MCID: GLN010
MIFTS: 65

Glanzmann Thrombasthenia

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Glanzmann Thrombasthenia

MalaCards integrated aliases for Glanzmann Thrombasthenia:

Name: Glanzmann Thrombasthenia 57 12 76 53 25 59 75 37 29 13 55 6
Thrombasthenia of Glanzmann and Naegeli 57 12 53 75
Deficiency of Platelet Fibrinogen Receptor 12 25 75
Platelet Glycoprotein Iib-Iiia Deficiency 57 12 75
Glanzmann's Thrombasthenia 12 15 40
Bdplt2 57 12 75
Gt 57 53 75
Platelet Fibrinogen Receptor, Deficiency of 57 53
Deficiency of Glycoprotein Complex Iib-Iiia 12 25
Glycoprotein Iib/iiia Defect 12 25
Thrombasthenia 44 73
Glycoprotein Complex Iib-Iiia, Deficiency of 57
Bleeding Disorder, Platelet-Type, 2; Bdplt2 57
Platelet Fibrinogen Receptor Deficiency 25
Platelet Glycoprotein 2b 3a Deficiency 53
Hereditary Hemorrhagic Thrombasthenia 25
Bleeding Disorder, Platelet-Type, 2 57
Gp Iib-Iiia Complex, Deficiency of 57
Deficiency of Gp Iib-Iiia Complex 12
Platelet-Type Bleeding Disorder 2 12
Bleeding Disorder Platelet-Type 2 75
Glanzmann Thrombasthenia, Type a 73
Glanzmann Thrombasthenia Type a 53
Deficiency of Gp 2b 3a Complex 53
Diacyclothrombopathia 2b 3a 53
Glanzmann-Naegeli Disorder 25
Hereditary Thrombasthenia 25
Thrombocytasthenia 12
Glanzmann Disease 25

Characteristics:

Orphanet epidemiological data:

59
glanzmann thrombasthenia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
glanzmann thrombasthenia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 273800
Disease Ontology 12 DOID:2219
ICD10 33 D69.1
MeSH 44 D013915
NCIt 50 C61249
Orphanet 59 ORPHA849
ICD10 via Orphanet 34 D69.1
UMLS via Orphanet 74 C0040015
MedGen 42 C0040015
KEGG 37 H00226

Summaries for Glanzmann Thrombasthenia

NIH Rare Diseases : 53 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 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, bone and bone marrow, and related phenotypes are menorrhagia and gingival bleeding

OMIM : 57 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 : 75 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 : 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.

