44380302
35 ITGB3 NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) Duplication Pathogenic 953030 GRCh37: 17:45351826-45351827
GRCh38: 17:47274460-47274461
36 ITGA2B NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) SNV Pathogenic 953031 GRCh37: 17:42457504-42457504
GRCh38: 17:44380136-44380136
37 ITGA2B NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) SNV Pathogenic 953033 GRCh37: 17:42456075-42456075
GRCh38: 17:44378707-44378707
38 ITGA2B NM_000419.5(ITGA2B):c.291del (p.Ser98fs) Deletion Pathogenic 953034 GRCh37: 17:42463397-42463397
GRCh38: 17:44386029-44386029
39 ITGA2B NM_000419.5(ITGA2B):c.91del (p.Ala31fs) Deletion Pathogenic 953035 GRCh37: 17:42466751-42466751
GRCh38: 17:44389383-44389383
40 ITGA2B NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) Duplication Pathogenic 953045 GRCh37: 17:42452054-42452055
GRCh38: 17:44374686-44374687
41 ITGB3 NM_000212.3(ITGB3):c.1791del (p.Asn597fs) Deletion Pathogenic 953049 GRCh37: 17:45376774-45376774
GRCh38: 17:47299408-47299408
42 ITGB3 NM_000212.3(ITGB3):c.79+1G>A SNV Pathogenic 953050 GRCh37: 17:45331307-45331307
GRCh38: 17:47253941-47253941
43 ITGB3 NM_000212.3(ITGB3):c.2113del (p.Leu705fs) Deletion Pathogenic 953051 GRCh37: 17:45380184-45380184
GRCh38: 17:47302818-47302818
44 ITGB3 NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) Microsatellite Pathogenic 953052 GRCh37: 17:45363783-45363784
GRCh38: 17:47286417-47286418
45 ITGA2B NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) SNV Pathogenic 953054 GRCh37: 17:42453015-42453015
GRCh38: 17:44375647-44375647
46 ITGA2B NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) SNV Pathogenic 953055 GRCh37: 17:42457510-42457510
GRCh38: 17:44380142-44380142
47 ITGA2B NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) SNV Pathogenic 953056 GRCh37: 17:42462433-42462433
GRCh38: 17:44385065-44385065
48 ITGA2B NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) SNV Pathogenic 381747 rs78657866 GRCh37: 17:42451838-42451838
GRCh38: 17:44374470-44374470
49 ITGA2B NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) SNV Pathogenic 953058 GRCh37: 17:42455140-42455140
GRCh38: 17:44377772-44377772
50 ITGB3 NM_000212.3(ITGB3):c.1550del (p.Gly517fs) Deletion Pathogenic 953059 GRCh37: 17:45369792-45369792
GRCh38: 17:47292426-47292426

UniProtKB/Swiss-Prot genetic disease variations for Glanzmann Thrombasthenia 1:

72 (show top 50) (show all 61)
# Symbol AA change Variation ID SNP ID
1 ITGA2B p.Gly273Asp VAR_003979 rs137852907
2 ITGA2B p.Arg358His VAR_003980 rs137852908
3 ITGA2B p.Gly449Asp VAR_003981
4 ITGA2B p.Gln778Pro VAR_003982 rs74475415
5 ITGA2B p.Pro176Ala VAR_009885
6 ITGA2B p.Pro176Leu VAR_009886
7 ITGA2B p.Phe320Ser VAR_009887
8 ITGA2B p.Glu355Lys VAR_009888 rs137852910
9 ITGA2B p.Leu86Pro VAR_030445 rs105253357
10 ITGA2B p.Ala139Val VAR_030446
11 ITGA2B p.Cys161Trp VAR_030447
12 ITGA2B p.Tyr174His VAR_030448
13 ITGA2B p.Phe202Cys VAR_030449
14 ITGA2B p.Thr207Ile VAR_030450
15 ITGA2B p.Leu214Pro VAR_030451 rs137852911
16 ITGA2B p.Phe222Leu VAR_030452
17 ITGA2B p.Gly267Glu VAR_030453
18 ITGA2B p.Val329Phe VAR_030454
19 ITGA2B p.Gly380Asp VAR_030455 rs766006685
20 ITGA2B p.Ile405Thr VAR_030456 rs75622274
21 ITGA2B p.Gly412Arg VAR_030457 rs780786843
22 ITGA2B p.Ala581Asp VAR_030459
23 ITGA2B p.Ile596Thr VAR_030460 rs76811038
24 ITGA2B p.Cys705Arg VAR_030461 rs77961246
25 ITGA2B p.Leu752Val VAR_030462 rs761174160
26 ITGA2B p.Arg755Pro VAR_030463 rs763762304
27 ITGA2B p.Leu847Pro VAR_030464 rs134453207
28 ITGA2B p.Pro943Leu VAR_030465
29 ITGA2B p.Val982Met VAR_030466 rs78657866
30 ITGA2B p.Arg1026Gln VAR_030468 rs879255514
31 ITGA2B p.Val934Phe VAR_069917 rs77458039
32 ITGA2B p.Ser957Leu VAR_069918 rs80002943
33 ITGB3 p.Asp145Tyr VAR_003998 rs121918445
34 ITGB3 p.Arg240Gln VAR_003999 rs121918444
35 ITGB3 p.Arg240Trp VAR_004000 rs121918446
36 ITGB3 p.His306Pro VAR_004001 rs13306476
37 ITGB3 p.Cys400Tyr VAR_004002 rs121918449
38 ITGB3 p.Cys586Phe VAR_004003
39 ITGB3 p.Gly598Ser VAR_004004
40 ITGB3 p.Ser778Pro VAR_004005 rs121918447
41 ITGB3 p.Leu143Trp VAR_010649 rs121918452
42 ITGB3 p.Ser188Leu VAR_010651 rs143146734
43 ITGB3 p.Cys568Arg VAR_010671
44 ITGB3 p.Gly605Ser VAR_010672 rs144884023
45 ITGB3 p.Arg119Trp VAR_030473 rs781062792
46 ITGB3 p.Tyr141Cys VAR_030474
47 ITGB3 p.Asp145Asn VAR_030475
48 ITGB3 p.Met150Val VAR_030476 rs767548512
49 ITGB3 p.Leu222Pro VAR_030478 rs79208797
50 ITGB3 p.Arg242Gln VAR_030479 rs377162158

Sources

Expression for Glanzmann Thrombasthenia 1

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Search GEO for disease gene expression data for Glanzmann Thrombasthenia 1.
Sources

Pathways for Glanzmann Thrombasthenia 1

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Pathways related to Glanzmann Thrombasthenia 1 according to KEGG:

36
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512
2 Focal adhesion hsa04510

