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MCID: THR035
MIFTS: 48

Thrombasthenia

Categories: Blood diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Thrombasthenia

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MalaCards integrated aliases for Thrombasthenia:

Name: Thrombasthenia 20 6 70

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 70 C0040015
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Summaries for Thrombasthenia

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MalaCards based summary : Thrombasthenia is related to glanzmann thrombasthenia 2 and bleeding disorder, platelet-type, 16. An important gene associated with Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include heart, myeloid and whole blood, and related phenotypes are cellular and growth/size/body region

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Related Diseases for Thrombasthenia

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

(show top 50) (show all 281)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 2 32.7 ITGB3 EFCAB13-DT
2 bleeding disorder, platelet-type, 16 32.5 ITGB3 ITGA2B EFCAB13-DT
3 bleeding disorder, platelet-type, 24 32.4 ITGB3 EFCAB13-DT
4 glanzmann thrombasthenia 1 31.5 VTN PTK2 ITGB3 ITGA2B ITGA2 GP9
5 purpura 30.6 ITGB3 ITGA2B GP1BA F3 F2
6 factor viii deficiency 30.2 F5 F3 F2
7 factor vii deficiency 30.1 F3 F2 EGF
8 active peptic ulcer disease 30.1 F3 F2
9 autosomal dominant macrothrombocytopenia 30.0 ITGB3 ITGA2B GP1BA EFCAB13-DT
10 hemopericardium 30.0 F3 F2
11 qualitative platelet defect 30.0 F3 F2
12 prothrombin deficiency 30.0 F3 F2
13 fetal and neonatal alloimmune thrombocytopenia 30.0 ITGB3 ITGA2B ITGA2 GP1BA
14 factor xiii deficiency 29.9 F5 F3 F2
15 factor xi deficiency 29.9 F5 F3 F2
16 disseminated intravascular coagulation 29.8 F5 F3 F2
17 acquired von willebrand syndrome 29.8 GP1BA F3 F2
18 von willebrand's disease 29.6 SELP ITGA2B GP9 GP1BA F3 F2
19 sickle cell anemia 29.5 MTHFR ITGB3 ITGA2B GP1BA F2
20 thrombocytopenia due to platelet alloimmunization 29.4 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
21 gray platelet syndrome 29.4 SELP ITGA2B GP9 CD36
22 thrombocytosis 29.3 SELP F3 F2
23 bernard-soulier syndrome 29.3 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
24 thrombocytopenic purpura, autoimmune 29.3 SELP ITGB3 ITGA2B GP1BA
25 hemorrhagic disease 29.1 SELP ITGB3 ITGA2B ITGA2 GP1BA F5
26 blood platelet disease 29.1 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
27 thrombophilia 29.1 SELP MTHFR ITGB3 F5 F3 F2
28 thrombosis 28.8 SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
29 thrombocytopenia 28.3 SELP MTHFR ITGB3 ITGA2B ITGA2 HPSE
30 myocardial infarction 28.2 SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
31 vascular disease 28.0 VTN SELP MTHFR ITGB3 ITGA2B ITGA2
32 bleeding disorder, platelet-type, 17 11.4
33 schlegelberger grote syndrome 10.9
34 leukocyte adhesion deficiency, type i 10.9
35 congenital disorder of glycosylation, type iic 10.9
36 leukocyte adhesion deficiency, type iii 10.9
37 autosomal recessive disease 10.4
38 paracetamol poisoning 10.4 F5 F2
39 basilar artery occlusion 10.4 ITGA2B F2
40 sticky platelet syndrome 10.4 ITGB3 F5
41 rare hemorrhagic disorder 10.3
42 lateral sinus thrombosis 10.3 MTHFR F2
43 achenbach syndrome 10.3 F3 F2
44 amaurosis fugax 10.3 MTHFR F5
45 prothrombin thrombophilia 10.3 MTHFR F2
46 renal pelvis squamous cell carcinoma 10.3 F3 F2
47 synovial angioma 10.3 F3 F2
48 papillary adenofibroma 10.3 F3 F2
49 femoral neuropathy 10.3 F3 F2
50 emphysematous cholecystitis 10.3 F3 F2

