GT
MCID: GLN010
MIFTS: 66

Glanzmann Thrombasthenia (GT)

Categories: Blood diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Glanzmann Thrombasthenia

MalaCards integrated aliases for Glanzmann Thrombasthenia:

Name: Glanzmann Thrombasthenia 56 12 74 52 25 58 73 36 29 13 54 6
Thrombasthenia of Glanzmann and Naegeli 56 12 52 73
Deficiency of Platelet Fibrinogen Receptor 12 25 73
Platelet Glycoprotein Iib-Iiia Deficiency 56 12 73
Glanzmann's Thrombasthenia 12 15 39
Bdplt2 56 12 73
Gt 56 52 73
Platelet Fibrinogen Receptor, Deficiency of 56 52
Deficiency of Glycoprotein Complex Iib-Iiia 12 25
Glycoprotein Iib/iiia Defect 12 25
Thrombasthenia 43 71
Glycoprotein Complex Iib-Iiia, Deficiency of 56
Bleeding Disorder, Platelet-Type, 2; Bdplt2 56
Platelet Fibrinogen Receptor Deficiency 25
Platelet Glycoprotein 2b 3a Deficiency 52
Hereditary Hemorrhagic Thrombasthenia 25
Bleeding Disorder, Platelet-Type, 2 56
Gp Iib-Iiia Complex, Deficiency of 56
Deficiency of Gp Iib-Iiia Complex 12
Platelet-Type Bleeding Disorder 2 12
Bleeding Disorder Platelet-Type 2 73
Glanzmann Thrombasthenia, Type a 71
Glanzmann Thrombasthenia Type a 52
Deficiency of Gp 2b 3a Complex 52
Diacyclothrombopathia 2b 3a 52
Glanzmann-Naegeli Disorder 25
Hereditary Thrombasthenia 25
Thrombocytasthenia 12
Glanzmann Disease 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2219
OMIM 56 273800
OMIM Phenotypic Series 56 PS231200
KEGG 36 H00226
MeSH 43 D013915
NCIt 49 C61249
SNOMED-CT 67 30577005 32942005
ICD10 32 D69.1
ICD10 via Orphanet 33 D69.1
UMLS via Orphanet 72 C0040015
Orphanet 58 ORPHA849
MedGen 41 C0040015
UMLS 71 C0040015 C3179396

Summaries for Glanzmann Thrombasthenia

Genetics Home Reference : 25 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, also known as thrombasthenia of glanzmann and naegeli, is related to bleeding disorder, platelet-type, 16 and active peptic ulcer disease. An important gene associated with Glanzmann Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are ECM-receptor interaction and Focal adhesion. The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, myeloid and bone, and related phenotypes are prolonged bleeding time and spontaneous, recurrent epistaxis

Disease Ontology : 12 An inherited 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.

NIH Rare Diseases : 52 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 : 56 Glanzmann thrombasthenia 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 platelet surface fibrinogen receptor complex resulting from mutations in either the GPIIb or GPIIIa genes (Rosenberg et al., 1997). See 187800 for discussion of a possible dominant form. (273800)

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 : 73 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 : 74 Glanzmann's thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy... more...

