MCID: GLN010
MIFTS: 66

Glanzmann Thrombasthenia

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Glanzmann Thrombasthenia

MalaCards integrated aliases for Glanzmann Thrombasthenia:

Name: Glanzmann Thrombasthenia 53 12 72 49 24 55 71 36 28 13 51
Thrombasthenia of Glanzmann and Naegeli 53 12 49 71
Deficiency of Platelet Fibrinogen Receptor 12 24 71
Platelet Glycoprotein Iib-Iiia Deficiency 53 12 71
Bdplt2 53 12 71
Gt 53 49 71
Platelet Fibrinogen Receptor, Deficiency of 53 49
Deficiency of Glycoprotein Complex Iib-Iiia 12 24
Glycoprotein Iib/iiia Defect 12 24
Glanzmann's Thrombasthenia 12 14
Thrombasthenia 41 69
Glycoprotein Complex Iib-Iiia, Deficiency of 53
Bleeding Disorder, Platelet-Type, 2; Bdplt2 53
Platelet Fibrinogen Receptor Deficiency 24
Platelet Glycoprotein 2b 3a Deficiency 49
Hereditary Hemorrhagic Thrombasthenia 24
Bleeding Disorder, Platelet-Type, 2 53
Gp Iib-Iiia Complex, Deficiency of 53
Deficiency of Gp Iib-Iiia Complex 12
Platelet-Type Bleeding Disorder 2 12
Bleeding Disorder Platelet-Type 2 71
Glanzmann Thrombasthenia, Type a 69
Glanzmann Thrombasthenia Type a 49
Deficiency of Gp 2b 3a Complex 49
Diacyclothrombopathia 2b 3a 49
Glanzmann-Naegeli Disorder 24
Hereditary Thrombasthenia 24
Thrombocytasthenia 12
Glanzmann Disease 24

Characteristics:

Orphanet epidemiological data:

55
glanzmann thrombasthenia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
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:



External Ids:

OMIM 53 273800
Disease Ontology 12 DOID:2219
ICD10 32 D69.1
MeSH 41 D013915
NCIt 46 C61249
Orphanet 55 ORPHA849
UMLS via Orphanet 70 C0040015
ICD10 via Orphanet 33 D69.1
MedGen 39 C0040015
KEGG 36 H00226

Summaries for Glanzmann Thrombasthenia

NIH Rare Diseases : 49 Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 genes. Last updated: 9/13/2011

MalaCards based summary : Glanzmann Thrombasthenia, also known as thrombasthenia of glanzmann and naegeli, is related to bleeding disorder, platelet-type, 16 and leukocyte adhesion deficiency, type iii, and has symptoms including purpura, gastrointestinal hemorrhage and epistaxis. 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 Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are hematopoietic system and cardiovascular system

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

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.

