GT
MCID: GLN010
MIFTS: 67

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 58 12 77 54 26 60 76 38 30 13 56 6
Thrombasthenia of Glanzmann and Naegeli 58 12 54 76
Deficiency of Platelet Fibrinogen Receptor 12 26 76
Platelet Glycoprotein Iib-Iiia Deficiency 58 12 76
Glanzmann's Thrombasthenia 12 15 41
Bdplt2 58 12 76
Gt 58 54 76
Platelet Fibrinogen Receptor, Deficiency of 58 54
Deficiency of Glycoprotein Complex Iib-Iiia 12 26
Glycoprotein Iib/iiia Defect 12 26
Thrombasthenia 45 74
Glycoprotein Complex Iib-Iiia, Deficiency of 58
Bleeding Disorder, Platelet-Type, 2; Bdplt2 58
Platelet Fibrinogen Receptor Deficiency 26
Platelet Glycoprotein 2b 3a Deficiency 54
Hereditary Hemorrhagic Thrombasthenia 26
Bleeding Disorder, Platelet-Type, 2 58
Gp Iib-Iiia Complex, Deficiency of 58
Deficiency of Gp Iib-Iiia Complex 12
Platelet-Type Bleeding Disorder 2 12
Bleeding Disorder Platelet-Type 2 76
Glanzmann Thrombasthenia, Type a 74
Glanzmann Thrombasthenia Type a 54
Deficiency of Gp 2b 3a Complex 54
Diacyclothrombopathia 2b 3a 54
Glanzmann-Naegeli Disorder 26
Hereditary Thrombasthenia 26
Thrombocytasthenia 12
Glanzmann Disease 26

Characteristics:

Orphanet epidemiological data:

60
glanzmann thrombasthenia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
glanzmann thrombasthenia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2219
OMIM 58 273800
KEGG 38 H00226
MeSH 45 D013915
NCIt 51 C61249
SNOMED-CT 69 30577005 32942005
ICD10 34 D69.1
ICD10 via Orphanet 35 D69.1
UMLS via Orphanet 75 C0040015
Orphanet 60 ORPHA849
MedGen 43 C0040015

Summaries for Glanzmann Thrombasthenia

NIH Rare Diseases : 54 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.

MalaCards based summary : Glanzmann Thrombasthenia, also known as thrombasthenia of glanzmann and naegeli, is related to bleeding disorder, platelet-type, 16 and leukocyte adhesion deficiency, type iii. An important gene associated with Glanzmann Thrombasthenia is ITGB3 (Integrin Subunit Beta 3), and among its related pathways/superpathways are ECM-receptor interaction and Focal adhesion. The drugs Vidarabine and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and myeloid, 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.