Related Diseases for Glanzmann Thrombasthenia

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

(show top 50) (show all 415)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 34.0 ITGB3 ITGA2B
2 active peptic ulcer disease 31.1 VWF F3 F2
3 autosomal dominant macrothrombocytopenia 31.0 ITGB3 ITGA2B GP1BA
4 angiodysplasia 31.0 VWF F8 F3
5 hemopericardium 30.9 F3 F2
6 fetal and neonatal alloimmune thrombocytopenia 30.9 ITGB3 ITGA2B ITGA2 GP1BA
7 purpura 30.8 VWF SELP ITGB3 ITGA2B GP1BA F3
8 thrombocytopenia due to platelet alloimmunization 30.8 SELP PF4 ITGB3 ITGA2B ITGA2 GP9
9 thrombophilia due to thrombin defect 30.7 PF4 F8 F3 F2
10 thrombasthenia 30.7 VTN THRA THCAT158 SELP PTK2 ITGB3
11 hemarthrosis 30.6 VWF F9 F8 F3 F2
12 factor vii deficiency 30.5 F9 F8 F3 F2 EGF
13 pseudo-von willebrand disease 30.5 VWF GP9 GP1BA F8
14 gray platelet syndrome 30.5 VWF SELP PF4 ITGA2B GP9
15 thrombocytopenic purpura, autoimmune 30.5 SELP ITGB3 ITGA2B GP1BA F8
16 hemophilia a 30.4 VWF F9 F8 F3
17 myeloproliferative neoplasm 30.4 VWF SELP PF4 ITGB3
18 bilirubin metabolic disorder 30.3 F9 F3 F2
19 factor viii deficiency 30.3 VWF F9 F8 F3 F2
20 factor xi deficiency 30.3 VWF F9 F8 F3 F2
21 factor xiii deficiency 30.3 VWF F9 F8 F3 F2
22 acquired von willebrand syndrome 30.3 VWF GP1BA F9 F8 F3
23 qualitative platelet defect 30.2 VWF PF4 ITGA2B GP1BA F3 F2
24 disseminated intravascular coagulation 30.1 VWF F9 F3 F2
25 heart valve disease 30.1 VWF F3 F2
26 hemorrhagic disease 30.0 VWF PF4 GP1BA F9 F8 F3
27 infective endocarditis 30.0 PF4 ITGB3 GP1BA F2
28 prothrombin deficiency 30.0 F9 F8 F3 F2
29 peripheral vascular disease 29.9 VWF SELP PF4 F3 F2
30 pulmonary embolism 29.9 VWF PF4 F9 F8 F3 F2
31 coronary artery anomaly 29.8 SELP PF4 F3 F2
32 thrombocytosis 29.8 VWF SELP PF4 F3 F2
33 thrombophilia 29.7 VWF SELP PF4 ITGB3 F9 F8
34 hypothyroidism 29.4 VWF THRA F9 F8 F3 F2
35 blood platelet disease 29.4 VWF SELP PF4 ITGB3 ITGA2B ITGA2
36 von willebrand's disease 29.3 VWF SELP PF4 ITGB3 ITGA2 GP9
37 cerebrovascular disease 29.2 VWF SELP ITGB3 ITGA2B ITGA2 GP1BA
38 stroke, ischemic 29.1 VWF SELP PF4 GP1BA F3 F2R
39 asthma 29.0 VTN SELP PF4 ITGA2 F3 F2R
40 vascular disease 29.0 VWF VTN SELP PF4 ITGB3 ITGA2B
41 thrombocytopenia 29.0 VWF SELP PF4 ITGB3 ITGA2B ITGA2
42 bernard-soulier syndrome 28.9 VWF SELP ITGB3 ITGA2B ITGA2 GP9
43 thrombosis 28.9 VWF SELP PF4 ITGB3 ITGA2B ITGA2
44 hypertension, essential 28.8 VWF SELP PF4 ITGA2B F3 F2R
45 myocardial infarction 28.5 VWF SELP PF4 ITGB3 ITGA2B ITGA2
46 bleeding disorder, platelet-type, 17 12.0
47 leukocyte adhesion deficiency, type i 11.9
48 gilles de la tourette syndrome 11.8
49 schlegelberger grote syndrome 11.5
50 congenital disorder of glycosylation, type iic 11.5

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



Diseases related to Glanzmann Thrombasthenia

Symptoms & Phenotypes for Glanzmann Thrombasthenia

Human phenotypes related to Glanzmann Thrombasthenia:

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 menorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000132
10 macroscopic hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012587
11 menometrorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0400008
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 intracranial hemorrhage 31 HP:0002170
16 epistaxis 31 HP:0000421
17 impaired platelet aggregation 31 HP:0003540
18 impaired adp-induced platelet aggregation 58 Excluded (0%)
19 impaired epinephrine-induced platelet aggregation 58 Excluded (0%)
20 impaired arachidonic acid-induced platelet aggregation 58 Excluded (0%)
21 impaired thrombin-induced platelet aggregation 58 Excluded (0%)
22 impaired thromboxane a2 agonist-induced platelet aggregation 58 Excluded (0%)
23 impaired collagen-related peptide-induced platelet aggregation 58 Excluded (0%)
24 decreased platelet glycoprotein iib-iiia 31 HP:0001975
25 impaired clot retraction 31 HP:0031126