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to Thrombasthenia
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Symptoms & Phenotypes for Thrombasthenia

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MGI Mouse Phenotypes related to Thrombasthenia:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.26 CD36 F2 F3 GP1BA HPSE ITGA2
2 growth/size/body region MP:0005378 10.25 CD36 EGF F2 F3 F5 GP9
3 cardiovascular system MP:0005385 10.24 CD36 F2 F3 F5 HPSE ITGA2B
4 hematopoietic system MP:0005397 10.18 CD36 F3 GP1BA GP9 HPSE ITGA2
5 homeostasis/metabolism MP:0005376 10.18 CD36 F2 F3 F5 GP1BA ITGA2
6 immune system MP:0005387 10.06 CD36 EGF F2 F3 GP9 HPSE
7 integument MP:0010771 10.03 EGF F2 F3 F5 HPSE ITGA2
8 digestive/alimentary MP:0005381 10 CD36 EGF F2 ITGA2B ITGB3 PTK2
9 liver/biliary system MP:0005370 9.76 CD36 F5 ITGB3 MTHFR PSMG1 PTK2
10 nervous system MP:0003631 9.7 CD36 F2 F3 F5 ITGA2B ITGB3
11 normal MP:0002873 9.23 EGF F2 F3 ITGA2 ITGB3 PSMG1
Sources

Drugs & Therapeutics for Thrombasthenia

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3 Immunologic Factors Phase 2
4 Hemostatics Phase 1, Phase 2
5 Antirheumatic Agents Phase 2
6 Immunosuppressive Agents Phase 2
7 Alkylating Agents Phase 2
8 Antimetabolites Phase 2
9
Abatacept Approved Phase 1 332348-12-6 10237
10
Mycophenolic acid Approved Phase 1 24280-93-1 446541
11 Cyclosporins Phase 1
12
Iron Approved 7439-89-6 23925 29936
13
alemtuzumab Approved, Investigational 216503-57-0
14
Busulfan Approved, Investigational 55-98-1 2478
15
Sodium citrate Approved, Investigational 68-04-2
16
Alefacept Approved, Investigational, Withdrawn 222535-22-0
17
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
18 Antifibrinolytic Agents
19 Immunoglobulins
20 Vaccines
21 Antibodies
22 Antilymphocyte Serum
23 Citrate
24 Factor VIII
25 Dermatologic Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Phase 1/2 Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Safety, and Efficacy of Marzeptacog Alfa (Activated) in Treatment of Episodic Bleeding in Subjects With Inherited Bleeding Disorders Recruiting NCT04548791 Phase 1, Phase 2
2 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
3 A Single-centre, Randomised, Double-blind, Two-way Cross-over Trial Investigating the Bio-equivalence in Healthy Male Subjects of NovoSeven (CP-rFVIIa) and a Formulation of NovoSeven Stable at 25°C (VII25) Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
4 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
5 Efficacy of NovoSeven® (Activated Recombinant Human Factor VII): Non-interventional Study in Patients With Congenital Haemophilia With Inhibitors, Acquired Haemophilia, Factor FVII Deficiency, and Glanzmann's Thrombasthenia Completed NCT00697320 eptacog alfa (activated)
6 A Multicentre, Non-interventional, Observational Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
7 Treatment of Glanzmann's Thrombasthenia: A Prospective Observational Registry Completed NCT01476423 activated recombinant human factor VII
8 Anti-αIIbβ3 Immunization in Glanzmann Thrombasthenia: Prevalence and Associated Risk Factors: Thrombasthenia Anti-αIIbβ3 Antibodies Study (TAAS) Recruiting NCT04595617
9 Studies of Interactions Among Normal and Abnormal Blood Cells, and the Vessel Wall, and Studies of Genetic and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell and Coagulation Disorders Recruiting NCT00230165
10 MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
11 A Post-Marketing, Observational Study in Iran to Determine the Immunogenicity Status in Patients Who Have Received rFVIIa AryoSeven. Enrolling by invitation NCT03372993
12 Interest of Sublingual Videomicroscopy for the Prediction of Bleeding in Von Willebrand Disease and Other Constitutional Haemorrhagic Diseases Not yet recruiting NCT04119908
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Thrombasthenia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


recombinant FVIIa
Sources

Genetic Tests for Thrombasthenia

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Anatomical Context for Thrombasthenia