Genetics Home Reference : 26 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 252)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 33.6 ITGA2B ITGB3
2 leukocyte adhesion deficiency, type iii 31.9 F2R ITGA2B SELP
3 thrombasthenia 30.9 F2 F3 GP1BA GP9 ITGA2 ITGA2B
4 thrombocytopenia 30.4 F3 GP1BA GP9 ITGA2 ITGA2B ITGB3
5 thrombophilia due to thrombin defect 30.3 F2 F3 F8 VWF
6 hemarthrosis 30.3 F8 F9 VWF
7 factor xi deficiency 30.3 F2 F3 F9
8 prothrombin deficiency 30.2 F2 F3
9 thrombocytopenia due to platelet alloimmunization 30.1 GP9 ITGA2 ITGA2B ITGB3 SELP
10 infective endocarditis 30.0 F2 GP1BA ITGB3
11 purpura 29.9 F2 F3 ITGA2B ITGB3 VWF
12 pulmonary embolism 29.9 F2 F3 F9 VWF
13 acquired von willebrand syndrome 29.8 F8 F9 GP1BA VWF
14 arteries, anomalies of 29.6 F3 ITGA2B SELP VWF
15 hemophilia 29.6 F2 F3 F8 F9 VWF
16 von willebrand's disease 29.5 F2 F3 F8 F9 GP1BA SELP
17 thrombosis 29.4 F2 F3 F8 F9 GP1BA SELP
18 bernard-soulier syndrome 28.5 CD9 F2 F2R F8 GP1BA GP9
19 myocardial infarction 28.2 F2 F2R F3 F8 GP1BA ITGA2
20 blood platelet disease 28.1 F2 F2R F3 F8 GP1BA GP9
21 bleeding disorder, platelet-type, 17 11.9
22 gilles de la tourette syndrome 11.8
23 schlegelberger grote syndrome 11.4
24 leukocyte adhesion deficiency, type i 11.4
25 congenital disorder of glycosylation, type iic 11.4
26 mitochondrial dna depletion syndrome 7 11.4
27 cholestasis, benign recurrent intrahepatic, 1 11.3
28 cholestasis, progressive familial intrahepatic, 1 11.1
29 focal facial dermal dysplasia 3, setleis type 11.1
30 kleefstra syndrome 11.1
31 perry syndrome 10.9
32 ritscher-schinzel syndrome 1 10.9
33 bile acid synthesis defect, congenital, 2 10.9
34 hyperparathyroidism, neonatal severe 10.9
35 mucopolysaccharidosis, type vi 10.9
36 myopathy, lactic acidosis, and sideroblastic anemia 1 10.9
37 acromesomelic dysplasia, maroteaux type 10.9
38 bile acid synthesis defect, congenital, 1 10.9
39 mitochondrial trifunctional protein deficiency 10.9
40 trichotillomania 10.9
41 adenine phosphoribosyltransferase deficiency 10.9
42 primary hypomagnesemia 10.9
43 prothrombin-related thrombophilia 10.9
44 distal myopathy with vocal cord weakness 10.9
45 glucagonoma 10.9
46 paroxysmal hemicrania 10.9
47 pulmonary arterio-veinous fistula 10.9
48 spastic paraplegia 31 10.9
49 staphylococcal toxic shock syndrome 10.9
50 testicular seminoma 10.9

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged bleeding time 60 33 hallmark (90%) Very frequent (99-80%) HP:0003010
2 spontaneous, recurrent epistaxis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004406
3 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
4 gingival bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0000225
5 prolonged bleeding after surgery 60 33 frequent (33%) Frequent (79-30%) HP:0004846
6 prolonged bleeding following circumcision 60 33 frequent (33%) Frequent (79-30%) HP:0030137
7 spontaneous hematomas 60 33 occasional (7.5%) Occasional (29-5%) HP:0007420
8 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
9 menorrhagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000132
10 macroscopic hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0012587
11 menometrorrhagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0400008
12 ecchymosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0031364
13 impaired ristocetin-induced platelet aggregation 60 33 very rare (1%) Very rare (<4-1%) HP:0011871
14 purpura 60 33 Occasional (29-5%) HP:0000979
15 epistaxis 33 HP:0000421
16 intracranial hemorrhage 33 HP:0002170
17 impaired adp-induced platelet aggregation 60 Excluded (0%)
18 impaired epinephrine-induced platelet aggregation 60 Excluded (0%)
19 impaired arachidonic acid-induced platelet aggregation 60 Excluded (0%)
20 impaired thrombin-induced platelet aggregation 60 Excluded (0%)
21 impaired thromboxane a2 agonist-induced platelet aggregation 60 Excluded (0%)
22 impaired collagen-related peptide-induced platelet aggregation 60 Excluded (0%)
23 impaired platelet aggregation 33 HP:0003540
24 decreased platelet glycoprotein iib-iiia 33 HP:0001975
25 impaired clot retraction 33 HP:0031126

