MCID: THR035
MIFTS: 48

Thrombasthenia

Categories: Blood diseases, Rare diseases
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Aliases & Classifications for Thrombasthenia

MalaCards integrated aliases for Thrombasthenia:

Name: Thrombasthenia 19 75 5 71

Classifications:



External Ids:

UMLS 71 C0040015

Summaries for Thrombasthenia

MalaCards based summary: Thrombasthenia is related to glanzmann thrombasthenia 2 and bleeding disorder, platelet-type, 24. 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 whole blood, bone marrow and bone, and related phenotypes are homeostasis/metabolism and nervous system

Wikipedia: 75 Glanzmann's thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy... more...

Related Diseases for Thrombasthenia

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

(show top 50) (show all 343)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 2 32.6 ITGB3 EFCAB13-DT
2 bleeding disorder, platelet-type, 24 32.3 ITGB3 EFCAB13-DT
3 bleeding disorder, platelet-type, 16 32.2 ITGB3 ITGA2B EFCAB13-DT
4 qualitative platelet defect 31.4 SELP ITGA2B GP1BA F3 F2
5 glanzmann thrombasthenia 1 31.0 VTN SELP RASGRP2 PTK2 ITGB3 ITGA2B
6 hemophilia a 30.4 F5 F3 F2
7 hemorrhagic disease 30.4 ITGA2B GP1BA F5 F3 F2
8 factor viii deficiency 30.3 F5 F3 F2
9 purpura 30.2 SELP ITGB3 ITGA2B GP1BA F3 F2
10 factor vii deficiency 30.1 F3 F2 EGF
11 factor xiii deficiency 30.1 F5 F3 F2
12 bleeding disorder, platelet-type, 18 30.0 RASGRP2 ITGB3 ITGA2B
13 fetal and neonatal alloimmune thrombocytopenia 30.0 ITGB3 ITGA2B ITGA2 GP1BA
14 prothrombin deficiency, congenital 30.0 F5 F2
15 prothrombin deficiency 29.9 F3 F2
16 acquired von willebrand syndrome 29.9 GP1BA F3 F2
17 factor xii deficiency 29.8 F5 F3 F2
18 varicose veins 29.8 MTHFR F5 F2
19 factor xi deficiency 29.8 F5 F3 F2
20 von willebrand's disease 29.8 SELP ITGA2B GP9 GP1BA F5 F3
21 blood platelet disease 29.8 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
22 disseminated intravascular coagulation 29.8 F5 F3 F2
23 bernard-soulier syndrome 29.7 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
24 thrombocytopenia due to platelet alloimmunization 29.7 SELP ITGB3 ITGA2B ITGA2 GP9 GP1BA
25 thrombocytopenic purpura, autoimmune 29.7 SELP ITGB3 ITGA2B GP1BA F3 F2
26 hemophilia b 29.6 GP9 GP1BA F3 F2
27 gray platelet syndrome 29.6 SELP ITGA2B GP9 CD36
28 gingival overgrowth 29.6 ITGA2 EGF CD36
29 sickle cell anemia 29.5 SELP F3 F2 CD36
30 thrombophilia due to thrombin defect 29.5 SELP MTHFR F5 F3 F2
31 pulmonary embolism 29.5 MTHFR GP1BA F5 F3 F2
32 thrombocytosis 29.5 SELP F3 F2
33 atherosclerosis susceptibility 29.5 SELP MTHFR F3 CD36
34 thrombophilia 29.3 SELP MTHFR ITGB3 F5 F3 F2
35 thrombosis 29.0 SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
36 lipoprotein quantitative trait locus 29.0 SELP MTHFR ITGB3 ITGA2B F3 F2
37 vascular disease 28.6 VTN SELP MTHFR ITGA2 GP1BA F5
38 myocardial infarction 28.2 SELP MTHFR ITGB3 ITGA2B ITGA2 GP1BA
39 thrombocytopenia 28.0 SELP RASGRP2 MTHFR ITGB3 ITGA2B ITGA2
40 bleeding disorder, platelet-type, 17 11.4
41 schlegelberger grote syndrome 11.0
42 leukocyte adhesion deficiency, type i 11.0
43 leukocyte adhesion deficiency, type iii 11.0
44 congenital disorder of glycosylation, type iic 10.9
45 rare hemorrhagic disorder 10.4
46 malignant gastric germ cell tumor 10.3 ITGB3 ITGA2B
47 cerebral sinovenous thrombosis 10.3 F5 F2
48 childhood acute megakaryoblastic leukemia 10.3 ITGA2B GP1BA
49 lateral sinus thrombosis 10.3 MTHFR F2
50 central nervous system origin vertigo 10.3 MTHFR F2