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MalaCards organs/tissues related to Thrombasthenia:

40
Heart, Myeloid, Whole Blood, Bone Marrow, Bone, Endothelial, Monocytes
Sources

Publications for Thrombasthenia

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Articles related to Thrombasthenia:

(show top 50) (show all 1349)
# Title Authors PMID Year
1
Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion. 61 6
32237906 2020
2
Glanzmann thrombasthenia: genetic basis and clinical correlates. 6 61
32139434 2020
3
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. 61 6
31088191 2020
4
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. 61 6
31565851 2019
5
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. 6 61
30792900 2019
6
Clinical and molecular insights into Glanzmann's thrombasthenia in China. 61 6
29675921 2018
7
[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia]. 61 6
30138987 2018
8
Novel mutations in Thai patients with glanzmann thrombasthenia. 61 6
28888044 2017
9
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. 61 6
28232155 2017
10
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. 61 6
27696190 2017
11
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. 6 61
26096001 2016
12
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. 61 6
25728920 2015
13
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. 61 6
25373348 2015
14
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia. 61 6
25827233 2015
15
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. 6 61
25539746 2014
16
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. 6 61
24418945 2014
17
Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. 61 6
24236036 2013
18
A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure. 61 6
22394243 2013
19
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. 6 61
22190468 2012
20
Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients. 61 6
22250950 2012
21
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. 61 6
21917754 2011
22
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. 6 61
21487445 2011
23
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? 6 61
21557682 2011
24
Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. 61 6
20492470 2010
25
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 6 61
20020534 2010
26
Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families. 6 61
19170775 2010
27
A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia. 61 6
20438394 2010
28
Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. 6 61
21113249 2010
29
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. 61 6
19691478 2009
30
Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. 61 6
19172520 2009
31
AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3. 6 61
18791937 2008
32
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. 6 61
16879215 2006
33
Glanzmann thrombasthenia. 6 61
16722529 2006
34
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). 61 6
16463284 2006
35
A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa. 6 61
15886807 2005
36
Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case. 6 61
15748238 2005
37
Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. 61 6
15099289 2004
38
Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene. 61 6
14629479 2003
39
Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 6 61
12424194 2003
40
A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. 6 61
12181054 2002
41
Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3. 61 6
12353082 2002
42
Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia. 61 6
12152649 2002
43
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. 6 61
12083483 2002
44
Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa. 61 6
12008952 2002
45
Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. 6 61
11798398 2001
46
A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function. 61 6
11776310 2001
47
Probing conformational changes in the I-like domain and the cysteine-rich repeat of human beta 3 integrins following disulfide bond disruption by cysteine mutations: identification of cysteine 598 involved in alphaIIbbeta3 activation. 6 61
11507099 2001
48
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. 61 6
11091187 2000
49
A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. 6 61
10607701 2000
50
Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. 6 61
10233432 1999
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Variations for Thrombasthenia

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ClinVar genetic disease variations for Thrombasthenia:

6 (show top 50) (show all 375)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGA2B NM_000419.5(ITGA2B):c.409-2_419del Deletion Pathogenic 2889 rs879255508 GRCh37: 17:42463074-42463086
GRCh38: 17:44385706-44385718
2 ITGA2B ITGA2B, 4.5-KB DEL, EX2-9 Deletion Pathogenic 2890 GRCh37:
GRCh38:
3 ITGA2B NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) SNV Pathogenic 2892 rs137852906 GRCh37: 17:42457372-42457372
GRCh38: 17:44380004-44380004
4 ITGA2B NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) SNV Pathogenic 2894 rs137852907 GRCh37: 17:42461935-42461935
GRCh38: 17:44384567-44384567
5 ITGA2B NM_000419.5(ITGA2B):c.1544+1G>A SNV Pathogenic 2895 rs879255509 GRCh37: 17:42457753-42457753
GRCh38: 17:44380385-44380385
6 ITGA2B NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) Deletion Pathogenic 2898 rs780017389 GRCh37: 17:42458269-42458274
GRCh38: 17:44380901-44380906
7 ITGA2B NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) SNV Pathogenic 2899 rs137852910 GRCh37: 17:42461008-42461008
GRCh38: 17:44383640-44383640
8 ITGA2B NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) SNV Pathogenic 2901 rs137852911 GRCh37: 17:42462561-42462561
GRCh38: 17:44385193-44385193
9 ITGB3 NM_000212.2(ITGB3):c.433G>T (p.Asp145Tyr) SNV Pathogenic 13554 rs121918445 GRCh37: 17:45361880-45361880
GRCh38: 17:47284514-47284514
10 ITGA2B NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) SNV Pathogenic 2900 rs76811038 GRCh37: 17:42457148-42457148
GRCh38: 17:44379780-44379780
11 ITGA2B NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) SNV Pathogenic 225393 rs74475415 GRCh37: 17:42453691-42453691
GRCh38: 17:44376323-44376323
12 ITGA2B NM_000419.5(ITGA2B):c.2094+2T>C SNV Pathogenic 458368 rs1555613692 GRCh37: 17:42455728-42455728
GRCh38: 17:44378360-44378360
13 ITGA2B NM_000419.5(ITGA2B):c.1946+1G>A SNV Pathogenic 569057 rs746091910 GRCh37: 17:42456010-42456010
GRCh38: 17:44378642-44378642
14 ITGA2B NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) SNV Pathogenic 626927 rs1598377051 GRCh37: 17:42453680-42453680
GRCh38: 17:44376312-44376312
15 ITGA2B NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) Deletion Pathogenic 627052 rs1598375779 GRCh37: 17:42452087-42452087
GRCh38: 17:44374719-44374719
16 ITGA2B NM_000419.5(ITGA2B):c.409-1G>A SNV Pathogenic 627063 rs1393747638 GRCh37: 17:42463085-42463085
GRCh38: 17:44385717-44385717
17 ITGA2B NM_000419.5(ITGA2B):c.559del (p.Val187fs) Deletion Pathogenic 627093 rs1469711487 GRCh37: 17:42462934-42462934
GRCh38: 17:44385566-44385566
18 ITGB3 NM_000212.2(ITGB3):c.1409dup (p.Asn470fs) Duplication Pathogenic 627234 rs1386425657 GRCh37: 17:45369651-45369652
GRCh38: 17:47292285-47292286
19 ITGA2B NM_000419.5(ITGA2B):c.1440-1G>A SNV Pathogenic 627239 rs1598379928 GRCh37: 17:42457859-42457859
GRCh38: 17:44380491-44380491
20 ITGA2B NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) Deletion Pathogenic 627292 rs1598375578 GRCh37: 17:42451790-42451790
GRCh38: 17:44374422-44374422
21 ITGB3 NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) SNV Pathogenic 812736 rs958609406 GRCh37: 17:45362012-45362012
GRCh38: 17:47284646-47284646
22 ITGA2B NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) Duplication Pathogenic 627273 rs1598377980 GRCh37: 17:42455104-42455105
GRCh38: 17:44377736-44377737
23 ITGA2B NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) SNV Pathogenic 854735 GRCh37: 17:42463079-42463079
GRCh38: 17:44385711-44385711
24 ITGA2B NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) SNV Pathogenic 953000 GRCh37: 17:42462967-42462967
GRCh38: 17:44385599-44385599