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 CD9 F2 F2R F3 F8 F9
2 cellular MP:0005384 10.07 CD9 F2R F3 FN1 GP1BA ITGA2
3 cardiovascular system MP:0005385 10.06 F2 F2R F3 F9 FN1 ITGA2B
4 homeostasis/metabolism MP:0005376 9.97 F2 F2R F3 F8 F9 FN1
5 embryo MP:0005380 9.87 F2 F2R F3 F9 FN1 ITGA2B
6 immune system MP:0005387 9.7 CD9 F2 F2R F3 F8 F9
7 reproductive system MP:0005389 9.17 CD9 F2 F2R F8 FN1 ITGA2B

Drugs & Therapeutics for Glanzmann Thrombasthenia

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
2
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
3
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 50-18-0, 6055-19-2 2907
4
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
5 Anti-Infective Agents Phase 2
6 Vidarabine Phosphate Phase 2
7 Alkylating Agents Phase 2
8 Immunologic Factors Phase 2,Phase 1,Not Applicable
9 Antirheumatic Agents Phase 2,Phase 1
10 Antiviral Agents Phase 2
11 Immunosuppressive Agents Phase 2,Phase 1
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15
Abatacept Approved Phase 1 332348-12-6 10237
16
Mycophenolic acid Approved Phase 1 24280-93-1 446541
17 Cyclosporins Phase 1
18
Aspirin Approved, Vet_approved 50-78-2 2244
19
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 27284 23925
20
alemtuzumab Approved, Investigational Not Applicable 216503-57-0
21
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
22 Antifibrinolytic Agents
23 Hemostatics
24 polysaccharide-K
25 Radiation-Protective Agents
26 Protective Agents
27 Antibodies, Monoclonal
28 Antibiotics, Antitubercular
29 Anti-Bacterial Agents
30 Interferon Inducers
31 Immunoglobulins
32 interferons
33 Antibodies
34 Platelet Aggregation Inhibitors
35 Adjuvants, Immunologic
36 Antilymphocyte Serum Not Applicable
37 Dermatologic Agents Not Applicable

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male Subjects Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
3 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
4 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
5 Observational Registry of the Treatment of Glanzmann's Thrombasthenia Completed NCT01476423 activated recombinant human factor VII
6 A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
7 Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in Germany Completed NCT00697320 eptacog alfa (activated)
8 Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets Completed NCT01957345 Not Applicable
9 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
10 Platelet Glycoproteins in Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Recruiting NCT03648190
11 Clinical Performance Evaluation of T-TAS 01 PL Chip Recruiting NCT03621020
12 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
13 Prospective, Non-interventional Study to Evaluate Immunogenicity of AryoSeven Enrolling by invitation NCT03372993
14 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Glanzmann Thrombasthenia

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

Genetic tests related to Glanzmann Thrombasthenia:

# Genetic test Affiliating Genes
1 Glanzmann Thrombasthenia 30 ITGA2B ITGB3

Anatomical Context for Glanzmann Thrombasthenia

MalaCards organs/tissues related to Glanzmann Thrombasthenia:

42
Skin, Bone, Myeloid, Bone Marrow, T Cells, Testes, Whole Blood

Publications for Glanzmann Thrombasthenia

Articles related to Glanzmann Thrombasthenia:

(show top 50) (show all 250)
# Title Authors Year
1
A unique phenotype of acquired Glanzmann thrombasthenia due to non-function-blocking anti-αIIbβ3 autoantibodies. ( 30388316 )
2019
2
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. ( 31088191 )
2019
3
Perioperative Hemostatic Management of a Pediatric Patient with Glanzmann Thrombasthenia Undergoing Osteoplastic Craniotomy and Hematoma Removal: A Case Report. ( 31085914 )
2019
4
Sphenopalatine Artery Ligation for Life-Threatening Epistaxis in a 4-Year-Old Child With Glanzmann Thrombasthenia. ( 31079481 )
2019
5
Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs. ( 31010659 )
2019
6
First description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia. ( 30868743 )
2019
7
Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations. ( 30819996 )
2019
8
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. ( 30792900 )
2019
9
Glanzmann Thrombasthenia in Children: Experience From a Tertiary Care Center in Southern India. ( 30789846 )
2019
10
Oral tranexamic acid associated with platelet transfusion to prevent hemorrhage in a patient with Glanzmann thrombasthenia. ( 30644834 )
2019
11
Low Concentrations of Recombinant Factor VIIa May Improve the Impaired Thrombin Generation of Glanzmann Thrombasthenia Patients. ( 30597506 )
2019
12
Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report. ( 30534006 )
2018
13
How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. ( 30117143 )
2018
14
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2018
15
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. ( 29125375 )
2018
16
Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient. ( 29185819 )
2018
17
In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia. ( 29385657 )
2018
18
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations. ( 29439184 )
2018
19
Perioperative management of a patient with Glanzmann thrombasthenia undergoing a coronary artery bypass graft surgery: a case report. ( 29474205 )
2018
20
Anti-αIIb β3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations. ( 29611179 )
2018
21
Correction of coagulopathy in thrombocytopenia and Glanzmann thrombasthenia models by fibrinogen and factor XIII as assessed by thromboelastometry. ( 29805054 )
2018
22
Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond. ( 29884513 )
2018
23
Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia. ( 29945125 )
2018
24
Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran. ( 29951177 )
2018
25
Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia. ( 29985398 )
2018
26
A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures. ( 30078718 )
2018
27
From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia. ( 30216638 )
2018
28
Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population. ( 30325339 )
2018
29
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease. ( 30551951 )
2018
30
Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia. ( 30756012 )
2018
31
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
32
Novel mutations in Thai patients with glanzmann thrombasthenia. ( 28888044 )
2017
33
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms. ( 28948953 )
2017
34
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. ( 29152293 )
2017
35
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ( 27696190 )
2017
36
No genetic abnormalities identified in α2IIb and β3: phenotype overcomes genotype in Glanzmann thrombasthenia. ( 27808476 )
2017
37
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
38
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
39
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
40
Unusual redo mitral valve replacement for bleeding in Glanzmann thrombasthenia. ( 24904176 )
2016
41
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. ( 26096001 )
2016
42
Stem Cell Transplant in Severe Glanzmann Thrombasthenia in an Adult Patient. ( 26134714 )
2016
43
Acute Epidural Hematoma Following Acute Subdural Hematoma Evacuation in a Child With Glanzmann Thrombasthenia. ( 26421897 )
2016
44
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
45
Live birth following an intracytoplasmic sperm injection in a patient with Glanzmann thrombasthenia. ( 26466915 )
2016
46
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. ( 26764135 )
2016
47
New Insights Into the Treatment of Glanzmann Thrombasthenia. ( 26968829 )
2016
48
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. ( 27469266 )
2016
49
Efficacy of tranexamic acid for the prevention of bleeding in patients with von Willebrand disease and Glanzmann thrombasthenia: a controlled, before and after trial. ( 27478149 )
2016
50
Glanzmann Thrombasthenia: A Clinicopathological Profile. ( 27539755 )
2016

Variations for Glanzmann Thrombasthenia

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

76 (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

ClinVar genetic disease variations for Glanzmann Thrombasthenia:

6 (show top 50) (show all 254)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGA2B NM_000419.4(ITGA2B): c.409-2_419delAGGCCTGCGCCCC deletion Pathogenic rs879255508 GRCh37 Chromosome 17, 42463074: 42463086
2 ITGA2B NM_000419.4(ITGA2B): c.409-2_419delAGGCCTGCGCCCC deletion Pathogenic rs879255508 GRCh38 Chromosome 17, 44385706: 44385718
3 ITGA2B ITGA2B, 4.5-KB DEL, EX2-9 deletion Pathogenic
4 ITGA2B NM_000419.4(ITGA2B): c.2621T> G (p.Ile874Ser) single nucleotide variant Benign rs5911 GRCh37 Chromosome 17, 42453065: 42453065
5 ITGA2B NM_000419.4(ITGA2B): c.2621T> G (p.Ile874Ser) single nucleotide variant Benign rs5911 GRCh38 Chromosome 17, 44375697: 44375697
6 ITGA2B NM_000419.4(ITGA2B): c.1750C> T (p.Arg584Ter) single nucleotide variant Pathogenic rs137852906 GRCh37 Chromosome 17, 42457372: 42457372
7 ITGA2B NM_000419.4(ITGA2B): c.1750C> T (p.Arg584Ter) single nucleotide variant Pathogenic rs137852906 GRCh38 Chromosome 17, 44380004: 44380004
8 ITGA2B NM_000419.4(ITGA2B): c.2602-3C> G single nucleotide variant Pathogenic rs763330792 GRCh37 Chromosome 17, 42453087: 42453087
9 ITGA2B NM_000419.4(ITGA2B): c.2602-3C> G single nucleotide variant Pathogenic rs763330792 GRCh38 Chromosome 17, 44375719: 44375719
10 ITGA2B NM_000419.4(ITGA2B): c.818G> A (p.Gly273Asp) single nucleotide variant Pathogenic rs137852907 GRCh37 Chromosome 17, 42461935: 42461935
11 ITGA2B NM_000419.4(ITGA2B): c.818G> A (p.Gly273Asp) single nucleotide variant Pathogenic rs137852907 GRCh38 Chromosome 17, 44384567: 44384567
12 ITGA2B NM_000419.4(ITGA2B): c.1544+1G> A single nucleotide variant Pathogenic rs879255509 GRCh37 Chromosome 17, 42457753: 42457753
13 ITGA2B NM_000419.4(ITGA2B): c.1544+1G> A single nucleotide variant Pathogenic rs879255509 GRCh38 Chromosome 17, 44380385: 44380385
14 ITGA2B NM_000419.4(ITGA2B): c.1073G> A (p.Arg358His) single nucleotide variant Pathogenic rs137852908 GRCh37 Chromosome 17, 42460998: 42460998
15 ITGA2B NM_000419.4(ITGA2B): c.1073G> A (p.Arg358His) single nucleotide variant Pathogenic rs137852908 GRCh38 Chromosome 17, 44383630: 44383630
16 ITGA2B NM_000419.4(ITGA2B): c.1253G> A (p.Gly418Asp) single nucleotide variant Pathogenic rs137852909 GRCh37 Chromosome 17, 42458387: 42458387
17 ITGA2B NM_000419.4(ITGA2B): c.1253G> A (p.Gly418Asp) single nucleotide variant Pathogenic rs137852909 GRCh38 Chromosome 17, 44381019: 44381019
18 ITGA2B NM_000419.4(ITGA2B): c.1366_1371delGTAGAC (p.Val456_Asp457del) deletion Pathogenic rs780017389 GRCh37 Chromosome 17, 42458269: 42458274
19 ITGA2B NM_000419.4(ITGA2B): c.1366_1371delGTAGAC (p.Val456_Asp457del) deletion Pathogenic rs780017389 GRCh38 Chromosome 17, 44380901: 44380906
20 ITGA2B NM_000419.4(ITGA2B): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs137852910 GRCh37 Chromosome 17, 42461008: 42461008
21 ITGA2B NM_000419.4(ITGA2B): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs137852910 GRCh38 Chromosome 17, 44383640: 44383640
22 ITGA2B NM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr) single nucleotide variant Pathogenic rs76811038 GRCh37 Chromosome 17, 42457148: 42457148
23 ITGA2B NM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr) single nucleotide variant Pathogenic rs76811038 GRCh38 Chromosome 17, 44379780: 44379780
24 ITGA2B NM_000419.4(ITGA2B): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs137852911 GRCh37 Chromosome 17, 42462561: 42462561