Wikipedia : 72 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 135)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 33.1 ITGA2B ITGB3
2 leukocyte adhesion deficiency, type iii 31.6 F2R ITGA2B SELP
3 thrombasthenia 30.0 F2 F3 GP1BA GP9 ITGA2 ITGA2B
4 hemarthrosis 29.9 F8 F9 VWF
5 thrombocytopenia 29.6 F3 GP1BA GP9 ITGA2 ITGA2B ITGB3
6 factor xi deficiency 29.5 F2 F3 F8 F9
7 thrombosis 29.2 F2 F3 F9 GP1BA SELP VWF
8 hemophilia 29.0 F2 F3 F8 F9 VWF
9 von willebrand's disease 28.6 F2 F3 F8 F9 GP1BA SELP
10 blood platelet disease 27.1 F2 F2R F3 F8 GP1BA GP9
11 bernard-soulier syndrome 27.1 CD9 F2 F2R F8 GP1BA GP9
12 cholestasis, progressive familial intrahepatic, 1 11.5
13 gilles de la tourette syndrome 11.5
14 leukocyte adhesion deficiency, type i 11.2
15 congenital disorder of glycosylation, type iic 11.2
16 mitochondrial dna depletion syndrome 7 11.2
17 bleeding disorder, platelet-type, 17 11.2
18 cholestasis, benign recurrent intrahepatic, 1 11.1
19 sudden sensorineural hearing loss 10.5 F2 ITGB3
20 cerebral falx meningioma 10.4 F2 F3
21 intestinal impaction 10.4 F2 F3
22 cerebral sinovenous thrombosis 10.4 F2 F3
23 leech infestation 10.4 F2 F3
24 giant hemangioma 10.4 F2 F3
25 basilar artery occlusion 10.4 F2 ITGA2B
26 sagittal sinus thrombosis 10.4 F2 F3
27 blue toe syndrome 10.4 F2 F3
28 intracranial embolism 10.4 F2 F3
29 femoral neuropathy 10.4 F2 F3
30 hantavirus pulmonary syndrome 10.4 F2 F3
31 anterior cranial fossa meningioma 10.4 F2 F3
32 autosomal dominant macrothrombocytopenia 10.3 GP1BA ITGA2B ITGB3
33 marantic endocarditis 10.3 F2 F3
34 buerger disease 10.3 F2 ITGA2
35 splenic disease 10.3 F2 F3
36 heparin-induced thrombocytopenia 10.3 F3 SELP
37 pseudo-von willebrand disease 10.3 GP1BA VWF
38 purpura fulminans 10.3 F2 F3
39 active peptic ulcer disease 10.3 F2 VWF
40 arteritic anterior ischemic optic neuropathy 10.3 F2 GP1BA ITGB3
41 hepatic infarction 10.3 F2 F3
42 infective endocarditis 10.3 F2 GP1BA ITGB3
43 ischemic optic neuropathy 10.3 F2 GP1BA ITGB3
44 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.3
45 retinal vascular occlusion 10.3 F2 SELP
46 thrombocytopenia due to platelet alloimmunization 10.3 ITGA2 ITGA2B SELP
47 vitamin k deficiency hemorrhagic disease 10.2 F2 F8
48 angina pectoris 10.2 F3 VWF
49 platelet aggregation, spontaneous 10.2 SELP VWF
50 carotid artery thrombosis 10.2 F3 ITGA2B SELP

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



Diseases related to Glanzmann Thrombasthenia

Symptoms & Phenotypes for Glanzmann Thrombasthenia

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
gi hemorrhage


Clinical features from OMIM:

273800

Human phenotypes related to Glanzmann Thrombasthenia:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 purpura 31 HP:0000979
2 gastrointestinal hemorrhage 31 HP:0002239
3 epistaxis 31 HP:0000421
4 bruising susceptibility 31 HP:0000978
5 gingival bleeding 31 HP:0000225
6 intracranial hemorrhage 31 HP:0002170
7 prolonged bleeding time 31 HP:0003010
8 menorrhagia 31 HP:0000132
9 impaired platelet aggregation 31 HP:0003540
10 decreased platelet glycoprotein iib-iiia 31 HP:0001975

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 ITGA2B CD9 ITGB3 F2 SELP F2R
2 cardiovascular system MP:0005385 9.86 ITGA2B ITGB3 F2 SELP F2R F3
3 homeostasis/metabolism MP:0005376 9.73 ITGA2 ITGA2B ITGB3 F2 SELP F2R
4 immune system MP:0005387 9.32 ITGA2B CD9 ITGB3 F2 SELP F2R

Drugs & Therapeutics for Glanzmann Thrombasthenia

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

(show all 22)
# 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 21704 32326
4 Alkylating Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Antimetabolites Phase 2
7 Antimetabolites, Antineoplastic Phase 2
8 Antirheumatic Agents Phase 2,Phase 1
9 Antiviral Agents Phase 2
10 Immunosuppressive Agents Phase 2,Phase 1
11 Vidarabine Phosphate Phase 2
12
Abatacept Approved Phase 1 332348-12-6 10237
13
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
14
Mycophenolic acid Approved Phase 1 24280-93-1 446541
15 Cyclosporins Phase 1
16
alemtuzumab Approved, Investigational 216503-57-0
17
Busulfan Approved, Investigational 55-98-1 2478
18
Iron Approved 7439-89-6 23925
19 Antifibrinolytic Agents
20 Hemostatics
21 Antilymphocyte Serum
22 Dermatologic Agents