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
gingival bleeding

Skin Nails Hair Skin:
purpura
easy bruisability

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

Hematology:
abnormal platelet aggregation
glanzmann thrombasthenia
normal platelet count

Neurologic Central Nervous System:
intracranial hemorrhage

Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Abdomen Gastrointestinal:
gi hemorrhage

Clinical features from OMIM:

273800

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 CD47 CD9 F2 F2R F3 F8
2 homeostasis/metabolism MP:0005376 10.3 CD47 CD9 F2 F2R F3 F8
3 cellular MP:0005384 10.23 CD47 CD9 F2R F3 GP1BA ITGA2
4 cardiovascular system MP:0005385 10.22 CD47 F2 F2R F3 F9 ITGA2B
5 immune system MP:0005387 10.17 CD47 CD9 EGF F2 F2R F3
6 digestive/alimentary MP:0005381 10.03 EGF F2 F2R ITGA2B ITGB3 PTK2
7 integument MP:0010771 9.91 CD47 EGF F2 F3 ITGA2 ITGB3
8 neoplasm MP:0002006 9.7 CD47 CD9 F2R F3 ITGB3 PTK2
9 reproductive system MP:0005389 9.61 CD9 EGF F2 F2R F8 ITGA2B
10 respiratory system MP:0005388 9.17 CD47 CD9 F2 F3 ITGB3 PTK2

Drugs & Therapeutics for Glanzmann Thrombasthenia

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
4
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
5 Antirheumatic Agents Phase 2
6 Immunologic Factors Phase 2
7 Anti-Infective Agents Phase 2
8 Antiviral Agents Phase 2
9 Immunosuppressive Agents Phase 2
10 Alkylating Agents Phase 2
11 Antimetabolites Phase 2
12 Vidarabine Phosphate Phase 2
13
Abatacept Approved Phase 1 332348-12-6 10237
14
Mycophenolic acid Approved Phase 1 24280-93-1 446541
15 Cyclosporins Phase 1
16
Aspirin Approved, Vet_approved 50-78-2 2244
17
Ticagrelor Approved 274693-27-5 9871419
18
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
19
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
20
Busulfan Approved, Investigational 55-98-1 2478
21
alemtuzumab Approved, Investigational 216503-57-0
22
Sodium citrate Approved, Investigational 68-04-2
23
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
24 Antifibrinolytic Agents
25 Hemostatics
26 Anti-Inflammatory Agents
27 Fibrinolytic Agents
28 Platelet Aggregation Inhibitors
29 Analgesics, Non-Narcotic
30 Anti-Inflammatory Agents, Non-Steroidal
31 Antipyretics
32 Cyclooxygenase Inhibitors
33 Analgesics
34 Anti-Bacterial Agents
35 Antibodies, Monoclonal
36 interferons
37 Antibiotics, Antitubercular
38 Adjuvants, Immunologic
39 Protective Agents
40 polysaccharide-K
41 Radiation-Protective Agents
42 Interferon Inducers
43 Immunoglobulins
44 Antibodies
45 Antilymphocyte Serum
46 Citrate
47 Factor VIII
48 Dermatologic Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 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
3 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
4 A Post-Marketing, Observational Study in Iran to Determine the Immunogenicity Status in Patients Who Have Received rFVIIa AryoSeven. Unknown status NCT03372993
5 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)
6 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)
7 Treatment of Glanzmann's Thrombasthenia: A Prospective Observational Registry Completed NCT01476423 activated recombinant human factor VII
8 Multicentre Evaluation of a New Laboratory Approach for the Diagnosis of Constitutional Functional Disorders of Platelets Completed NCT01957345
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 Clinical Performance Evaluation of T-TAS 01 PL Chip Recruiting NCT03621020
11 Evaluation of Platelet Surface Glycoproteins in Patients With Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Recruiting NCT03648190
12 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
13 Interest of Sublingual Videomicroscopy for the Prediction of Bleeding in Von Willebrand Disease and Other Constitutional Haemorrhagic Diseases Not yet recruiting NCT04119908
14 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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


recombinant FVIIa

Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

Genetic tests related to Glanzmann Thrombasthenia:

# Genetic test Affiliating Genes
1 Glanzmann Thrombasthenia 29 ITGA2B ITGB3

Anatomical Context for Glanzmann Thrombasthenia

MalaCards organs/tissues related to Glanzmann Thrombasthenia:

40
Skin, Myeloid, Bone, Heart, Liver, Breast, Bone Marrow

Publications for Glanzmann Thrombasthenia

Articles related to Glanzmann Thrombasthenia:

(show top 50) (show all 506)
# Title Authors PMID Year
1
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 54 61 56 6
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). 54 61 56 6
16463284 2006
3
Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia. 54 61 56 6
9845537 1998
4
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 56 6
9160670 1997
5
The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. 54 61 56 6
2014236 1991
6
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. 61 56 6
21487445 2011
7
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. 61 56 6
8282784 1994
8
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. 56 6
1371279 1992
9
Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. 54 61 6
1438206 1992
10
A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. 61 56
12511588 2003
11
Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. 54 6
9734640 1998
12
Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. 61 6
9473221 1998
13
Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. 61 6
9351872 1997
14
A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface. 61 6
9376589 1997
15
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. 61 6
8704171 1996
16
Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization. 61 56
7878622 1994
17
Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. 54 6
1317725 1992
18
Structural integrity of the glycoprotein IIb and IIIa genes in Glanzmann thrombasthenia patients from Israel. 61 56
3179450 1988
19
Type I Glanzmann thrombasthenia patients from the Iraqi-Jewish and Arab populations in Israel can be differentiated by platelet glycoprotein IIIa immunoblot analysis. 61 56
3580574 1987
20
Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets. 61 56
6310559 1982
21
Fanconi and Glanzmann: the men and their works. 56
12472566 2002
22
The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene. 6
7620188 1995
23
A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex. 6
7508443 1994
24
Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. 6
8471765 1993
25
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation. 6
1602006 1992
26
A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. 6
1702098 1991
27
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. 6
2392682 1990
28
Normal synthesis and expression of endothelial IIb/IIIa in Glanzmann's thrombasthenia. 56
3545321 1987
29
A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membrane. 56
3818957 1987
30
Divalent cation regulation of the surface orientation of platelet membrane glycoprotein IIb. Correlation with fibrinogen binding function and definition of a novel variant of Glanzmann's thrombasthenia. 6
2428841 1986
31
Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa. 56
3006053 1986
32
Prenatal diagnosis of Glanzmann's thrombasthenia. 56
2867408 1985
33
Diversity of glycoprotein deficiencies in Glanzmann's thrombasthenia. 56
2935964 1985
34
Complete correction of Glanzmann's thrombasthenia by allogeneic bone-marrow transplantation. 56
3885999 1985
35
Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia. 56
3156640 1985
36
Glycoprotein IIb-IIIa complex in platelets of patients and heterozygotes of Glanzmann's thrombasthenia. 56
6229900 1983
37
Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia. 56
6857142 1983
38
Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood. 56
6822670 1983
39
Type I Glanzmann's thrombasthenia segregates independently of Ss and Duffy systems and the A, B, C, factor B, C2 and C4 loci of the HLA complex. 56
6214871 1982
40
Isolation and structural characterization of the polypeptide subunits of membrane glycoprotein IIb-IIIa from human platelets. 56
7053767 1982
41
Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia. 56
7152371 1982
42
Glanzmann's thrombasthenia. A review and report of 42 cases from South India. 56
7330822 1981
43
Inheritance of the human platelet alloantigen, PlA1, in type I Glanzmann's thrombasthenia. 56
7193688 1981
44
Isolation and quantitation of the platelet membrane glycoprotein deficient in thrombasthenia using a monoclonal hybridoma antibody. 56
6449521 1980
45
Deletion of the platelet-specific alloantigen PlA1 from platelets in Glanzmann's thrombasthenia. 56
566280 1978
46
Platelet membrane defects in Glanzmann's thrombasthenia. Evidence for decreased amounts of two major glycoproteins. 56
70433 1977
47
A molecular defect in thrombasthenic platelets. 56
1141437 1975
48
Human platelets as a source of HL-A antigens : a study of various solubilization techniques. 56
1222125 1975
49
An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. 56
4473996 1974
50
Deficiency of glutathione peroxidase associated with high levels of reduced glutathione in glanzmann's thrombasthenia. 56
4673006 1972