25 ITGA2B NM_000419.4(ITGA2B): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs137852911 GRCh38 Chromosome 17, 44385193: 44385193
26 ITGA2B NM_000419.4(ITGA2B): c.2870C> T (p.Ser957Leu) single nucleotide variant Pathogenic rs80002943 GRCh37 Chromosome 17, 42452100: 42452100
27 ITGA2B NM_000419.4(ITGA2B): c.2870C> T (p.Ser957Leu) single nucleotide variant Pathogenic rs80002943 GRCh38 Chromosome 17, 44374732: 44374732
28 ITGA2B NM_000419.4(ITGA2B): c.1878G> C (p.Gln626His) single nucleotide variant Pathogenic rs80277041 GRCh37 Chromosome 17, 42457057: 42457057
29 ITGA2B NM_000419.4(ITGA2B): c.1878G> C (p.Gln626His) single nucleotide variant Pathogenic rs80277041 GRCh38 Chromosome 17, 44379689: 44379689
30 ITGB3 NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln) single nucleotide variant Pathogenic rs121918444 GRCh37 Chromosome 17, 45363730: 45363730
31 ITGB3 NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln) single nucleotide variant Pathogenic rs121918444 GRCh38 Chromosome 17, 47286364: 47286364
32 ITGB3 NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr) single nucleotide variant Pathogenic rs121918445 GRCh37 Chromosome 17, 45361880: 45361880
33 ITGB3 NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr) single nucleotide variant Pathogenic rs121918445 GRCh38 Chromosome 17, 47284514: 47284514
34 ITGB3 NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp) single nucleotide variant Pathogenic rs121918446 GRCh37 Chromosome 17, 45363729: 45363729
35 ITGB3 NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp) single nucleotide variant Pathogenic rs121918446 GRCh38 Chromosome 17, 47286363: 47286363
36 ITGB3 NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro) single nucleotide variant Pathogenic rs121918447 GRCh37 Chromosome 17, 45387535: 45387535
37 ITGB3 NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro) single nucleotide variant Pathogenic rs121918447 GRCh38 Chromosome 17, 47310169: 47310169
38 ITGB3 NM_000212.2(ITGB3): c.176T> C (p.Leu59Pro) single nucleotide variant risk factor rs5918 GRCh37 Chromosome 17, 45360730: 45360730
39 ITGB3 NM_000212.2(ITGB3): c.176T> C (p.Leu59Pro) single nucleotide variant risk factor rs5918 GRCh38 Chromosome 17, 47283364: 47283364
40 ITGB3 ITGB3, IVSiDS, G-T, EXiDEL deletion Pathogenic
41 ITGB3 NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs121918449 GRCh37 Chromosome 17, 45368393: 45368393
42 ITGB3 NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs121918449 GRCh38 Chromosome 17, 47291027: 47291027
43 ITGB3 ITGB3, 11.2-KB DEL deletion Pathogenic
44 ITGB3 NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs121918450 GRCh37 Chromosome 17, 45384950: 45384950
45 ITGB3 NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs121918450 GRCh38 Chromosome 17, 47307584: 47307584
46 ITGB3 NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter) single nucleotide variant Pathogenic rs121918451 GRCh37 Chromosome 17, 45377854: 45377854
47 ITGB3 NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter) single nucleotide variant Pathogenic rs121918451 GRCh38 Chromosome 17, 47300488: 47300488
48 ITGB3 ITGB3, 11-BP DEL, EX12 deletion Pathogenic
49 ITGB3 NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp) single nucleotide variant Pathogenic rs121918452 GRCh37 Chromosome 17, 45361875: 45361875
50 ITGB3 NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp) single nucleotide variant Pathogenic rs121918452 GRCh38 Chromosome 17, 47284509: 47284509