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to Thrombasthenia

Symptoms & Phenotypes for Thrombasthenia

MGI Mouse Phenotypes related to Thrombasthenia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 CD36 F2 F3 F5 GP1BA HPSE
2 nervous system MP:0003631 10.17 CD36 F2 F3 F5 ITGA2B ITGB3
3 cellular MP:0005384 10.1 CD36 F2 F3 GP1BA HPSE ITGA2
4 liver/biliary system MP:0005370 10.01 CD36 F5 ITGB3 MTHFR PSMG1 PTK2
5 cardiovascular system MP:0005385 10 CD36 F2 F3 F5 HPSE ITGA2B
6 immune system MP:0005387 9.93 CD36 EGF F2 F3 GP9 HPSE
7 hematopoietic system MP:0005397 9.8 CD36 F2 F3 GP1BA GP9 HPSE
8 integument MP:0010771 9.44 CD36 EGF F2 F3 F5 HPSE

Drugs & Therapeutics for Thrombasthenia

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3 Antirheumatic Agents Phase 2
4 Immunosuppressive Agents Phase 2
5 Alkylating Agents Phase 2
6 Antineoplastic Agents, Alkylating Phase 2
7 Antimetabolites Phase 2
8 Hemostatics Phase 1, Phase 2
9
Abatacept Approved Phase 1 332348-12-6
10
Mycophenolic acid Approved, Investigational Phase 1 24280-93-1 446541
11 Immune Checkpoint Inhibitors Phase 1
12 Cyclosporins Phase 1
13
Busulfan Approved, Investigational 55-98-1 2478
14
Alemtuzumab Approved, Investigational 216503-57-0
15
Iron Approved 7439-89-6 29936
16
Sodium citrate Approved, Investigational 68-04-2 23431961
17
Alefacept Approved, Investigational, Withdrawn 222535-22-0
18
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
19 Antifibrinolytic Agents
20 Antilymphocyte Serum
21 Immunoglobulins
22 Antibodies
23 Factor VIII
24 Citrate
25 Immunologic Factors
26 Dermatologic Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Active, not recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 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 Terminated NCT04548791 Phase 1, Phase 2
3 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
4 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)
5 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)
6 Treatment of Glanzmann's Thrombasthenia: A Prospective Observational Registry Completed NCT01476423 activated recombinant human factor VII
7 A Post-Marketing, Observational Study in Iran to Determine the Immunogenicity Status in Patients Who Have Received rFVIIa AryoSeven. Completed NCT03372993
8 Glanzmanns 360. The Lived Experience of People With Glanzmanns. Recruiting NCT05315232
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 Anti-αIIbβ3 Immunization in Glanzmann Thrombasthenia: Prevalence and Associated Risk Factors: Thrombasthenia Anti-αIIbβ3 Antibodies Study (TAAS) Active, not recruiting NCT04595617
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 71 / NDF-RT 50 :


recombinant FVIIa

Genetic Tests for Thrombasthenia

Anatomical Context for Thrombasthenia

Organs/tissues related to Thrombasthenia:

MalaCards : Whole Blood, Bone Marrow, Bone, Monocytes, Myeloid, Endothelial, B Cells