Variations for Glanzmann Thrombasthenia

ClinVar genetic disease variations for Glanzmann Thrombasthenia:

6 (show top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITGA2B NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)SNV Pathogenic 2892 rs137852906 17:42457372-42457372 17:44380004-44380004
2 ITGA2B NM_000419.5(ITGA2B):c.2602-3C>GSNV Pathogenic 2893 rs763330792 17:42453087-42453087 17:44375719-44375719
3 ITGA2B NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp)SNV Pathogenic 2894 rs137852907 17:42461935-42461935 17:44384567-44384567
4 ITGA2B NM_000419.5(ITGA2B):c.1544+1G>ASNV Pathogenic 2895 rs879255509 17:42457753-42457753 17:44380385-44380385
5 ITGA2B NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)SNV Pathogenic 2896 rs137852908 17:42460998-42460998 17:44383630-44383630
6 ITGA2B NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del)deletion Pathogenic 2898 rs780017389 17:42458269-42458274 17:44380901-44380906
7 ITGA2B NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys)SNV Pathogenic 2899 rs137852910 17:42461008-42461008 17:44383640-44383640
8 ITGA2B NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)SNV Pathogenic 2900 rs76811038 17:42457148-42457148 17:44379780-44379780
9 ITGA2B NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro)SNV Pathogenic 2901 rs137852911 17:42462561-42462561 17:44385193-44385193
10 ITGA2B NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)SNV Pathogenic 2902 rs80002943 17:42452100-42452100 17:44374732-44374732
11 ITGA2B NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His)SNV Pathogenic 2903 rs80277041 17:42457057-42457057 17:44379689-44379689
12 ITGB3 NM_000212.2(ITGB3):c.719G>A (p.Arg240Gln)SNV Pathogenic 13553 rs121918444 17:45363730-45363730 17:47286364-47286364
13 ITGB3 NM_000212.2(ITGB3):c.433G>T (p.Asp145Tyr)SNV Pathogenic 13554 rs121918445 17:45361880-45361880 17:47284514-47284514
14 ITGB3 NM_000212.2(ITGB3):c.718C>T (p.Arg240Trp)SNV Pathogenic 13555 rs121918446 17:45363729-45363729 17:47286363-47286363
15 ITGB3 NM_000212.2(ITGB3):c.2332T>C (p.Ser778Pro)SNV Pathogenic 13556 rs121918447 17:45387535-45387535 17:47310169-47310169
16 ITGB3 ITGB3, IVSiDS, G-T, EXiDELdeletion Pathogenic 13560
17 ITGB3 NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr)SNV Pathogenic 13562 rs121918449 17:45368393-45368393 17:47291027-47291027
18 ITGB3 ITGB3, 11.2-KB DELdeletion Pathogenic 13563
19 ITGB3 NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter)SNV Pathogenic 13564 rs121918450 17:45384950-45384950 17:47307584-47307584
20 ITGB3 NM_000212.2(ITGB3):c.1924G>T (p.Glu642Ter)SNV Pathogenic 13565 rs121918451 17:45377854-45377854 17:47300488-47300488
21 ITGB3 ITGB3, 11-BP DEL, EX12deletion Pathogenic 13566
22 ITGB3 NM_000212.2(ITGB3):c.428T>G (p.Leu143Trp)SNV Pathogenic 13567 rs121918452 17:45361875-45361875 17:47284509-47284509
23 ITGB3 NM_000212.2(ITGB3):c.836A>T (p.Lys279Met)SNV Pathogenic 13568 rs79775494 17:45364494-45364494 17:47287128-47287128
24 ITGB3 NM_000212.2(ITGB3):c.740G>A (p.Gly247Asp)SNV Pathogenic 13569 rs79560904 17:45363751-45363751 17:47286385-47286385
25 ITGA2B NM_000419.5(ITGA2B):c.409-2_419deldeletion Pathogenic 2889 rs879255508 17:42463074-42463086 17:44385706-44385718