Pathways related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 63
Show member pathways
 13.36 VTN THBS1 RAP1A PTK2 PF4 ITGB3
2
Phospholipase-C Pathway 63
Show member pathways
 13.05 RAP1A PTK2 ITGB3 ITGA2B ITGA2 FN1
3
PI3K-Akt signaling pathway 36
Show member pathways
 12.95 VWF VTN THBS1 PTK2 ITGB3 ITGA2B
4
Development Angiotensin activation of ERK 23
Show member pathways
 12.84 RAP1A PTK2 ITGB3 ITGA2B ITGA2 FN1
5
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.83 RAP1A PTK2 ITGB3 ITGA2B ITGA2
6
Focal Adhesion 36 1
Show member pathways
 12.83 VWF VTN THBS1 RAP1A PTK2 ITGB3
7
Pathways in cancer 36
12.82 PTK2 ITGA2B ITGA2 FN1 F2R
8
Degradation of the extracellular matrix 65
Show member pathways
 12.76 VTN THBS1 ITGB3 ITGA2B ITGA2 FN1
9
Ras signaling pathway 36
Show member pathways
 12.72 THBS1 RAP1A ITGB3 ITGA2B F2R
10
Regulation of actin cytoskeleton 36 1
12.66 PTK2 ITGB3 ITGA2B ITGA2 FN1 F2R
11
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.63 VWF THBS1 RAP1A PTK2 PF4 ITGB3
12
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.59 VTN PTK2 ITGB3 ITGA2 FN1
13
MET promotes cell motility 65
Show member pathways
 12.53 VTN THBS1 RAP1A PTK2 ITGB3 ITGA2
14
EPH-Ephrin signaling 65
Show member pathways
 12.5 RAP1A PTK2 ITGB3 FN1
15
VEGF Pathway (Qiagen) 63
Show member pathways
 12.38 VTN PTK2 ITGB3 FN1
16
Signaling by moderate kinase activity BRAF mutants 65
Show member pathways
 12.33 VWF RAP1A ITGB3 ITGA2B FN1
17
Proteoglycans in cancer 36
12.31 VTN THBS1 PTK2 ITGB3 ITGA2 FN1
18
Actin Dynamics Signaling Pathway 66
12.23 PTK2 ITGB3 ITGA2B ITGA2
19
Cell surface interactions at the vascular wall 65
Show member pathways
 12.22 PF4 ITGB3 FN1 CD47
20
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.19 PTK2 ITGB3 ITGA2B ITGA2
21
Oncogenic MAPK signaling 65
Show member pathways
 12.12 VWF RAP1A ITGB3 ITGA2B FN1
22
TGF-beta Signaling Pathway (WikiPathways) 1
12.11 THBS1 PTK2 ITGB3 ITGA2 FN1
23
Complement and coagulation cascades 36 1
12.07 VWF VTN F9 F8 F3 F2R
24
Adhesion 4
12.04 RAP1A PTK2 ITGB3 F3
25
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
12.01 ITGB3 ITGA2B ITGA2 GP1BA
26
Platelet activation 36
11.96 VWF RAP1A ITGB3 ITGA2B ITGA2 GP1BA
27
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.96 VWF PF4 GP1BA F9 F8 F3
28
Hematopoietic cell lineage 36
11.94 ITGB3 ITGA2B ITGA2 GP1BA CD9
29
Senescence and Autophagy in Cancer 1
11.9 VTN THBS1 FN1
30
Small cell lung cancer 36
11.9 PTK2 ITGA2B ITGA2 FN1
31
Angiogenesis (CST) 4
11.86 VWF THBS1 RECK ITGB3 F3
32
Phagocytosis of Microbes 63
11.82 VTN ITGB3 ITGA2B ITGA2 FN1
33
ECM-receptor interaction 36
Show member pathways
 11.8 VWF VTN THBS1 ITGB3 ITGA2B ITGA2
34
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.79 VWF RAP1A PTK2 ITGB3 ITGA2B GP1BA
35
G-protein signaling_RhoA regulation pathway 23
11.75 RAP1A PTK2 ITGB3 ITGA2B ITGA2
36
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.73 VTN PTK2 ITGB3
37
ECM proteoglycans 65
11.66 VTN ITGB3 ITGA2B ITGA2
39
Cytoskeleton remodeling_RalA regulation pathway 23
11.56 RAP1A PTK2 ITGB3 ITGA2B ITGA2
40
Integrins in angiogenesis 1
11.54 VTN ITGB3 FN1 CD47
41
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.54 VWF ITGB3 ITGA2B ITGA2 F2R
42
amb2 Integrin signaling 1
11.52 VTN GP1BA FN1
43
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.46 VTN ITGB3 ITGA2 FN1
44
Articular Cartilage Extracellular Matrix Pathway 64
11.39 ITGA2B ITGA2 FN1
45
Inflammatory Response Pathway 1
11.35 VTN THBS1 FN1
46
G-protein signaling_Rap2B regulation pathway 23
11.03 PTK2 PF4 ITGB3 ITGA2B ITGA2 FN1
47
Platelet Adhesion to exposed collagen 65
10.9 VWF ITGA2 GP1BA
48
Warfarin Pathway, Pharmacodynamics 60
10.87 F9 F10
49
MFAP5-mediated ovarian cancer cell motility and invasiveness 1
10.77 PTK2 ITGB3
50
GP1b-IX-V activation signalling 65
10.69 VWF GP1BA
Sources

GO Terms for Glanzmann Thrombasthenia 1

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Cellular components related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.3 RECK RAP1A PTK2 ITGB3 ITGA2B ITGA2
2 extracellular exosome GO:0070062 10.11 VWF VTN THBS1 RAP1A ITGB3 ITGA2B
3 extracellular region GO:0005576 10.1 VWF VTN THBS1 RECK PF4 FN1
4 extracellular space GO:0005615 10 VWF VTN THBS1 PF4 GP1BA FN1
5 focal adhesion GO:0005925 9.92 PTK2 ITGB3 ITGA2B ITGA2 CD9
6 endoplasmic reticulum lumen GO:0005788 9.91 THBS1 FN1 F9 F8 F10
7 extracellular matrix GO:0031012 9.85 VWF THBS1 GP1BA FN1
8 collagen-containing extracellular matrix GO:0062023 9.7 VWF VTN THBS1 PF4 FN1 F9
9 integrin complex GO:0008305 9.61 ITGB3 ITGA2B ITGA2
10 platelet alpha granule membrane GO:0031092 9.58 ITGB3 ITGA2B CD9
11 platelet alpha granule GO:0031091 9.56 VWF THBS1
12 fibrinogen complex GO:0005577 9.54 THBS1 FN1
13 alphav-beta3 integrin-vitronectin complex GO:0071062 9.49 VTN ITGB3
14 intrinsic component of external side of plasma membrane GO:0031233 9.48 F3 F10
15 platelet alpha granule lumen GO:0031093 9.35 VWF THBS1 PF4 FN1 F8
16 cell surface GO:0009986 9.28 THBS1 ITGB3 ITGA2B ITGA2 GP1BA F3