Publications for Thrombasthenia

Articles related to Thrombasthenia:

(show top 50) (show all 1394)
# Title Authors PMID Year
1
Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion. 62 5
32237906 2020
2
Glanzmann thrombasthenia: genetic basis and clinical correlates. 62 5
32139434 2020
3
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. 62 5
31088191 2020
4
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. 62 5
31565851 2019
5
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. 62 5
30792900 2019
6
Clinical and molecular insights into Glanzmann's thrombasthenia in China. 62 5
29675921 2018
7
Novel mutations in Thai patients with glanzmann thrombasthenia. 62 5
28888044 2017
8
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. 62 5
28232155 2017
9
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. 62 5
27696190 2017
10
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. 62 5
26096001 2016
11
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. 62 5
25728920 2015
12
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia. 62 5
25827233 2015
13
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. 62 5
25373348 2015
14
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. 62 5
25539746 2014
15
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. 62 5
24418945 2014
16
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. 62 5
22394243 2013
17
Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. 62 5
24236036 2013
18
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. 62 5
22190468 2012
19
Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients. 62 5
22250950 2012
20
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. 62 5
21917754 2011
21
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? 62 5
21557682 2011
22
Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. 62 5
20492470 2010
23
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 62 5
20020534 2010
24
Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families. 62 5
19170775 2010
25
Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. 62 5
21113249 2010
26
A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia. 62 5
20438394 2010
27
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. 62 5
19691478 2009
28
Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. 62 5
19172520 2009
29
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. 62 5
18832906 2008
30
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. 62 5
16879215 2006
31
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). 62 5
16463284 2006
32
Glanzmann thrombasthenia. 62 5
16722529 2006
33
A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia. 62 5
16359514 2005
34
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. 62 5
15886807 2005
35
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. 62 5
15748238 2005
36
Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia. 62 5
15634267 2005
37
Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. 62 5
15099289 2004
38
Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene. 62 5
14629479 2003
39
Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 62 5
12424194 2003
40
Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3. 62 5
12353082 2002
41
A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. 62 5
12181054 2002
42
Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia. 62 5
12152649 2002
43
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. 62 5
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. 62 5
12008952 2002
45
Missense mutations in the beta(3) subunit have a different impact on the expression and function between alpha(IIb)beta(3) and alpha(v)beta(3). 62 5
11806996 2002
46
Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. 62 5
11798398 2001
47
A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function. 62 5
11776310 2001
48
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. 62 5
11507099 2001
49
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. 62 5
11091187 2000
50
A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. 62 5
10607701 2000

Variations for Thrombasthenia

ClinVar genetic disease variations for Thrombasthenia:

5 (show top 50) (show all 510)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGA2B NM_000419.5(ITGA2B):c.1544+1G>A SNV Pathogenic
2895 rs879255509 GRCh37: 17:42457753-42457753
GRCh38: 17:44380385-44380385
2 ITGA2B NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) SNV Pathogenic
2896 rs137852908 GRCh37: 17:42460998-42460998
GRCh38: 17:44383630-44383630
3 ITGA2B NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) SNV Pathogenic
631773 rs151179377 GRCh37: 17:42458283-42458283
GRCh38: 17:44380915-44380915
4 ITGA2B NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) SNV Pathogenic
626927 rs1598377051 GRCh37: 17:42453680-42453680
GRCh38: 17:44376312-44376312
5 ITGA2B NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) DEL Pathogenic
627052 rs1598375779 GRCh37: 17:42452087-42452087
GRCh38: 17:44374719-44374719
6 ITGA2B NM_000419.5(ITGA2B):c.559del (p.Val187fs) DEL Pathogenic
627093 rs1469711487 GRCh37: 17:42462934-42462934
GRCh38: 17:44385566-44385566
7 ITGB3 NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) SNV Pathogenic
812736 rs958609406 GRCh37: 17:45362012-45362012
GRCh38: 17:47284646-47284646
8 ITGB3 NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) DUP Pathogenic
627234 rs1386425657 GRCh37: 17:45369651-45369652
GRCh38: 17:47292285-47292286
9 ITGA2B NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) SNV Pathogenic
953033 rs1236922680 GRCh37: 17:42456075-42456075
GRCh38: 17:44378707-44378707
10 ITGA2B NM_000419.5(ITGA2B):c.291del (p.Ser98fs) DEL Pathogenic
953034 rs2048645725 GRCh37: 17:42463397-42463397
GRCh38: 17:44386029-44386029
11 ITGA2B NM_000419.5(ITGA2B):c.91del (p.Ala31fs) DEL Pathogenic
953035 rs2048678902 GRCh37: 17:42466751-42466751
GRCh38: 17:44389383-44389383
12 ITGB3 NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) DUP Pathogenic
953030 rs2065055824 GRCh37: 17:45351826-45351827
GRCh38: 17:47274460-47274461
13 ITGA2B NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) SNV Pathogenic
953031 rs1344768030 GRCh37: 17:42457504-42457504
GRCh38: 17:44380136-44380136
14 ITGB3 NM_000212.3(ITGB3):c.1791del (p.Asn597fs) DEL Pathogenic
953049 rs780710721 GRCh37: 17:45376774-45376774
GRCh38: 17:47299408-47299408
15 ITGB3 NM_000212.3(ITGB3):c.79+1G>A SNV Pathogenic
953050 rs2064977538 GRCh37: 17:45331307-45331307
GRCh38: 17:47253941-47253941
16 ITGB3 NM_000212.3(ITGB3):c.2113del (p.Leu705fs) DEL Pathogenic
953051 rs780384800 GRCh37: 17:45380184-45380184
GRCh38: 17:47302818-47302818
17 ITGB3 NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) MICROSAT Pathogenic
953052 rs2065103002 GRCh37: 17:45363783-45363784
GRCh38: 17:47286417-47286418
18 ITGA2B NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) SNV Pathogenic
953054 rs200846140 GRCh37: 17:42453015-42453015
GRCh38: 17:44375647-44375647
19 ITGA2B NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) SNV Pathogenic
953056 rs2048632227 GRCh37: 17:42462433-42462433
GRCh38: 17:44385065-44385065
20 ITGB3 NM_000212.3(ITGB3):c.1550del (p.Gly517fs) DEL Pathogenic
953059 rs1393664515 GRCh37: 17:45369792-45369792
GRCh38: 17:47292426-47292426
21 ITGA2B NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) DUP Pathogenic
953045 rs781644489 GRCh37: 17:42452054-42452055
GRCh38: 17:44374686-44374687
22 ITGB3 NM_000212.3(ITGB3):c.224del (p.Cys75fs) DEL Pathogenic
953063 rs753932639 GRCh37: 17:45360778-45360778
GRCh38: 17:47283412-47283412
23 ITGB3 NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) DUP Pathogenic
953026 rs2065118104 GRCh37: 17:45367136-45367137
GRCh38: 17:47289770-47289771
24 ITGA2B NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) DUP Pathogenic