25 ITGA2B NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) Microsatellite Pathogenic 953001 GRCh37: 17:42460993-42460996
GRCh38: 17:44383625-44383628
26 ITGA2B NM_000419.5(ITGA2B):c.1440-13_1440-1del Deletion Pathogenic 953002 GRCh37: 17:42457859-42457871
GRCh38: 17:44380491-44380503
27 ITGA2B NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) SNV Pathogenic 953004 GRCh37: 17:42458426-42458426
GRCh38: 17:44381058-44381058
28 ITGB3 NM_000212.3(ITGB3):c.2014+1G>A SNV Pathogenic 953009 GRCh37: 17:45377945-45377945
GRCh38: 17:47300579-47300579
29 ITGA2B NM_000419.5(ITGA2B):c.624+2C>A SNV Pathogenic 953013 GRCh37: 17:42462652-42462652
GRCh38: 17:44385284-44385284
30 ITGA2B NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) SNV Pathogenic 953019 GRCh37: 17:42452041-42452041
GRCh38: 17:44374673-44374673
31 ITGA2B NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) Duplication Pathogenic 953023 GRCh37: 17:42455099-42455100
GRCh38: 17:44377731-44377732
32 ITGA2B NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) SNV Pathogenic 381748 rs780786843 GRCh37: 17:42458406-42458406
GRCh38: 17:44381038-44381038
33 ITGB3 NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) Duplication Pathogenic 953026 GRCh37: 17:45367136-45367137
GRCh38: 17:47289770-47289771
34 ITGA2B NM_000419.5(ITGA2B):c.1545-1del Deletion Pathogenic 953017 GRCh37: 17:42457670-42457670
GRCh38: 17:44380302-44380302
35 ITGB3 NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) Duplication Pathogenic 953030 GRCh37: 17:45351826-45351827
GRCh38: 17:47274460-47274461
36 ITGA2B NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) SNV Pathogenic 953031 GRCh37: 17:42457504-42457504
GRCh38: 17:44380136-44380136
37 ITGA2B NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) SNV Pathogenic 953033 GRCh37: 17:42456075-42456075
GRCh38: 17:44378707-44378707
38 ITGA2B NM_000419.5(ITGA2B):c.291del (p.Ser98fs) Deletion Pathogenic 953034 GRCh37: 17:42463397-42463397
GRCh38: 17:44386029-44386029
39 ITGA2B NM_000419.5(ITGA2B):c.91del (p.Ala31fs) Deletion Pathogenic 953035 GRCh37: 17:42466751-42466751
GRCh38: 17:44389383-44389383
40 ITGA2B NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) Duplication Pathogenic 953045 GRCh37: 17:42452054-42452055
GRCh38: 17:44374686-44374687
41 ITGB3 NM_000212.3(ITGB3):c.1791del (p.Asn597fs) Deletion Pathogenic 953049 GRCh37: 17:45376774-45376774
GRCh38: 17:47299408-47299408
42 ITGB3 NM_000212.3(ITGB3):c.79+1G>A SNV Pathogenic 953050 GRCh37: 17:45331307-45331307
GRCh38: 17:47253941-47253941
43 ITGB3 NM_000212.3(ITGB3):c.2113del (p.Leu705fs) Deletion Pathogenic 953051 GRCh37: 17:45380184-45380184
GRCh38: 17:47302818-47302818
44 ITGB3 NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) Microsatellite Pathogenic 953052 GRCh37: 17:45363783-45363784
GRCh38: 17:47286417-47286418
45 ITGA2B NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) SNV Pathogenic 953054 GRCh37: 17:42453015-42453015
GRCh38: 17:44375647-44375647
46 ITGA2B NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) SNV Pathogenic 953055 GRCh37: 17:42457510-42457510
GRCh38: 17:44380142-44380142
47 ITGA2B NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) SNV Pathogenic 953056 GRCh37: 17:42462433-42462433
GRCh38: 17:44385065-44385065
48 ITGA2B NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) SNV Pathogenic 381747 rs78657866 GRCh37: 17:42451838-42451838
GRCh38: 17:44374470-44374470
49 ITGA2B NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) SNV Pathogenic 953058 GRCh37: 17:42455140-42455140
GRCh38: 17:44377772-44377772
50 ITGB3 NM_000212.3(ITGB3):c.1550del (p.Gly517fs) Deletion Pathogenic 953059 GRCh37: 17:45369792-45369792
GRCh38: 17:47292426-47292426
Sources