26 ITGA2B ITGA2B, 4.5-KB DEL, EX2-9deletion Pathogenic 2890
27 ITGA2B NM_000419.5(ITGA2B):c.2094+2T>CSNV Pathogenic 458368 rs1555613692 17:42455728-42455728 17:44378360-44378360
28 ITGA2B NM_000419.5(ITGA2B):c.2992del (p.Trp998fs)deletion Pathogenic 627292 17:42451790-42451790 17:44374422-44374422
29 ITGA2B NM_000419.5(ITGA2B):c.2883del (p.Phe961fs)deletion Pathogenic 627052 17:42452087-42452087 17:44374719-44374719
30 ITGA2B NM_000419.5(ITGA2B):c.559del (p.Val187fs)deletion Pathogenic 627093 17:42462934-42462934 17:44385566-44385566
31 ITGB3 NM_000212.2(ITGB3):c.1409dup (p.Asn470fs)duplication Pathogenic 627234 17:45369651-45369652 17:47292285-47292286
32 ITGA2B NM_000419.5(ITGA2B):c.1440-1G>ASNV Pathogenic 627239 17:42457859-42457859 17:44380491-44380491
33 ITGB3 NM_000212.2(ITGB3):c.433G>A (p.Asp145Asn)SNV Pathogenic 627066 17:45361880-45361880 17:47284514-47284514
34 ITGA2B NM_000419.5(ITGA2B):c.409-1G>ASNV Pathogenic 627063 17:42463085-42463085 17:44385717-44385717
35 ITGA2B NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)SNV Pathogenic 691627 17:42458294-42458294 17:44380926-44380926
36 ITGB3 NM_000212.3(ITGB3):c.727G>C (p.Asp243His)SNV Likely pathogenic 800945 17:45363738-45363738 17:47286372-47286372
37 ITGB3 NM_000212.2(ITGB3):c.761A>G (p.Gln254Arg)SNV Likely pathogenic 627131 17:45363772-45363772 17:47286406-47286406
38 ITGB3 NM_000212.2(ITGB3):c.1366A>C (p.Thr456Pro)SNV Likely pathogenic 626993 17:45369610-45369610 17:47292244-47292244
39 ITGA2B NM_000419.5(ITGA2B):c.574+5G>ASNV Likely pathogenic 627098 17:42462914-42462914 17:44385546-44385546
40 ITGA2B NM_000419.5(ITGA2B):c.1211-1G>CSNV Likely pathogenic 626981 17:42458430-42458430 17:44381062-44381062
41 ITGB3 NM_000212.2(ITGB3):c.55dup (p.Ala19fs)duplication Likely pathogenic 627094 17:45331277-45331278 17:47253911-47253912
42 ITGA2B NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala)SNV Likely pathogenic 627284 17:42453295-42453295 17:44375927-44375927
43 ITGA2B NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)SNV Likely pathogenic 626927 17:42453680-42453680 17:44376312-44376312
44 ITGA2B NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)SNV Likely pathogenic 627020 17:42457163-42457163 17:44379795-44379795
45 ITGA2B NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)SNV Likely pathogenic 627218 17:42460885-42460885 17:44383517-44383517
46 ITGA2B NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln)deletion Likely pathogenic 626948 17:42461058-42461066 17:44383690-44383698
47 ITGA2B NM_000419.5(ITGA2B):c.1946+1G>ASNV Likely pathogenic 569057 rs746091910 17:42456010-42456010 17:44378642-44378642
48 ITGB3 NM_000212.3(ITGB3):c.325del (p.Val109fs)deletion Likely pathogenic 623142 rs1567764064 17:45360879-45360879 17:47283513-47283513
49 ITGB3 NM_000212.2(ITGB3):c.778-2A>GSNV Likely pathogenic 623143 rs749261962 17:45364434-45364434 17:47287068-47287068
50 ITGA2B NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)SNV Likely pathogenic 225393 rs74475415 17:42453691-42453691 17:44376323-44376323

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

73 (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

Expression for Glanzmann Thrombasthenia

Search GEO for disease gene expression data for Glanzmann Thrombasthenia.

