MCID: GLN010
MIFTS: 64

Glanzmann Thrombasthenia

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Glanzmann Thrombasthenia

MalaCards integrated aliases for Glanzmann Thrombasthenia:

Name: Glanzmann Thrombasthenia 54 12 50 25 56 71 29 13 52
Deficiency of Platelet Fibrinogen Receptor 12 25 71
Thrombasthenia of Glanzmann and Naegeli 12 50 71
Deficiency of Glycoprotein Complex Iib-Iiia 12 25
Platelet Glycoprotein Iib-Iiia Deficiency 12 71
Glycoprotein Iib/iiia Defect 12 25
Glanzmann's Thrombasthenia 12 14
Thrombasthenia 42 69
Bdplt2 12 71
Gt 50 71
Platelet Fibrinogen Receptor, Deficiency of 50
Platelet Fibrinogen Receptor Deficiency 25
Platelet Glycoprotein 2b 3a Deficiency 50
Hereditary Hemorrhagic Thrombasthenia 25
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 50
Deficiency of Gp 2b 3a Complex 50
Diacyclothrombopathia 2b 3a 50
Glanzmann-Naegeli Disorder 25
Hereditary Thrombasthenia 25
Thrombocytasthenia 12
Glanzmann Disease 25

Characteristics:

Orphanet epidemiological data:

56
glanzmann thrombasthenia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
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 54 273800
Disease Ontology 12 DOID:2219
ICD10 33 D69.1
MeSH 42 D013915
NCIt 47 C61249
Orphanet 56 ORPHA849
UMLS via Orphanet 70 C0040015
ICD10 via Orphanet 34 D69.1
MedGen 40 C0040015
UMLS 69 C0040015

Summaries for Glanzmann Thrombasthenia

NIH Rare Diseases : 50 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 deficiency of platelet fibrinogen receptor, is related to bleeding disorder, platelet-type, 16, autosomal dominant and low gamma-gt familial intrahepatic cholestasis, and has symptoms including epistaxis, purpura and impaired platelet aggregation. An important gene associated with Glanzmann Thrombasthenia is ITGB3 (Integrin Subunit Beta 3), and among its related pathways/superpathways are Integrin Pathway and Focal Adhesion. The drugs Abatacept and Mycophenolate mofetil 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

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 : 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.

OMIM : 54
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.

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 137)
id Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16, autosomal dominant 25.2 CD9 F2 F2R F3 F8 F9
2 low gamma-gt familial intrahepatic cholestasis 12.0
3 cholestasis, progressive familial intrahepatic 1 11.4
4 thrombasthenia of glanzmann and naegeli, itga2b-related 11.3
5 thrombasthenia of glanzmann and naegeli, itgb3-related 11.3
6 gilles de la tourette syndrome 11.3
7 leukocyte adhesion deficiency, type iii 11.1
8 leukocyte adhesion deficiency 11.1
9 mitochondrial dna depletion syndrome 7 11.1
10 thrombasthenia 11.1
11 bleeding disorder, platelet-type, 17 11.0
12 atrial fibrillation, familial, 18 10.8 ITGA2B ITGB3
13 cholestasis, benign recurrent intrahepatic 10.8
14 kleefstra syndrome 10.8
15 superior limbic keratoconjunctivitis 10.7 F2 ITGB3
16 hyperthyroidism 10.6 F2 F3
17 pyridoxine deficiency anemia 10.6 F2 F3
18 46,xy ovotesticular disorder of sex development 10.6 F2 F3
19 myiasis 10.6 F2 F3
20 testicular gonadoblastoma 10.6 F2 F3
21 rectum neuroendocrine neoplasm 10.6 F2 F3
22 coccidioidomycosis 10.6 F2 ITGA2B
23 midline cystocele 10.6 F2 F3
24 brain stem glioma 10.6 F2 F3
25 sporotrichosis 10.6 F2 F3
26 central nervous system germ cell tumor 10.5 F2 F3
27 third branchial cleft anomaly 10.5 GP1BA ITGA2B ITGB3
28 chronic inflammatory demyelinating polyneuritis 10.5 F2 F3
29 hereditary amyloidosis 10.5 F3 SELP
30 lymphatic system cancer 10.5 F2 F3
31 alpha-2-plasmin inhibitor deficiency 10.5 GP1BA VWF
32 elejalde disease 10.5 F2 ITGA2
33 lethal congenital contracture syndrome 10.5 F2 F3
34 brain ependymoma 10.5 F2 VWF
35 hepatocellular adenoma 10.5 F2 GP1BA ITGB3
36 joint disorders 10.4 F2 GP1BA ITGB3
37 c1 inhibitor deficiency 10.4 F2 GP1BA ITGB3
38 spinal cord lipoma 10.4 F2 F3
39 cryptosporidiosis 10.4 F2 SELP
40 social phobia 10.4 F2 F8
41 chronic diarrhea due to guanylate cyclase 2c overactivity 10.4 F3 VWF
42 optic nerve neoplasm 10.3 F3 ITGA2B SELP
43 parasitic helminthiasis infectious disease 10.3 F3 ITGA2B SELP
44 ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia 10.3 F8 VWF
45 uchl1-related parkinson disease susceptibility 10.3 F8 VWF
46 rectal disease 10.3 CD9 F2
47 rheumatoid lung disease 10.3 F2 F8
48 mild hemophilia b 10.3 F8 VWF
49 floppy infant syndrome 10.3 F8 VWF
50 thyroid crisis 10.3 CD9 F2