Interventional clinical trials:

(show all 12)

# 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 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 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
9 Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets Recruiting NCT01957345
10 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
11 Prospective, Non-interventional Study to Evaluate Immunogenicity of AryoSeven Enrolling by invitation NCT03372993
12 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Glanzmann Thrombasthenia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

Genetic tests related to Glanzmann Thrombasthenia:

# Genetic test Affiliating Genes
1 Glanzmann Thrombasthenia 28 ITGA2B ITGB3

Anatomical Context for Glanzmann Thrombasthenia

MalaCards organs/tissues related to Glanzmann Thrombasthenia:

38
Skin, Bone, Bone Marrow, Myeloid, Testes, Whole Blood

Publications for Glanzmann Thrombasthenia

Articles related to Glanzmann Thrombasthenia:

(show top 50) (show all 210)
# Title Authors Year
1
In silico analysis of structural modifications in and around the integrin I+IIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia. ( 29385657 )
2018
2
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
3
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. ( 29125375 )
2018
4
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms. ( 28948953 )
2017
5
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
6
Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient. ( 29185819 )
2017
7
Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. ( 28888044 )
2017
8
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
9
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
10
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
11
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. ( 29152293 )
2017
12
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2017
13
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. ( 27469266 )
2016
14
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ( 27696190 )
2016
15
Glanzmann thrombasthenia in a child manifesting after dengue infection. ( 28050106 )
2016
16
Glanzmann Thrombasthenia: A Clinicopathological Profile. ( 27539755 )
2016
17
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. ( 28096593 )
2016
18
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. ( 26764135 )
2016
19
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
20
No genetic abnormalities identified in I+2IIb and I^3: phenotype overcomes genotype in Glanzmann thrombasthenia. ( 27808476 )
2016
21
New Insights Into the Treatment of Glanzmann Thrombasthenia. ( 26968829 )
2016
22
Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes. ( 27829878 )
2016
23
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
24
I+IIbI^3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. ( 25827233 )
2015
25
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. ( 26096001 )
2015
26
The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. ( 26001793 )
2015
27
Successful Treatment of Refractory Gastrointestinal Bleeding by Systemic (Oral) Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia. ( 26167349 )
2015
28
The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. ( 26001792 )
2015
29
Expanding the Mutation Spectrum Affecting I+IIbI^3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. ( 25728920 )
2015
30
The Use of Ankaferd Blood Stopper in a Child With Glanzmann Thrombasthenia With Gingival Bleeding. ( 26207779 )
2015
31
Successful use of recombinant factor VIIa in a patient with acquired Glanzmann thrombasthenia. ( 25471665 )
2015
32
Live birth following an intracytoplasmic sperm injection in a patient with Glanzmann thrombasthenia. ( 26466915 )
2015
33
Acute Epidural Hematoma Following Acute Subdural Hematoma Evacuation in a Child With Glanzmann Thrombasthenia. ( 26421897 )
2015
34
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. ( 25806962 )
2015
35
Stem Cell Transplant in Severe Glanzmann Thrombasthenia in an Adult Patient. ( 26134714 )
2015
36
Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets. ( 24477274 )
2014
37
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. ( 24829739 )
2014
38
Unusual redo mitral valve replacement for bleeding in Glanzmann thrombasthenia. ( 24904176 )
2014
39
Use of allogeneic stem cell transplantation for moderate-severe Glanzmann thrombasthenia. ( 25548835 )
2014
40
Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry. ( 25537026 )
2014
41
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. ( 25373348 )
2014
42
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. ( 24418945 )
2014
43
A novel amino acid substitution of integrin I+IIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining I^-propeller structure. ( 22394243 )
2013
44
Glanzmann thrombasthenia: state of the art and future directions. ( 23929305 )
2013
45
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. ( 24357714 )
2013
46
Demonstration of novel gain-of-function mutations of I+IIbI^3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. ( 24498605 )
2013
47
Molecular Dynamics Analysis of a Novel I^3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting I+IIbI^3 and I+vI^3 Expression. ( 24236036 )
2013
48
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. ( 24342105 )
2013
49
High-level transgene expression in induced pluripotent stem cell-derived megakaryocytes: correction of Glanzmann thrombasthenia. ( 24335497 )
2013
50
Lessons from recurrent deep vein thrombosis in Glanzmann thrombasthenia. ( 23992524 )
2013