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:

38
# 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
13.32 F2 F2R FN1 ITGA2 ITGA2B ITGB3
2
Show member pathways
12.94 F2R FN1 ITGA2 ITGA2B ITGB3 VTN
3
Show member pathways
12.84 F2 F2R FN1 ITGA2 ITGA2B ITGB3
4
Show member pathways
12.83 FN1 ITGA2 ITGA2B ITGB3 VTN VWF
5
Show member pathways
12.68 FN1 ITGA2 ITGA2B ITGB3 VTN
6 12.59 F2 F2R FN1 ITGA2 ITGA2B ITGB3
7
Show member pathways
12.55 CD9 F2 F2R F3 F8 F9
8
Show member pathways
12.53 FN1 ITGA2 ITGB3 VTN
9
Show member pathways
12.24 FN1 ITGA2B ITGB3 VWF
10 12.24 FN1 ITGA2 ITGB3 VTN
11
Show member pathways
12.18 F2 FN1 ITGB3 SELP
12
Show member pathways
12.15 F2 F2R FN1 ITGA2 ITGA2B ITGB3
13 12.09 F2 F2R F3 F8 F9 VTN
14
Show member pathways
12.06 F2 F2R F3 F8 F9 GP1BA
15
Show member pathways
12.03 FN1 ITGA2B ITGB3 VWF
16 12.01 F2R GP1BA GP9 ITGA2 ITGA2B ITGB3
17 11.96 FN1 ITGA2 ITGB3
18
Show member pathways
11.95 FN1 GP1BA GP9 ITGA2 ITGA2B ITGB3
19 11.94 GP1BA ITGA2 ITGA2B ITGB3
20
Show member pathways
11.93 ITGA2 ITGA2B ITGB3
21 11.9 CD9 GP1BA GP9 ITGA2 ITGA2B ITGB3
22 11.86 ITGA2 ITGA2B ITGB3
23
Show member pathways
11.86 F2 FN1 GP1BA GP9 ITGA2B ITGB3
24 11.8 FN1 ITGA2 ITGA2B
25 11.8 FN1 ITGA2 ITGA2B ITGB3 VTN
26 11.77 F3 ITGB3 VWF
27 11.59 ITGA2 ITGA2B ITGB3 VTN
28 11.54 ITGA2 ITGA2B ITGB3
29 11.49 FN1 GP1BA SELP VTN
30 11.47 GP9 ITGA2B ITGB3
31 11.45 FN1 ITGB3 VTN
32 11.4 FN1 ITGA2 ITGB3 VTN
33 11.33 FN1 ITGA2 ITGA2B
34 11.21 F2 F2R GP9 ITGA2 ITGA2B ITGB3
35 11.12 ITGA2B ITGB3
36 11.08 F2 F2R
37 11.03 FN1 ITGA2
38 10.99 ITGA2B ITGB3
39 10.87 GP1BA GP9 ITGA2 VWF
40 10.83 F2 F9
41 10.7 GP1BA GP9 VWF

GO Terms for Glanzmann Thrombasthenia

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 CD9 F2 F9 FN1 GP1BA ITGA2B
2 focal adhesion GO:0005925 9.86 CD9 ITGA2 ITGA2B ITGB3
3 endoplasmic reticulum lumen GO:0005788 9.83 F2 F8 F9 FN1
4 extracellular space GO:0005615 9.81 CD9 F2 F3 F8 F9 FN1
5 collagen-containing extracellular matrix GO:0062023 9.8 F3 FN1 VTN VWF
6 external side of plasma membrane GO:0009897 9.8 CD9 F2 ITGA2 ITGA2B SELP
7 blood microparticle GO:0072562 9.73 F2 FN1 ITGA2B VTN
8 Golgi lumen GO:0005796 9.72 F2 F9 VTN
9 extracellular matrix GO:0031012 9.71 FN1 GP1BA VTN
10 platelet alpha granule lumen GO:0031093 9.65 F8 FN1 VWF
11 integrin complex GO:0008305 9.5 ITGA2 ITGA2B ITGB3
12 cell surface GO:0009986 9.5 CD9 F2R F3 GP1BA ITGA2 ITGA2B
13 alphav-beta3 integrin-vitronectin complex GO:0071062 9.46 ITGB3 VTN
14 platelet alpha granule membrane GO:0031092 8.92 CD9 ITGA2B ITGB3 SELP
15 plasma membrane GO:0005886 10.15 CD9 F2 F2R F3 F8 F9
16 extracellular region GO:0005576 10.11 F2 F2R F3 F8 F9 FN1
17 integral component of plasma membrane GO:0005887 10.04 CD9 F2R GP1BA GP9 ITGB3 SELP