Biological processes related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.07 VWF VTN THBS1 ITGB3 ITGA2B ITGA2
2 positive regulation of cell proliferation GO:0008284 10.02 THBS1 PTK2 FN1 F2R CD47
3 positive regulation of cell migration GO:0030335 9.93 THBS1 PTK2 F3 F2R F10
4 extracellular matrix organization GO:0030198 9.91 VWF VTN THBS1 RECK ITGB3 ITGA2B
5 cell migration GO:0016477 9.89 VTN THBS1 ITGB3 CD47
6 integrin-mediated signaling pathway GO:0007229 9.88 PTK2 ITGB3 ITGA2B ITGA2 FN1 CD47
7 platelet activation GO:0030168 9.87 VWF PF4 ITGB3 GP1BA F8 F2R
8 positive regulation of protein kinase B signaling GO:0051897 9.86 THBS1 PTK2 F3 F10
9 cell-matrix adhesion GO:0007160 9.85 VTN ITGB3 ITGA2B ITGA2 FN1
10 wound healing GO:0042060 9.81 ITGB3 ITGA2 FN1
11 regulation of megakaryocyte differentiation GO:0045652 9.8 THBS1 PF4 ITGA2B GP1BA
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.79 PTK2 FN1 F2R
13 platelet aggregation GO:0070527 9.78 ITGB3 ITGA2B GP1BA FN1
14 platelet degranulation GO:0002576 9.76 VWF THBS1 PF4 ITGB3 ITGA2B FN1
15 response to wounding GO:0009611 9.75 VWF FN1 F2R
16 blood coagulation, intrinsic pathway GO:0007597 9.73 VWF GP1BA F9 F8
17 cell adhesion mediated by integrin GO:0033627 9.7 VTN ITGB3 ITGA2
18 cell-substrate adhesion GO:0031589 9.69 VWF ITGB3 ITGA2
19 positive regulation of macrophage chemotaxis GO:0010759 9.65 THBS1 PTK2
20 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.64 VTN ITGB3
21 positive regulation of blood coagulation GO:0030194 9.63 THBS1 F2R
22 positive regulation of fibroblast migration GO:0010763 9.63 THBS1 PTK2
23 mesodermal cell differentiation GO:0048333 9.61 ITGB3 ITGA2
24 regulation of blood coagulation GO:0030193 9.61 GP1BA F2R
25 blood coagulation GO:0007596 9.61 VWF ITGB3 ITGA2 GP1BA F9 F8
26 positive regulation of leukocyte migration GO:0002687 9.6 ITGA2B ITGA2
27 positive regulation of positive chemotaxis GO:0050927 9.58 ITGA2 F3
28 thrombin-activated receptor signaling pathway GO:0070493 9.57 GP1BA F2R
29 blood coagulation, extrinsic pathway GO:0007598 9.55 F3 F10
30 hemostasis GO:0007599 9.17 VWF GP1BA F9 F8 F3 F2R

Molecular functions related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 VWF VTN THBS1 RECK RAP1A PTK2
2 heparin binding GO:0008201 9.71 VTN THBS1 PF4 FN1
3 extracellular matrix structural constituent GO:0005201 9.62 VWF VTN THBS1 FN1
4 collagen binding GO:0005518 9.61 VWF ITGA2 FN1
5 proteoglycan binding GO:0043394 9.48 THBS1 FN1
6 protease binding GO:0002020 9.46 VWF ITGB3 FN1 F3
7 extracellular matrix binding GO:0050840 9.43 THBS1 ITGB3 ITGA2B
8 thrombin-activated receptor activity GO:0015057 9.37 GP1BA F2R
9 integrin binding GO:0005178 9.23 VWF VTN THBS1 PTK2 ITGB3 ITGA2
10 fibrinogen binding GO:0070051 9.13 THBS1 ITGB3 ITGA2B
Sources

Sources for Glanzmann Thrombasthenia 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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