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 : 76 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 33.5 ITGA2B ITGB3
2 leukocyte adhesion deficiency, type iii 31.4 F2R ITGA2B SELP
3 factor xi deficiency 30.1 F2 F3 F9
4 hemarthrosis 29.8 F8 F9 VWF
5 thrombocytopenia 29.4 F3 GP1BA GP9 ITGA2 ITGA2B ITGB3
6 thrombasthenia 29.1 F2 F3 GP1BA GP9 ITGA2 ITGA2B
7 thrombosis 28.6 F2 F3 F9 GP1BA SELP VWF
8 hemophilia 28.5 F2 F3 F8 F9 VWF
9 von willebrand's disease 27.6 F2 F3 F8 F9 GP1BA SELP
10 blood platelet disease 25.3 F2 F2R F3 F8 GP1BA GP9
11 bernard-soulier syndrome 25.2 CD9 F2 F2R F8 GP1BA GP9
12 cholestasis, progressive familial intrahepatic, 1 11.5
13 gilles de la tourette syndrome 11.5
14 bleeding disorder, platelet-type, 17 11.3
15 leukocyte adhesion deficiency, type i 11.2
16 congenital disorder of glycosylation, type iic 11.2
17 sudden sensorineural hearing loss 10.8 F2 ITGB3
18 cerebral falx meningioma 10.7 F2 F3
19 intestinal impaction 10.7 F2 F3
20 cerebral sinovenous thrombosis 10.7 F2 F3
21 leech infestation 10.6 F2 F3
22 giant hemangioma 10.6 F2 F3
23 sagittal sinus thrombosis 10.6 F2 F3
24 blue toe syndrome 10.6 F2 F3
25 basilar artery occlusion 10.6 F2 ITGA2B
26 intracranial embolism 10.6 F2 F3
27 femoral neuropathy 10.6 F2 F3
28 hantavirus pulmonary syndrome 10.6 F2 F3
29 anterior cranial fossa meningioma 10.6 F2 F3
30 autosomal dominant macrothrombocytopenia 10.6 GP1BA ITGA2B ITGB3
31 splenic disease 10.6 F2 F3
32 buerger disease 10.5 F2 ITGA2
33 heparin-induced thrombocytopenia 10.5 F3 SELP
34 pseudo-von willebrand disease 10.5 GP1BA VWF
35 marantic endocarditis 10.5 F2 F3
36 purpura fulminans 10.5 F2 F3
37 active peptic ulcer disease 10.5 F2 VWF
38 type i 10.5
39 arteritic anterior ischemic optic neuropathy 10.5 F2 GP1BA ITGB3
40 infective endocarditis 10.5 F2 GP1BA ITGB3
41 ischemic optic neuropathy 10.4 F2 GP1BA ITGB3
42 hemorrhagic fever 10.4 F2 F3 ITGB3
43 hepatic infarction 10.4 F2 F3
44 thrombocytopenia due to platelet alloimmunization 10.4 ITGA2 ITGA2B SELP
45 vitamin k deficiency hemorrhagic disease 10.4 F2 F8
46 platelet aggregation, spontaneous 10.4 SELP VWF
47 angina pectoris 10.3 F3 VWF
48 carotid artery thrombosis 10.3 F3 ITGA2B SELP
49 retinal vascular occlusion 10.3 F2 SELP
50 retinal artery occlusion 10.3 F2 F8

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:

57
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

Human phenotypes related to Glanzmann Thrombasthenia:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 menorrhagia 32 HP:0000132
2 gingival bleeding 32 HP:0000225
3 epistaxis 32 HP:0000421
4 bruising susceptibility 32 HP:0000978
5 purpura 32 HP:0000979
6 decreased platelet glycoprotein iib-iiia 32 HP:0001975
7 intracranial hemorrhage 32 HP:0002170
8 gastrointestinal hemorrhage 32 HP:0002239
9 prolonged bleeding time 32 HP:0003010
10 impaired platelet aggregation 32 HP:0003540

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 CD9 F2 F2R F3 F8 F9
2 cardiovascular system MP:0005385 9.86 F2 F2R F3 F9 ITGA2B ITGB3
3 homeostasis/metabolism MP:0005376 9.73 SELP VTN VWF F2 F2R F3
4 immune system MP:0005387 9.32 CD9 F2 F2R F3 F8 F9

Drugs & Therapeutics for Glanzmann Thrombasthenia

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
4 Alkylating Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Antimetabolites Phase 2
7 Antimetabolites, Antineoplastic Phase 2
8 Antineoplastic Agents, Alkylating Phase 2
9 Antirheumatic Agents Phase 2,Phase 1
10 Antiviral Agents Phase 2
11 Immunosuppressive Agents Phase 2,Phase 1
12 Vidarabine Phosphate Phase 2
13
Abatacept Approved Phase 1 332348-12-6 10237
14
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 1 24280-93-1 446541
16 Cyclosporins Phase 1
17
alemtuzumab Approved, Investigational Not Applicable 216503-57-0
18
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
19
Iron Approved Not Applicable 7439-89-6 23925
20 Antifibrinolytic Agents
21 Hemostatics
22 Antilymphocyte Serum Not Applicable
23 Dermatologic Agents Not Applicable

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 Not Applicable
10 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable 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 Not Applicable Alefacept

Search NIH Clinical Center for Glanzmann Thrombasthenia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Skin, Bone, Bone Marrow, Myeloid, Whole Blood, Testes

Publications for Glanzmann Thrombasthenia

Articles related to Glanzmann Thrombasthenia:

(show top 50) (show all 217)
# Title Authors Year
1
Acquired Antibodies to I+IIbI^3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond. ( 29884513 )
2018
2
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
3
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
4
Anti-I+<sub>IIb</sub> I^<sub>3</sub> immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations. ( 29611179 )
2018
5
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. ( 29125375 )
2018
6
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
7
Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia. ( 29945125 )
2018
8
Perioperative management of a patient with Glanzmann thrombasthenia undergoing a coronary artery bypass graft surgery: a case report. ( 29474205 )
2018
9
Correction of coagulopathy in thrombocytopenia and Glanzmann thrombasthenia models by fibrinogen and factor XIII as assessed by thromboelastometry. ( 29805054 )
2018
10
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. ( 29152293 )
2017
11
Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. ( 28888044 )
2017
12
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
13
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
14
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
15
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms. ( 28948953 )
2017
16
Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient. ( 29185819 )
2017
17
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2017
18
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
19
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. ( 28096593 )
2016
20
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
21
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. ( 26764135 )
2016
22
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. ( 27469266 )
2016
23
Glanzmann Thrombasthenia: A Clinicopathological Profile. ( 27539755 )
2016
24
Glanzmann thrombasthenia in a child manifesting after dengue infection. ( 28050106 )
2016
25
New Insights Into the Treatment of Glanzmann Thrombasthenia. ( 26968829 )
2016
26
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ( 27696190 )
2016
27
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
28
No genetic abnormalities identified in I+2IIb and I^3: phenotype overcomes genotype in Glanzmann thrombasthenia. ( 27808476 )
2016
29
Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes. ( 27829878 )
2016
30
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
31
The Use of Ankaferd Blood Stopper in a Child With Glanzmann Thrombasthenia With Gingival Bleeding. ( 26207779 )
2015
32
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. ( 26096001 )
2015
33
Live birth following an intracytoplasmic sperm injection in a patient with Glanzmann thrombasthenia. ( 26466915 )
2015
34
Successful use of recombinant factor VIIa in a patient with acquired Glanzmann thrombasthenia. ( 25471665 )
2015
35
I+IIbI^3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. ( 25827233 )
2015
36
Successful Treatment of Refractory Gastrointestinal Bleeding by Systemic (Oral) Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia. ( 26167349 )
2015
37
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. ( 25806962 )
2015
38
Stem Cell Transplant in Severe Glanzmann Thrombasthenia in an Adult Patient. ( 26134714 )
2015
39
The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. ( 26001793 )
2015
40
Acute Epidural Hematoma Following Acute Subdural Hematoma Evacuation in a Child With Glanzmann Thrombasthenia. ( 26421897 )
2015
41
The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. ( 26001792 )
2015
42
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. ( 24829739 )
2014
43
Use of allogeneic stem cell transplantation for moderate-severe Glanzmann thrombasthenia. ( 25548835 )
2014
44
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. ( 25373348 )
2014
45
Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets. ( 24477274 )
2014
46
Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry. ( 25537026 )
2014
47
Unusual redo mitral valve replacement for bleeding in Glanzmann thrombasthenia. ( 24904176 )
2014
48
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. ( 24418945 )
2014
49
Demonstration of novel gain-of-function mutations of I+IIbI^3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. ( 24498605 )
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:

75 (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 top 50) (show all 246)
# 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.1750C> T (p.Arg584Ter) single nucleotide variant Pathogenic rs137852906 GRCh37 Chromosome 17, 42457372: 42457372
5 ITGA2B NM_000419.4(ITGA2B): c.1750C> T (p.Arg584Ter) single nucleotide variant Pathogenic rs137852906 GRCh38 Chromosome 17, 44380004: 44380004
6 ITGA2B NM_000419.4(ITGA2B): c.2602-3C> G single nucleotide variant Pathogenic rs763330792 GRCh37 Chromosome 17, 42453087: 42453087
7 ITGA2B NM_000419.4(ITGA2B): c.2602-3C> G single nucleotide variant Pathogenic rs763330792 GRCh38 Chromosome 17, 44375719: 44375719
8 ITGA2B NM_000419.4(ITGA2B): c.818G> A (p.Gly273Asp) single nucleotide variant Pathogenic rs137852907 GRCh37 Chromosome 17, 42461935: 42461935
9 ITGA2B NM_000419.4(ITGA2B): c.818G> A (p.Gly273Asp) single nucleotide variant Pathogenic rs137852907 GRCh38 Chromosome 17, 44384567: 44384567
10 ITGA2B NM_000419.4(ITGA2B): c.1544+1G> A single nucleotide variant Pathogenic rs879255509 GRCh37 Chromosome 17, 42457753: 42457753
11 ITGA2B NM_000419.4(ITGA2B): c.1544+1G> A single nucleotide variant Pathogenic rs879255509 GRCh38 Chromosome 17, 44380385: 44380385
12 ITGA2B NM_000419.4(ITGA2B): c.1073G> A (p.Arg358His) single nucleotide variant Pathogenic rs137852908 GRCh37 Chromosome 17, 42460998: 42460998
13 ITGA2B NM_000419.4(ITGA2B): c.1073G> A (p.Arg358His) single nucleotide variant Pathogenic rs137852908 GRCh38 Chromosome 17, 44383630: 44383630
14 ITGA2B NM_000419.4(ITGA2B): c.1253G> A (p.Gly418Asp) single nucleotide variant Pathogenic rs137852909 GRCh37 Chromosome 17, 42458387: 42458387
15 ITGA2B NM_000419.4(ITGA2B): c.1253G> A (p.Gly418Asp) single nucleotide variant Pathogenic rs137852909 GRCh38 Chromosome 17, 44381019: 44381019
16 ITGA2B NM_000419.4(ITGA2B): c.1366_1371delGTAGAC (p.Val456_Asp457del) deletion Pathogenic rs780017389 GRCh37 Chromosome 17, 42458269: 42458274
17 ITGA2B NM_000419.4(ITGA2B): c.1366_1371delGTAGAC (p.Val456_Asp457del) deletion Pathogenic rs780017389 GRCh38 Chromosome 17, 44380901: 44380906
18 ITGA2B NM_000419.4(ITGA2B): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs137852910 GRCh37 Chromosome 17, 42461008: 42461008
19 ITGA2B NM_000419.4(ITGA2B): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs137852910 GRCh38 Chromosome 17, 44383640: 44383640
20 ITGA2B NM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr) single nucleotide variant Pathogenic rs76811038 GRCh37 Chromosome 17, 42457148: 42457148
21 ITGA2B NM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr) single nucleotide variant Pathogenic rs76811038 GRCh38 Chromosome 17, 44379780: 44379780
22 ITGA2B NM_000419.4(ITGA2B): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs137852911 GRCh37 Chromosome 17, 42462561: 42462561
23 ITGA2B NM_000419.4(ITGA2B): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs137852911 GRCh38 Chromosome 17, 44385193: 44385193
24 ITGA2B NM_000419.4(ITGA2B): c.2870C> T (p.Ser957Leu) single nucleotide variant Pathogenic rs80002943 GRCh37 Chromosome 17, 42452100: 42452100
25 ITGA2B NM_000419.4(ITGA2B): c.2870C> T (p.Ser957Leu) single nucleotide variant Pathogenic rs80002943 GRCh38 Chromosome 17, 44374732: 44374732
26 ITGA2B NM_000419.4(ITGA2B): c.1878G> C (p.Gln626His) single nucleotide variant Pathogenic rs80277041 GRCh37 Chromosome 17, 42457057: 42457057
27 ITGA2B NM_000419.4(ITGA2B): c.1878G> C (p.Gln626His) single nucleotide variant Pathogenic rs80277041 GRCh38 Chromosome 17, 44379689: 44379689
28 ITGB3 NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln) single nucleotide variant Pathogenic rs121918444 GRCh37 Chromosome 17, 45363730: 45363730
29 ITGB3 NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln) single nucleotide variant Pathogenic rs121918444 GRCh38 Chromosome 17, 47286364: 47286364
30 ITGB3 NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr) single nucleotide variant Pathogenic rs121918445 GRCh37 Chromosome 17, 45361880: 45361880
31 ITGB3 NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr) single nucleotide variant Pathogenic rs121918445 GRCh38 Chromosome 17, 47284514: 47284514
32 ITGB3 NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp) single nucleotide variant Pathogenic rs121918446 GRCh37 Chromosome 17, 45363729: 45363729
33 ITGB3 NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp) single nucleotide variant Pathogenic rs121918446 GRCh38 Chromosome 17, 47286363: 47286363
34 ITGB3 NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro) single nucleotide variant Pathogenic rs121918447 GRCh37 Chromosome 17, 45387535: 45387535
35 ITGB3 NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro) single nucleotide variant Pathogenic rs121918447 GRCh38 Chromosome 17, 47310169: 47310169
36 ITGB3 ITGB3, IVSiDS, G-T, EXiDEL deletion Pathogenic
37 ITGB3 NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs121918449 GRCh37 Chromosome 17, 45368393: 45368393
38 ITGB3 NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs121918449 GRCh38 Chromosome 17, 47291027: 47291027
39 ITGB3 ITGB3, 11.2-KB DEL deletion Pathogenic
40 ITGB3 NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs121918450 GRCh37 Chromosome 17, 45384950: 45384950
41 ITGB3 NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs121918450 GRCh38 Chromosome 17, 47307584: 47307584
42 ITGB3 NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter) single nucleotide variant Pathogenic rs121918451 GRCh37 Chromosome 17, 45377854: 45377854
43 ITGB3 NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter) single nucleotide variant Pathogenic rs121918451 GRCh38 Chromosome 17, 47300488: 47300488
44 ITGB3 ITGB3, 11-BP DEL, EX12 deletion Pathogenic
45 ITGB3 NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp) single nucleotide variant Pathogenic rs121918452 GRCh37 Chromosome 17, 45361875: 45361875
46 ITGB3 NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp) single nucleotide variant Pathogenic rs121918452 GRCh38 Chromosome 17, 47284509: 47284509
47 ITGB3 NM_000212.2(ITGB3): c.836A> T (p.Lys279Met) single nucleotide variant Pathogenic rs79775494 GRCh37 Chromosome 17, 45364494: 45364494
48 ITGB3 NM_000212.2(ITGB3): c.836A> T (p.Lys279Met) single nucleotide variant Pathogenic rs79775494 GRCh38 Chromosome 17, 47287128: 47287128
49 ITGB3 NM_000212.2(ITGB3): c.740G> A (p.Gly247Asp) single nucleotide variant Pathogenic rs79560904 GRCh37 Chromosome 17, 45363751: 45363751
50 ITGB3 NM_000212.2(ITGB3): c.740G> A (p.Gly247Asp) single nucleotide variant Pathogenic rs79560904 GRCh38 Chromosome 17, 47286385: 47286385