Variations for Glanzmann Thrombasthenia

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

71 (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 rs1052533574Glanzmann
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
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 all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB3 NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln) single nucleotide variant Pathogenic rs121918444 GRCh37 Chromosome 17, 45363730: 45363730
2 ITGB3 NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr) single nucleotide variant Pathogenic rs121918445 GRCh37 Chromosome 17, 45361880: 45361880
3 ITGB3 NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp) single nucleotide variant Pathogenic rs121918446 GRCh37 Chromosome 17, 45363729: 45363729
4 ITGB3 NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro) single nucleotide variant Pathogenic rs121918447 GRCh37 Chromosome 17, 45387535: 45387535
5 ITGB3 NM_000212.2(ITGB3): c.176T> C (p.Leu59Pro) single nucleotide variant risk factor rs5918 GRCh37 Chromosome 17, 45360730: 45360730
6 ITGB3 ITGB3, IVSiDS, G-T, EXiDEL deletion Pathogenic
7 ITGB3 NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs121918449 GRCh37 Chromosome 17, 45368393: 45368393
8 ITGB3 ITGB3, 11.2-KB DEL deletion Pathogenic
9 ITGB3 NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs121918450 GRCh37 Chromosome 17, 45384950: 45384950
10 ITGB3 NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter) single nucleotide variant Pathogenic rs121918451 GRCh37 Chromosome 17, 45377854: 45377854
11 ITGB3 ITGB3, 11-BP DEL, EX12 deletion Pathogenic
12 ITGB3 NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp) single nucleotide variant Pathogenic rs121918452 GRCh37 Chromosome 17, 45361875: 45361875
13 ITGB3 NM_000212.2(ITGB3): c.836A> T (p.Lys279Met) single nucleotide variant Pathogenic rs79775494 GRCh37 Chromosome 17, 45364494: 45364494
14 ITGB3 NM_000212.2(ITGB3): c.740G> A (p.Gly247Asp) single nucleotide variant Pathogenic rs79560904 GRCh37 Chromosome 17, 45363751: 45363751
15 ITGA2B NM_000419.4(ITGA2B): c.409-2_419delAGGCCTGCGCCCC deletion Pathogenic rs879255508 GRCh37 Chromosome 17, 42463074: 42463086
16 ITGA2B ITGA2B, 4.5-KB DEL, EX2-9 deletion Pathogenic
17 ITGA2B NM_000419.4(ITGA2B): c.1750C> T (p.Arg584Ter) single nucleotide variant Pathogenic rs137852906 GRCh37 Chromosome 17, 42457372: 42457372
18 ITGA2B NM_000419.4(ITGA2B): c.2602-3C> G single nucleotide variant Pathogenic rs763330792 GRCh37 Chromosome 17, 42453087: 42453087
19 ITGA2B NM_000419.4(ITGA2B): c.818G> A (p.Gly273Asp) single nucleotide variant Pathogenic rs137852907 GRCh37 Chromosome 17, 42461935: 42461935
20 ITGA2B NM_000419.4(ITGA2B): c.1544+1G> A single nucleotide variant Pathogenic rs879255509 GRCh37 Chromosome 17, 42457753: 42457753
21 ITGA2B NM_000419.4(ITGA2B): c.1073G> A (p.Arg358His) single nucleotide variant Pathogenic rs137852908 GRCh37 Chromosome 17, 42460998: 42460998
22 ITGA2B NM_000419.4(ITGA2B): c.1253G> A (p.Gly418Asp) single nucleotide variant Pathogenic rs137852909 GRCh37 Chromosome 17, 42458387: 42458387
23 ITGA2B NM_000419.4(ITGA2B): c.1366_1371delGTAGAC (p.Val456_Asp457del) deletion Pathogenic rs780017389 GRCh37 Chromosome 17, 42458269: 42458274
24 ITGA2B NM_000419.4(ITGA2B): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs137852910 GRCh37 Chromosome 17, 42461008: 42461008
25 ITGA2B NM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr) single nucleotide variant Pathogenic rs76811038 GRCh37 Chromosome 17, 42457148: 42457148
26 ITGA2B NM_000419.4(ITGA2B): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs137852911 GRCh37 Chromosome 17, 42462561: 42462561
27 ITGA2B NM_000419.4(ITGA2B): c.2870C> T (p.Ser957Leu) single nucleotide variant Pathogenic rs80002943 GRCh37 Chromosome 17, 42452100: 42452100
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.2333A> C (p.Gln778Pro) single nucleotide variant Likely pathogenic rs74475415 GRCh38 Chromosome 17, 44376323: 44376323
30 ITGA2B NM_000419.4(ITGA2B): c.2094+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44378360: 44378360