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.91 CD9 F8 FN1 ITGA2B ITGB3 SELP
2 extracellular matrix organization GO:0030198 9.88 FN1 ITGA2 ITGA2B ITGB3 VTN VWF
3 platelet activation GO:0030168 9.86 CD9 F2 F2R F8 GP1BA GP9
4 cell-matrix adhesion GO:0007160 9.83 FN1 ITGA2 ITGA2B ITGB3 VTN
5 response to wounding GO:0009611 9.8 F2 F2R FN1 VWF
6 wound healing GO:0042060 9.77 FN1 ITGA2 ITGB3
7 integrin-mediated signaling pathway GO:0007229 9.76 ITGA2 ITGA2B ITGB3
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.74 F2 F2R SELP
9 platelet aggregation GO:0070527 9.73 GP1BA ITGA2B ITGB3
10 acute-phase response GO:0006953 9.72 F2 F8 FN1
11 positive regulation of collagen biosynthetic process GO:0032967 9.71 F2 F2R ITGA2
12 cell adhesion mediated by integrin GO:0033627 9.7 ITGA2 ITGB3 VTN
13 cell-substrate adhesion GO:0031589 9.69 ITGA2 ITGB3 VWF
14 positive regulation of leukocyte migration GO:0002687 9.65 ITGA2 ITGA2B SELP
15 blood coagulation GO:0007596 9.65 F2 F2R F3 F8 F9 GP1BA
16 positive regulation of JAK-STAT cascade GO:0046427 9.64 F2 F2R
17 fibrinolysis GO:0042730 9.63 F2 GP1BA
18 positive regulation of smooth muscle contraction GO:0045987 9.63 F2R ITGA2
19 regulation of blood coagulation GO:0030193 9.63 F2 F2R GP1BA
20 blood coagulation, intrinsic pathway GO:0007597 9.63 F2 F8 F9 GP1BA GP9 VWF
21 positive regulation of smooth muscle cell migration GO:0014911 9.62 ITGA2 VTN
22 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.62 ITGB3 VTN
23 mesodermal cell differentiation GO:0048333 9.61 ITGA2 ITGB3
24 positive regulation of blood coagulation GO:0030194 9.61 F2 F2R
25 positive regulation of positive chemotaxis GO:0050927 9.59 F3 ITGA2
26 thrombin-activated receptor signaling pathway GO:0070493 9.58 F2R GP1BA
27 hemostasis GO:0007599 9.23 F2 F2R F3 F8 F9 GP1BA
28 cell adhesion GO:0007155 10.02 CD9 FN1 GP1BA GP9 ITGA2 ITGA2B

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.67 F2 FN1 SELP VTN
2 extracellular matrix structural constituent GO:0005201 9.63 FN1 VTN VWF
3 extracellular matrix binding GO:0050840 9.5 ITGA2B ITGB3 VTN
4 protease binding GO:0002020 9.46 F3 FN1 ITGB3 VWF
5 thrombin-activated receptor activity GO:0015057 9.43 F2R GP1BA
6 fibrinogen binding GO:0070051 9.4 ITGA2B ITGB3
7 collagen binding GO:0005518 9.26 FN1 ITGA2 VTN VWF
8 integrin binding GO:0005178 9.1 CD9 FN1 ITGA2 ITGB3 VTN VWF
9 protein binding GO:0005515 10.13 CD9 F2 F2R F3 F8 F9

Sources for Glanzmann Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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