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:

37
# 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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 F2 F2R ITGA2 ITGA2B ITGB3 VTN
2
Show member pathways
12.84 F2R ITGA2 ITGA2B ITGB3 VTN VWF
3
Show member pathways
12.78 F2 F2R ITGA2 ITGA2B ITGB3
4
Show member pathways
12.76 ITGA2 ITGA2B ITGB3 VTN VWF
5
Show member pathways
12.6 ITGA2 ITGA2B ITGB3 VTN
6
Show member pathways
12.51 CD9 F2 F2R F3 F8 F9
7 12.5 F2 F2R ITGA2 ITGA2B ITGB3
8
Show member pathways
12.09 F2 ITGB3 SELP
9
Show member pathways
12.09 GP1BA GP9 ITGA2 ITGA2B ITGB3 VTN
10
Show member pathways
12.07 ITGA2 ITGA2B ITGB3
11 12.01 F2 F2R F3 F8 F9 VTN
12
Show member pathways
11.96 F2 F2R F3 F8 F9 GP1BA
13
Show member pathways
11.93 ITGA2B ITGB3 VWF
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
Show member pathways
11.88 ITGA2 ITGA2B ITGB3
18 11.87 CD9 GP1BA GP9 ITGA2 ITGA2B ITGB3
19 11.74 ITGA2 ITGA2B ITGB3 VTN
20 11.72 F3 ITGB3 VWF
21
Show member pathways
11.59 ITGA2 ITGB3 VTN
22 11.55 ITGA2 ITGA2B ITGB3 VTN
23 11.49 ITGA2 ITGA2B ITGB3
24 11.43 GP1BA SELP VTN
25 11.42 GP9 ITGA2B ITGB3
26 11.34 ITGA2 ITGB3 VTN
27 11.21 F2 F2R GP9 ITGA2 ITGA2B ITGB3
28 11.08 ITGA2B ITGB3
29 11.04 F2 F2R
30 10.95 ITGA2B ITGB3
31 10.87 GP1BA GP9 ITGA2 VWF
32 10.78 F2 F9
33 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 extracellular space GO:0005615 9.98 CD9 F2 F3 F8 F9 SELP
2 integral component of plasma membrane GO:0005887 9.97 CD9 F2R GP1BA GP9 ITGB3 SELP
3 plasma membrane GO:0005886 9.93 CD9 F2 F2R F3 F8 F9
4 focal adhesion GO:0005925 9.78 CD9 ITGA2 ITGA2B ITGB3
5 external side of plasma membrane GO:0009897 9.65 CD9 F2 ITGA2 ITGA2B SELP
6 Golgi lumen GO:0005796 9.63 F2 F9 VTN
7 integrin complex GO:0008305 9.5 ITGA2 ITGA2B ITGB3
8 cell surface GO:0009986 9.5 CD9 F2R F3 GP1BA ITGA2 ITGA2B
9 alphav-beta3 integrin-vitronectin complex GO:0071062 9.37 ITGB3 VTN
10 platelet alpha granule membrane GO:0031092 8.92 CD9 ITGA2B ITGB3 SELP
11 extracellular exosome GO:0070062 10.06 CD9 F2 F3 F9 GP1BA ITGA2B