Pathways for Glanzmann Thrombasthenia

Pathways related to Glanzmann Thrombasthenia according to KEGG:

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

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

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 VTN PTK2 PF4 ITGB3 ITGA2B ITGA2
2
Show member pathways
12.93 VWF VTN PTK2 ITGB3 ITGA2B ITGA2
3
Show member pathways
12.86 VWF VTN PTK2 ITGB3 ITGA2B ITGA2
4
Show member pathways
12.8 PTK2 ITGB3 ITGA2B ITGA2 F2R F2
5 12.79 PTK2 ITGA2B ITGA2 F2R F2 EGF
6
Show member pathways
12.71 VTN ITGB3 ITGA2B ITGA2 CD47
7
Show member pathways
12.64 PTK2 ITGB3 ITGA2B ITGA2 EGF
8
Show member pathways
12.63 VWF SELP PTK2 PF4 ITGB3 ITGA2B
9 12.58 PTK2 ITGB3 ITGA2B ITGA2 F2R F2
10
Show member pathways
12.53 VTN PTK2 ITGB3 ITGA2
11
Show member pathways
12.44 VTN PTK2 ITGB3 ITGA2
12
Show member pathways
12.36 VTN PTK2 ITGB3 EGF
13 12.26 VTN PTK2 ITGB3 ITGA2
14
Show member pathways
12.21 SELP PF4 ITGB3 F2 CD47
15
Show member pathways
12.17 PTK2 ITGB3 ITGA2B ITGA2
16
Show member pathways
12.12 VWF VTN ITGB3 ITGA2B ITGA2 GP9
17 12.11 VWF VTN F9 F8 F3 F2R
18 11.95 ITGB3 ITGA2B ITGA2 GP1BA
19 11.95 VWF ITGB3 ITGA2B ITGA2 GP9 GP1BA
20 11.91 ITGB3 ITGA2B ITGA2 GP9 GP1BA CD9
21
Show member pathways
11.9 VWF PTK2 ITGB3 ITGA2B GP9 GP1BA
22 11.81 PTK2 ITGA2B ITGA2
23 11.81 VTN ITGB3 ITGA2B ITGA2
24
Show member pathways
11.81 VWF PF4 GP9 GP1BA F9 F8
25 11.79 VWF ITGB3 F3
26 11.7 VTN PTK2 ITGB3
27 11.7 PTK2 ITGB3 ITGA2B ITGA2 EGF
28 11.59 VTN ITGB3 ITGA2B ITGA2
29 11.51 ITGB3 ITGA2B EGF
30 11.49 PTK2 ITGB3 ITGA2B ITGA2
31 11.49 ITGB3 ITGA2B GP9
32 11.49 VTN SELP GP1BA
33 11.46 VTN ITGB3 CD47
34 11.41 VWF ITGB3 ITGA2B ITGA2 GP9 F2R
35 11.4 VTN ITGB3 ITGA2
36 11.31 ITGB3 ITGA2B EGF
37 10.99 PTK2 PF4 ITGB3 ITGA2B ITGA2 EGF
38 10.87 VWF ITGA2 GP9 GP1BA
39 10.85 F9 F2
40 10.74 PTK2 ITGB3
41 10.7 VWF GP9 GP1BA