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:

54

Head And Neck- Nose:
epistaxis

Genitourinary- Internal Genitalia Female:
menorrhagia

Head And Neck- Mouth:
gingival bleeding

Hematology:
normal platelet count
glanzmann thrombasthenia
abnormal platelet aggregation

Skin Nails & Hair- Skin:
purpura
easy bruisability

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

Neurologic- Central Nervous System:
intracranial hemorrhage

Abdomen- Gastroin testinal:
gi hemorrhage


Clinical features from OMIM:

273800

Human phenotypes related to Glanzmann Thrombasthenia:

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

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 VWF CD9 F2 F2R F3 F8
2 cardiovascular system MP:0005385 9.86 ITGB3 SELP VWF F2 F2R F3
3 homeostasis/metabolism MP:0005376 9.73 F2 F2R F3 F8 F9 GP1BA
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 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 1 332348-12-6 10237
2
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
3
Mycophenolic acid Approved Phase 1 24280-93-1 446541
4 Antirheumatic Agents Phase 1
5 Cyclosporins Phase 1
6 Immunosuppressive Agents Phase 1
7
alemtuzumab Approved, Investigational 216503-57-0
8
Busulfan Approved, Investigational 55-98-1 2478
9
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
10
Fludarabine Approved 21679-14-1, 75607-67-9 30751
11
Iron Approved 7439-89-6 23925
12 Antifibrinolytic Agents
13 Hemostatics
14 Antilymphocyte Serum
15 Dermatologic Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 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
2 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
3 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
4 Observational Registry of the Treatment of Glanzmann's Thrombasthenia Completed NCT01476423 activated recombinant human factor VII
5 A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
6 Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in Germany Completed NCT00697320 eptacog alfa (activated)
7 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
8 Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets Recruiting NCT01957345
9 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
10 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Glanzmann Thrombasthenia

Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

Genetic tests related to Glanzmann Thrombasthenia:

id Genetic test Affiliating Genes
1 Glanzmann Thrombasthenia 29

Anatomical Context for Glanzmann Thrombasthenia

MalaCards organs/tissues related to Glanzmann Thrombasthenia:

39
Skin, Bone, Bone Marrow, Testes, Whole Blood, Myeloid

Publications for Glanzmann Thrombasthenia

Articles related to Glanzmann Thrombasthenia:

(show top 50) (show all 205)
id Title Authors Year
1
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
2
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
3
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
4
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
5
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2017
6
Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. ( 28888044 )
2017
7
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms. ( 28948953 )
2017
8
Glanzmann Thrombasthenia: A Clinicopathological Profile. ( 27539755 )
2016
9
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ( 27696190 )
2016
10
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. ( 28096593 )
2016
11
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
12
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. ( 26764135 )
2016
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
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
15
Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes. ( 27829878 )
2016
16
Glanzmann thrombasthenia in a child manifesting after dengue infection. ( 28050106 )
2016
17
New Insights Into the Treatment of Glanzmann Thrombasthenia. ( 26968829 )
2016
18
No genetic abnormalities identified in I+2IIb and I^3: phenotype overcomes genotype in Glanzmann thrombasthenia. ( 27808476 )
2016
19
Stem Cell Transplant in Severe Glanzmann Thrombasthenia in an Adult Patient. ( 26134714 )
2015
20
Acute Epidural Hematoma Following Acute Subdural Hematoma Evacuation in a Child With Glanzmann Thrombasthenia. ( 26421897 )
2015
21
The Use of Ankaferd Blood Stopper in a Child With Glanzmann Thrombasthenia With Gingival Bleeding. ( 26207779 )
2015
22
The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. ( 26001792 )
2015
23
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. ( 25806962 )
2015
24
Successful Treatment of Refractory Gastrointestinal Bleeding by Systemic (Oral) Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia. ( 26167349 )
2015
25
Successful use of recombinant factor VIIa in a patient with acquired Glanzmann thrombasthenia. ( 25471665 )
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
Live birth following an intracytoplasmic sperm injection in a patient with Glanzmann thrombasthenia. ( 26466915 )
2015
28
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
29
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. ( 26096001 )
2015
30
I+IIbI^3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. ( 25827233 )
2015
31
Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry. ( 25537026 )
2014
32
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. ( 24829739 )
2014
33
Unusual redo mitral valve replacement for bleeding in Glanzmann thrombasthenia. ( 24904176 )
2014
34
Use of allogeneic stem cell transplantation for moderate-severe Glanzmann thrombasthenia. ( 25548835 )
2014
35
Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets. ( 24477274 )
2014
36
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. ( 25373348 )
2014
37
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. ( 24418945 )
2014
38
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
39
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. ( 24342105 )
2013
40
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. ( 24319190 )
2013
41
Lessons from recurrent deep vein thrombosis in Glanzmann thrombasthenia. ( 23992524 )
2013
42
Demonstration of novel gain-of-function mutations of I+IIbI^3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. ( 24498605 )
2013
43
Glanzmann thrombasthenia: state of the art and future directions. ( 23929305 )
2013
44
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. ( 24357714 )
2013
45
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
46
High-level transgene expression in induced pluripotent stem cell-derived megakaryocytes: correction of Glanzmann thrombasthenia. ( 24335497 )
2013
47
Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia. ( 23346430 )
2012
48
A mutation in the I^3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of I+IIb I^3 to an active state. ( 22136613 )
2012
49
Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families. ( 22513797 )
2012
50
Natural history of platelet antibody formation against I+IIbI^3 in a French cohort of Glanzmann thrombasthenia patients. ( 22250950 )
2012