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 extracellular matrix organization GO:0030198 9.85 ITGA2 ITGA2B ITGB3 VTN VWF
4 platelet degranulation GO:0002576 9.85 CD9 F8 ITGA2B ITGB3 SELP VWF
5 cell-matrix adhesion GO:0007160 9.81 ITGA2 ITGA2B ITGB3 VTN
6 integrin-mediated signaling pathway GO:0007229 9.77 ITGA2 ITGA2B ITGB3
7 response to wounding GO:0009611 9.74 F2 F2R VWF
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 F2 F2R SELP
9 platelet aggregation GO:0070527 9.71 GP1BA ITGA2B ITGB3
10 positive regulation of collagen biosynthetic process GO:0032967 9.7 F2 F2R ITGA2
11 cell-substrate adhesion GO:0031589 9.67 ITGA2 ITGB3 VWF
12 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.65 F2 F2R
13 cell adhesion mediated by integrin GO:0033627 9.65 ITGA2 ITGB3 VTN
14 blood coagulation GO:0007596 9.65 F2 F2R F3 F8 F9 GP1BA
15 positive regulation of JAK-STAT cascade GO:0046427 9.64 F2 F2R
16 signal peptide processing GO:0006465 9.64 F2 F9
17 positive regulation of smooth muscle contraction GO:0045987 9.63 F2R ITGA2
18 fibrinolysis GO:0042730 9.63 F2 GP1BA
19 blood coagulation, intrinsic pathway GO:0007597 9.63 F2 F8 F9 GP1BA GP9 VWF
20 positive regulation of smooth muscle cell migration GO:0014911 9.62 ITGA2 VTN
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 leukocyte migration GO:0002687 9.61 ITGA2 ITGA2B SELP
25 positive regulation of positive chemotaxis GO:0050927 9.6 F3 ITGA2
26 peptidyl-glutamic acid carboxylation GO:0017187 9.58 F2 F9
27 thrombin-activated receptor signaling pathway GO:0070493 9.58 F2R GP1BA
28 regulation of blood coagulation GO:0030193 9.58 F2 F2R GP1BA
29 blood coagulation, extrinsic pathway GO:0007598 9.55 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 thrombin-activated receptor activity GO:0015057 9.16 F2R GP1BA
5 extracellular matrix binding GO:0050840 9.13 ITGA2B ITGB3 VTN
6 integrin binding GO:0005178 9.02 CD9 ITGA2 ITGB3 VTN VWF
7 protein binding GO:0005515 10.1 CD9 F2 F2R F3 F8 F9

Sources for Glanzmann Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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