GO Terms for Glanzmann Thrombasthenia

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.18 VWF VTN PF4 F9 F8 F3
2 extracellular exosome GO:0070062 10.13 VWF VTN ITGB3 ITGA2B GP1BA F9
3 integral component of plasma membrane GO:0005887 10.07 SELP ITGB3 GP9 GP1BA F2R CD9
4 extracellular space GO:0005615 10.07 VTN SELP PF4 GP1BA F9 F8
5 plasma membrane GO:0005886 10.03 SELP PTK2 ITGB3 ITGA2B ITGA2 GP9
6 focal adhesion GO:0005925 9.91 PTK2 ITGB3 ITGA2B ITGA2 CD9
7 external side of plasma membrane GO:0009897 9.89 SELP ITGA2B ITGA2 F2 CD9
8 collagen-containing extracellular matrix GO:0062023 9.8 VWF VTN PF4 F9 F3 F2
9 integrin complex GO:0008305 9.58 ITGB3 ITGA2B ITGA2
10 platelet alpha granule lumen GO:0031093 9.56 VWF PF4 F8 EGF
11 cell surface GO:0009986 9.56 ITGB3 ITGA2B ITGA2 GP1BA F3 F2R
12 alphav-beta3 integrin-vitronectin complex GO:0071062 9.46 VTN ITGB3
13 platelet alpha granule membrane GO:0031092 8.92 SELP ITGB3 ITGA2B CD9

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.07 VWF VTN SELP ITGB3 ITGA2B ITGA2
2 positive regulation of cell proliferation GO:0008284 10.02 PTK2 F2R F2 EGF CD47
3 extracellular matrix organization GO:0030198 9.95 VWF VTN PTK2 ITGB3 ITGA2B ITGA2
4 platelet degranulation GO:0002576 9.92 VWF SELP PF4 ITGB3 ITGA2B F8
5 positive regulation of cell migration GO:0030335 9.9 PTK2 F3 F2R EGF
6 leukocyte migration GO:0050900 9.87 SELP ITGB3 F2 CD47
7 cell-matrix adhesion GO:0007160 9.84 VTN ITGB3 ITGA2B ITGA2
8 integrin-mediated signaling pathway GO:0007229 9.83 PTK2 ITGB3 ITGA2B ITGA2 CD47
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.81 SELP PTK2 F2R F2
10 platelet activation GO:0030168 9.81 VWF PF4 ITGB3 GP9 GP1BA F8
11 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.8 VTN ITGB3 EGF
12 response to wounding GO:0009611 9.77 VWF F2R F2
13 regulation of megakaryocyte differentiation GO:0045652 9.75 PF4 ITGA2B GP1BA
14 platelet aggregation GO:0070527 9.73 ITGB3 ITGA2B GP1BA
15 blood coagulation, intrinsic pathway GO:0007597 9.73 VWF GP9 GP1BA F9 F8 F2
16 positive regulation of collagen biosynthetic process GO:0032967 9.72 ITGA2 F2R F2
17 cell adhesion mediated by integrin GO:0033627 9.7 VTN ITGB3 ITGA2
18 cell-substrate adhesion GO:0031589 9.67 VWF ITGB3 ITGA2
19 positive regulation of leukocyte migration GO:0002687 9.65 SELP ITGA2B ITGA2
20 blood coagulation GO:0007596 9.65 VWF ITGB3 ITGA2 GP9 GP1BA F9
21 positive regulation of ubiquitin-dependent protein catabolic process GO:2000060 9.63 PTK2 EGF
22 positive regulation of blood coagulation GO:0030194 9.63 F2R F2
23 regulation of blood coagulation GO:0030193 9.63 GP1BA F2R F2
24 mesodermal cell differentiation GO:0048333 9.61 ITGB3 ITGA2
25 positive regulation of positive chemotaxis GO:0050927 9.61 ITGA2 F3
26 thrombin-activated receptor signaling pathway GO:0070493 9.58 GP1BA F2R
27 hemostasis GO:0007599 9.23 VWF GP9 GP1BA F9 F8 F3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 VWF VTN THRA SELP PTK2 PF4
2 heparin binding GO:0008201 9.67 VTN SELP PF4 F2
3 protease binding GO:0002020 9.58 VWF ITGB3 F3
4 fibrinogen binding GO:0070051 9.32 ITGB3 ITGA2B
5 thrombin-activated receptor activity GO:0015057 9.26 GP1BA F2R
6 thrombospondin receptor activity GO:0070053 9.16 F2 CD47
7 integrin binding GO:0005178 9.02 VWF VTN ITGB3 ITGA2 CD9

Sources for Glanzmann Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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