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 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 F2R ITGA2 ITGA2B ITGB3 VTN VWF
2
Show member pathways
12.77 ITGA2 ITGA2B ITGB3 VTN VWF
3
Show member pathways
12.75 F2 F2R ITGA2 ITGA2B ITGB3
4
Show member pathways
12.6 ITGA2 ITGA2B ITGB3 VTN
5
Show member pathways
12.51 CD9 F2 F2R F3 F8 F9
6 12.5 F2 F2R ITGA2 ITGA2B ITGB3
7
Show member pathways
12.09 F2 F2R ITGA2 ITGA2B ITGB3
8
Show member pathways
12.09 GP1BA GP9 ITGA2 ITGA2B ITGB3 VTN
9
Show member pathways
12.07 ITGA2 ITGA2B ITGB3
10 12.01 F2 F2R F3 F8 F9 VTN
11
Show member pathways
11.96 F2 F2R F3 F8 F9 GP1BA
12
Show member pathways
11.94 ITGA2B ITGB3 VWF
13
Show member pathways
11.9 ITGA2 ITGA2B ITGB3
14
Show member pathways
11.9 F2 GP1BA GP9 ITGA2B ITGB3 VWF
15 11.89 GP1BA ITGA2 ITGA2B ITGB3
16 11.89 F2R GP1BA GP9 ITGA2 ITGA2B ITGB3
17 11.87 CD9 GP1BA GP9 ITGA2 ITGA2B ITGB3
18 11.82 ITGA2 ITGA2B ITGB3
19 11.74 ITGA2 ITGA2B ITGB3 VTN
20 11.73 F3 ITGB3 VWF
21
Show member pathways
11.6 ITGA2 ITGB3 VTN
22 11.55 ITGA2 ITGA2B ITGB3 VTN
23 11.43 GP1BA SELP VTN
24 11.42 GP9 ITGA2B ITGB3
25 11.34 ITGA2 ITGB3 VTN
26 11.21 F2 F2R GP9 ITGA2 ITGA2B ITGB3
27 11.08 ITGA2B ITGB3
28 11.04 F2 F2R
29 10.96 ITGA2B ITGB3
30 10.87 GP1BA GP9 ITGA2 VWF
31 10.79 F2 F9
32 10.65 GP1BA GP9 VWF