Variations for Glanzmann Thrombasthenia

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

71 (show top 50) (show all 61)
id 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
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 29)
id 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 ITGA2B, 4.5-KB DEL, EX2-9 deletion Pathogenic
3 ITGA2B NM_000419.4(ITGA2B): c.1750C> T (p.Arg584Ter) single nucleotide variant Pathogenic rs137852906 GRCh37 Chromosome 17, 42457372: 42457372
4 ITGA2B NM_000419.4(ITGA2B): c.2602-3C> G single nucleotide variant Pathogenic rs763330792 GRCh37 Chromosome 17, 42453087: 42453087
5 ITGA2B NM_000419.4(ITGA2B): c.818G> A (p.Gly273Asp) single nucleotide variant Pathogenic rs137852907 GRCh37 Chromosome 17, 42461935: 42461935
6 ITGA2B NM_000419.4(ITGA2B): c.1544+1G> A single nucleotide variant Pathogenic rs879255509 GRCh37 Chromosome 17, 42457753: 42457753
7 ITGA2B NM_000419.4(ITGA2B): c.1073G> A (p.Arg358His) single nucleotide variant Pathogenic rs137852908 GRCh37 Chromosome 17, 42460998: 42460998
8 ITGA2B NM_000419.4(ITGA2B): c.1253G> A (p.Gly418Asp) single nucleotide variant Pathogenic rs137852909 GRCh37 Chromosome 17, 42458387: 42458387
9 ITGA2B NM_000419.4(ITGA2B): c.1366_1371delGTAGAC (p.Val456_Asp457del) deletion Pathogenic rs780017389 GRCh37 Chromosome 17, 42458269: 42458274
10 ITGA2B NM_000419.4(ITGA2B): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs137852910 GRCh37 Chromosome 17, 42461008: 42461008
11 ITGA2B NM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr) single nucleotide variant Pathogenic rs76811038 GRCh37 Chromosome 17, 42457148: 42457148
12 ITGA2B NM_000419.4(ITGA2B): c.641T> C (p.Leu214Pro) single nucleotide variant Pathogenic rs137852911 GRCh37 Chromosome 17, 42462561: 42462561
13 ITGA2B NM_000419.4(ITGA2B): c.2870C> T (p.Ser957Leu) single nucleotide variant Pathogenic rs80002943 GRCh37 Chromosome 17, 42452100: 42452100
14 ITGA2B NM_000419.4(ITGA2B): c.1878G> C (p.Gln626His) single nucleotide variant Pathogenic rs80277041 GRCh37 Chromosome 17, 42457057: 42457057
15 ITGB3 NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln) single nucleotide variant Pathogenic rs121918444 GRCh37 Chromosome 17, 45363730: 45363730
16 ITGB3 NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr) single nucleotide variant Pathogenic rs121918445 GRCh37 Chromosome 17, 45361880: 45361880
17 ITGB3 NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp) single nucleotide variant Pathogenic rs121918446 GRCh37 Chromosome 17, 45363729: 45363729
18 ITGB3 NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro) single nucleotide variant Pathogenic rs121918447 GRCh37 Chromosome 17, 45387535: 45387535
19 ITGB3 NM_000212.2(ITGB3): c.176T> C (p.Leu59Pro) single nucleotide variant risk factor rs5918 GRCh37 Chromosome 17, 45360730: 45360730
20 ITGB3 ITGB3, IVSiDS, G-T, EXiDEL deletion Pathogenic
21 ITGB3 NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs121918449 GRCh37 Chromosome 17, 45368393: 45368393
22 ITGB3 ITGB3, 11.2-KB DEL deletion Pathogenic
23 ITGB3 NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs121918450 GRCh37 Chromosome 17, 45384950: 45384950
24 ITGB3 NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter) single nucleotide variant Pathogenic rs121918451 GRCh37 Chromosome 17, 45377854: 45377854
25 ITGB3 ITGB3, 11-BP DEL, EX12 deletion Pathogenic
26 ITGB3 NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp) single nucleotide variant Pathogenic rs121918452 GRCh37 Chromosome 17, 45361875: 45361875
27 ITGB3 NM_000212.2(ITGB3): c.836A> T (p.Lys279Met) single nucleotide variant Pathogenic rs79775494 GRCh37 Chromosome 17, 45364494: 45364494
28 ITGB3 NM_000212.2(ITGB3): c.740G> A (p.Gly247Asp) single nucleotide variant Pathogenic rs79560904 GRCh37 Chromosome 17, 45363751: 45363751
29 ITGA2B NM_000419.4(ITGA2B): c.2333A> C (p.Gln778Pro) single nucleotide variant Likely pathogenic rs74475415 GRCh37 Chromosome 17, 42453691: 42453691

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 GeneCards Suite gene sharing:

(show all 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 F2 F2R ITGA2 ITGA2B ITGB3 VTN
2
Show member pathways
12.76 ITGA2 ITGA2B ITGB3 VTN VWF
3
Show member pathways
12.74 F2 F2R ITGA2 ITGA2B ITGB3
4
Show member pathways
12.6 ITGA2 ITGA2B ITGB3 VTN
5 12.55 F2R ITGA2 ITGA2B ITGB3 VTN VWF
6 12.51 F2 F2R ITGA2 ITGA2B ITGB3
7
Show member pathways
12.51 CD9 F2 F2R F3 F8 F9
8
Show member pathways
12.09 GP1BA GP9 ITGA2 ITGA2B ITGB3 VTN
9 12.01 F2 F2R F3 F8 F9 VTN
10
Show member pathways
11.96 F2 F2R F3 F8 F9 GP1BA
11
Show member pathways
11.94 ITGA2B ITGB3 VWF
12
Show member pathways
11.9 F2 GP1BA GP9 ITGA2B ITGB3 VWF
13
Show member pathways
11.89 ITGA2 ITGA2B ITGB3
14 11.89 GP1BA ITGA2 ITGA2B ITGB3
15 11.89 F2R GP1BA GP9 ITGA2 ITGA2B ITGB3
16 11.87 CD9 GP1BA GP9 ITGA2 ITGA2B ITGB3
17 11.81 ITGA2 ITGA2B ITGB3
18 11.74 ITGA2 ITGA2B ITGB3 VTN
19 11.72 F3 ITGB3 VWF
20
Show member pathways
11.59 ITGA2 ITGB3 VTN
21 11.55 ITGA2 ITGA2B ITGB3 VTN
22 11.43 GP1BA SELP VTN
23 11.42 GP9 ITGA2B ITGB3
24 11.34 ITGA2 ITGB3 VTN
25 11.21 F2 F2R GP9 ITGA2 ITGA2B ITGB3
26 11.08 ITGA2B ITGB3
27 11.04 F2 F2R
28 10.95 ITGA2B ITGB3
29 10.87 GP1BA GP9 ITGA2 VWF
30 10.79 F2 F9
31 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)
id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 CD9 F2R GP1BA GP9 ITGA2B ITGB3
2 plasma membrane GO:0005886 9.93 CD9 F2 F2R F3 F8 F9
3 focal adhesion GO:0005925 9.8 CD9 ITGA2 ITGA2B ITGB3
4 Golgi lumen GO:0005796 9.65 F2 F9 VTN
5 external side of plasma membrane GO:0009897 9.65 CD9 F2 ITGA2 ITGA2B SELP
6 integrin complex GO:0008305 9.5 ITGA2 ITGA2B ITGB3
7 cell surface GO:0009986 9.5 CD9 F2R F3 GP1BA ITGA2 ITGA2B
8 alphav-beta3 integrin-vitronectin complex GO:0071062 9.37 ITGB3 VTN
9 platelet alpha granule membrane GO:0031092 8.92 CD9 ITGA2B ITGB3 SELP
10 extracellular exosome GO:0070062 10.06 CD9 F2 F3 F9 GP1BA ITGA2B
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)
id 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 ER to Golgi vesicle-mediated transport GO:0006888 9.82 F2 F8 F9
5 cell-matrix adhesion GO:0007160 9.8 ITGA2 ITGA2B ITGB3 VTN
6 extracellular matrix organization GO:0030198 9.8 ITGA2 ITGA2B ITGB3 VTN VWF
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 platelet aggregation GO:0070527 9.71 GP1BA ITGA2B ITGB3
11 positive regulation of collagen biosynthetic process GO:0032967 9.7 F2 F2R ITGA2
12 regulation of blood coagulation GO:0030193 9.69 F2 F2R GP1BA
13 cell-substrate adhesion GO:0031589 9.65 ITGA2 ITGB3 VWF
14 blood coagulation GO:0007596 9.65 F2 F2R F3 F8 F9 GP1BA
15 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.64 F2 F2R
16 positive regulation of smooth muscle contraction GO:0045987 9.64 F2R ITGA2
17 fibrinolysis GO:0042730 9.63 F2 GP1BA
18 signal peptide processing GO:0006465 9.63 F2 F9
19 cell adhesion mediated by integrin GO:0033627 9.63 ITGA2 ITGB3 VTN
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 positive regulation of blood coagulation GO:0030194 9.61 F2 F2R
24 mesodermal cell differentiation GO:0048333 9.61 ITGA2 ITGB3
25 positive regulation of leukocyte migration GO:0002687 9.61 ITGA2 ITGA2B SELP
26 positive regulation of positive chemotaxis GO:0050927 9.6 F3 ITGA2
27 peptidyl-glutamic acid carboxylation GO:0017187 9.58 F2 F9
28 thrombin-activated receptor signaling pathway GO:0070493 9.58 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:

id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.58 F2 SELP VTN
2 protease binding GO:0002020 9.5 F3 ITGB3 VWF
3 lipopolysaccharide binding GO:0001530 9.43 F2 SELP
4 collagen binding GO:0005518 9.43 ITGA2 VTN VWF
5 thrombin-activated receptor activity GO:0015057 9.16 F2R GP1BA
6 extracellular matrix binding GO:0050840 9.13 ITGA2B ITGB3 VTN
7 integrin binding GO:0005178 8.92 CD9 ITGA2 VTN VWF
8 protein binding GO:0005515 10.18 CD9 F2 F2R F3 F8 GP1BA

Sources for Glanzmann Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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