Expression for Thrombasthenia

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Search GEO for disease gene expression data for Thrombasthenia.
Sources

Pathways for Thrombasthenia

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Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 63
Show member pathways
 13.34 VTN PTK2 ITGB3 ITGA2B ITGA2 F2
2
PI3K-Akt signaling pathway 36
Show member pathways
 12.93 VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
3
Focal Adhesion 36 1
Show member pathways
 12.81 VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
4
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.81 SELP PTK2 ITGB3 ITGA2B ITGA2 GP9
5
Pathways in cancer 36
12.78 PTK2 ITGA2B ITGA2 F2 EGF
6
Development Angiotensin activation of ERK 23
Show member pathways
 12.77 PTK2 ITGB3 ITGA2B ITGA2 F2
7
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.62 PTK2 ITGB3 ITGA2B ITGA2 EGF
8
Regulation of actin cytoskeleton 36 1
12.54 PTK2 ITGB3 ITGA2B ITGA2 F2 EGF
9
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.52 VTN PTK2 ITGB3 ITGA2
10
MET promotes cell motility 65
Show member pathways
 12.43 VTN PTK2 ITGB3 ITGA2
11
VEGF Pathway (Qiagen) 63
Show member pathways
 12.35 VTN PTK2 ITGB3 EGF
12
Proteoglycans in cancer 36
12.22 VTN PTK2 ITGB3 ITGA2 HPSE
13
Actin Dynamics Signaling Pathway 66
12.19 PTK2 ITGB3 ITGA2B ITGA2
14
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.16 PTK2 ITGB3 ITGA2B ITGA2
15
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 12.06 GP9 GP1BA F5 F3 F2
16
Complement and coagulation cascades 36 1
12.04 VTN F5 F3 F2
17
Platelet activation 36
11.94 ITGB3 ITGA2B ITGA2 GP9 GP1BA F2
18
ECM-receptor interaction 36
Show member pathways
 11.89 VTN ITGB3 ITGA2B ITGA2 GP9 GP1BA
19
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.87 ITGB3 ITGA2B ITGA2 GP1BA CD36
20
Small cell lung cancer 36
11.81 PTK2 ITGA2B ITGA2
21
Hematopoietic cell lineage 36
11.79 ITGB3 ITGA2B ITGA2 GP9 GP1BA CD36
22
Phagocytosis of Microbes 63
11.75 VTN ITGB3 ITGA2B ITGA2
23
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.73 PTK2 ITGB3 ITGA2B GP9 GP1BA F2
24
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.69 VTN PTK2 ITGB3
25
G-protein signaling_RhoA regulation pathway 23
11.65 PTK2 ITGB3 ITGA2B ITGA2 EGF
26
IL4-mediated signaling events 1
11.62 SELP ITGB3 GTF3A
27
Signaling events mediated by PTP1B 1
11.5 ITGB3 ITGA2B EGF
28
ECM proteoglycans 65
11.49 VTN ITGB3 ITGA2B ITGA2
29
Cytoskeleton remodeling_RalA regulation pathway 23
11.48 PTK2 ITGB3 ITGA2B ITGA2
30
Hematopoietic Stem Cell Differentiation 1
11.46 ITGB3 ITGA2B GP9
31
amb2 Integrin signaling 1
11.46 VTN SELP GP1BA
32
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.36 VTN ITGB3 ITGA2
33
Articular Cartilage Extracellular Matrix Pathway 64
11.28 ITGA2B ITGA2 HPSE
34
Arf6 signaling events 1
11.24 ITGB3 ITGA2B EGF
35
G-protein signaling_Rap2B regulation pathway 23
10.97 PTK2 ITGB3 ITGA2B ITGA2 EGF
36
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
10.81 ITGB3 ITGA2B ITGA2 GP9 F2 CD36
37
Platelet Adhesion to exposed collagen 65
10.77 ITGA2 GP9 GP1BA
38
MFAP5-mediated ovarian cancer cell motility and invasiveness 1
10.74 PTK2 ITGB3
39
GP1b-IX-V activation signalling 65
10.65 GP9 GP1BA
Sources