GO Terms for Glanzmann Thrombasthenia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 CD9 F2R GP1BA GP9 ITGA2B ITGB3
2 focal adhesion GO:0005925 9.8 CD9 ITGA2 ITGA2B ITGB3
3 Golgi lumen GO:0005796 9.65 F2 F9 VTN
4 external side of plasma membrane GO:0009897 9.55 CD9 F2 ITGA2 ITGA2B SELP
5 integrin complex GO:0008305 9.5 ITGA2 ITGA2B ITGB3
6 cell surface GO:0009986 9.5 CD9 F2R F3 GP1BA ITGA2 ITGA2B
7 alphav-beta3 integrin-vitronectin complex GO:0071062 9.37 ITGB3 VTN
8 platelet alpha granule membrane GO:0031092 8.92 CD9 ITGA2B ITGB3 SELP
9 extracellular exosome GO:0070062 10.06 CD9 F2 F3 F9 GP1BA ITGA2B
10 plasma membrane GO:0005886 10.03 CD9 F2 F2R F3 F8 F9
11 extracellular space GO:0005615 10 CD9 F2 F3 F8 F9 SELP

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.97 CD9 GP1BA GP9 ITGA2 ITGA2B ITGB3
2 platelet activation GO:0030168 9.86 CD9 F2 F2R F8 GP1BA GP9
3 platelet degranulation GO:0002576 9.85 CD9 F8 ITGA2B ITGB3 SELP VWF
4 extracellular matrix organization GO:0030198 9.83 ITGA2 ITGA2B ITGB3 VTN VWF
5 ER to Golgi vesicle-mediated transport GO:0006888 9.82 F2 F8 F9
6 cell-matrix adhesion GO:0007160 9.8 ITGA2 ITGA2B ITGB3 VTN
7 integrin-mediated signaling pathway GO:0007229 9.77 ITGA2 ITGA2B ITGB3
8 response to wounding GO:0009611 9.74 F2 F2R VWF
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 F2 F2R SELP
10 positive regulation of collagen biosynthetic process GO:0032967 9.7 F2 F2R ITGA2
11 regulation of blood coagulation GO:0030193 9.69 F2 F2R GP1BA
12 cell-substrate adhesion GO:0031589 9.65 ITGA2 ITGB3 VWF
13 blood coagulation GO:0007596 9.65 F2 F2R F3 F8 F9 GP1BA
14 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.64 F2 F2R
15 positive regulation of smooth muscle contraction GO:0045987 9.64 F2R ITGA2
16 positive regulation of smooth muscle cell migration GO:0014911 9.63 ITGA2 VTN
17 fibrinolysis GO:0042730 9.63 F2 GP1BA
18 cell adhesion mediated by integrin GO:0033627 9.63 ITGA2 ITGB3 VTN
19 blood coagulation, intrinsic pathway GO:0007597 9.63 F2 F8 F9 GP1BA GP9 VWF
20 signal peptide processing GO:0006465 9.62 F2 F9
21 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.62 ITGB3 VTN
22 positive regulation of blood coagulation GO:0030194 9.61 F2 F2R
23 mesodermal cell differentiation GO:0048333 9.61 ITGA2 ITGB3
24 positive regulation of positive chemotaxis GO:0050927 9.6 F3 ITGA2
25 peptidyl-glutamic acid carboxylation GO:0017187 9.58 F2 F9
26 thrombin-activated receptor signaling pathway GO:0070493 9.58 F2R GP1BA
27 positive regulation of leukocyte migration GO:0002687 9.58 ITGA2 ITGA2B SELP
28 positive regulation of STAT protein import into nucleus GO:2000366 9.55 F2 F2R
29 blood coagulation, extrinsic pathway GO:0007598 9.54 F3 F9
30 hemostasis GO:0007599 9.23 F2 F2R F3 F8 F9 GP1BA

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.58 F2 SELP VTN
2 protease binding GO:0002020 9.54 F3 ITGB3 VWF
3 collagen binding GO:0005518 9.5 ITGA2 VTN VWF
4 lipopolysaccharide binding GO:0001530 9.43 F2 SELP
5 thrombin-activated receptor activity GO:0015057 9.26 F2R GP1BA
6 extracellular matrix binding GO:0050840 9.13 ITGA2B ITGB3 VTN
7 integrin binding GO:0005178 9.02 CD9 ITGA2 ITGB3 VTN VWF
8 protein binding GO:0005515 10 CD9 F2 F2R F3 F8 F9

Sources for Glanzmann Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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