GO Terms for Thrombasthenia

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 SELP PTK2 ITGB3 ITGA2B ITGA2 GP9
2 extracellular space GO:0005615 9.97 VTN SELP GP1BA F5 F3 F2
3 cell surface GO:0009986 9.73 ITGB3 ITGA2B ITGA2 GP1BA F3 CD36
4 external side of plasma membrane GO:0009897 9.72 SELP ITGA2B ITGA2 F2 CD36
5 alphav-beta3 integrin-vitronectin complex GO:0071062 9.16 VTN ITGB3
6 integrin complex GO:0008305 9.13 ITGB3 ITGA2B ITGA2
7 platelet alpha granule membrane GO:0031092 8.92 SELP ITGB3 ITGA2B CD36

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.88 VTN ITGB3 ITGA2B ITGA2
2 positive regulation of protein kinase B signaling GO:0051897 9.85 PTK2 HPSE F3 EGF
3 platelet activation GO:0030168 9.83 ITGB3 GP9 GP1BA F2
4 integrin-mediated signaling pathway GO:0007229 9.81 PTK2 ITGB3 ITGA2B ITGA2
5 cell adhesion GO:0007155 9.81 VTN SELP ITGB3 ITGA2B ITGA2 HPSE
6 wound healing GO:0042060 9.79 ITGB3 ITGA2 HPSE
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 VTN ITGB3 EGF CD36
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 SELP PTK2 F2 EGF
9 positive regulation of endothelial cell proliferation GO:0001938 9.73 ITGB3 F3 EGF
10 cell-matrix adhesion GO:0007160 9.72 VTN ITGB3 ITGA2B ITGA2 HPSE
11 platelet aggregation GO:0070527 9.71 ITGB3 ITGA2B GP1BA
12 cell adhesion mediated by integrin GO:0033627 9.67 VTN ITGB3 ITGA2
13 hemostasis GO:0007599 9.65 GP9 GP1BA F5 F3 F2
14 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.62 VTN ITGB3
15 mesodermal cell differentiation GO:0048333 9.61 ITGB3 ITGA2
16 blood coagulation, intrinsic pathway GO:0007597 9.61 GP9 GP1BA F2
17 regulation of blood coagulation GO:0030193 9.6 GP1BA F2
18 positive regulation of phagocytosis, engulfment GO:0060100 9.59 ITGA2 CD36
19 positive regulation of positive chemotaxis GO:0050927 9.58 ITGA2 F3
20 positive regulation of blood coagulation GO:0030194 9.58 HPSE F2 CD36
21 angiogenesis involved in wound healing GO:0060055 9.57 ITGB3 HPSE
22 positive regulation of leukocyte migration GO:0002687 9.54 SELP ITGA2B ITGA2
23 platelet degranulation GO:0002576 9.43 SELP ITGB3 ITGA2B F5 EGF CD36
24 blood coagulation GO:0007596 9.23 ITGB3 ITGA2 GP9 GP1BA F5 F3

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

# Name GO ID Score Top Affiliating Genes
1 fibrinogen binding GO:0070051 9.16 ITGB3 ITGA2B
2 thrombospondin receptor activity GO:0070053 8.96 F2 CD36
3 integrin binding GO:0005178 8.92 VTN PTK2 ITGB3 ITGA2
Sources

Sources for Thrombasthenia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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