953023 rs2048557642 GRCh37: 17:42455099-42455100
GRCh38: 17:44377731-44377732
25 ITGA2B NM_000419.5(ITGA2B):c.1545-1del DEL Pathogenic
953017 rs2048583710 GRCh37: 17:42457670-42457670
GRCh38: 17:44380302-44380302
26 ITGB3 NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) SNV Pathogenic
953061 rs1038392991 GRCh37: 17:45361952-45361952
GRCh38: 17:47284586-47284586
27 ITGA2B NM_000419.5(ITGA2B):c.624+2C>A SNV Pathogenic
953013 rs2048635467 GRCh37: 17:42462652-42462652
GRCh38: 17:44385284-44385284
28 ITGB3 NM_000212.3(ITGB3):c.2014+1G>A SNV Pathogenic
953009 rs2065163860 GRCh37: 17:45377945-45377945
GRCh38: 17:47300579-47300579
29 ITGA2B NM_000419.5(ITGA2B):c.1440-13_1440-1del DEL Pathogenic
953002 rs2048585829 GRCh37: 17:42457859-42457871
GRCh38: 17:44380491-44380503
30 ITGA2B NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) MICROSAT Pathogenic
953001 rs2048615633 GRCh37: 17:42460993-42460996
GRCh38: 17:44383625-44383628
31 ITGA2B NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter) SNV Pathogenic
953064 rs78218617 GRCh37: 17:42457994-42457994
GRCh38: 17:44380626-44380626
32 ITGB3 NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) SNV Pathogenic
977131 rs185135224 GRCh37: 17:45369885-45369885
GRCh38: 17:47292519-47292519
33 ITGB3 NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) SNV Pathogenic
977132 rs2065157059 GRCh37: 17:45376680-45376680
GRCh38: 17:47299314-47299314
34 ITGA2B NM_000419.5(ITGA2B):c.917dup (p.Arg307fs) DUP Pathogenic
996157 rs78321762 GRCh37: 17:42461480-42461481
GRCh38: 17:44384112-44384113
35 ITGB3 NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) SNV Pathogenic
996162 rs1181336139 GRCh37: 17:45376854-45376854
GRCh38: 17:47299488-47299488
36 ITGB3 NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) SNV Pathogenic
996164 rs758633284 GRCh37: 17:45363735-45363735
GRCh38: 17:47286369-47286369
37 ITGB3 NM_000212.3(ITGB3):c.1913+1G>A SNV Pathogenic
996179 rs2065158302 GRCh37: 17:45376897-45376897
GRCh38: 17:47299531-47299531
38 ITGB3 NM_000212.3(ITGB3):c.166-2A>G SNV Pathogenic
996186 rs75354240 GRCh37: 17:45360718-45360718
GRCh38: 17:47283352-47283352
39 ITGA2B NM_000419.5(ITGA2B):c.799+2T>C SNV Pathogenic
996191 rs1194700242 GRCh37: 17:42462314-42462314
GRCh38: 17:44384946-44384946
40 ITGA2B NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC (p.Val825fs) INDEL Pathogenic
996192 rs2048539289 GRCh37: 17:42453321-42453329
GRCh38: 17:44375953-44375961
41 ITGB3 NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) SNV Pathogenic
996193 rs75427428 GRCh37: 17:45351805-45351805
GRCh38: 17:47274439-47274439
42 ITGA2B NM_000419.5(ITGA2B):c.1879-2A>G SNV Pathogenic
996194 rs77229108 GRCh37: 17:42456080-42456080
GRCh38: 17:44378712-44378712
43 ITGA2B NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter) SNV Pathogenic
996195 rs79713558 GRCh37: 17:42462962-42462962
GRCh38: 17:44385594-44385594
44 ITGA2B NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter) SNV Pathogenic
996196 rs74602141 GRCh37: 17:42457450-42457450
GRCh38: 17:44380082-44380082
45 ITGA2B NM_000419.5(ITGA2B):c.1618del (p.Gln540fs) DEL Pathogenic
996199 rs2048581747 GRCh37: 17:42457504-42457504
GRCh38: 17:44380136-44380136
46 ITGA2B NM_000419.5(ITGA2B):c.693dup (p.Ala232fs) DUP Pathogenic
996204 rs2048632055 GRCh37: 17:42462421-42462422
GRCh38: 17:44385053-44385054
47 ITGA2B NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs) DUP Pathogenic
996206 rs75028796 GRCh37: 17:42456043-42456044
GRCh38: 17:44378675-44378676
48 ITGB3 NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) SNV Pathogenic
996209 rs1399113954 GRCh37: 17:45360816-45360816
GRCh38: 17:47283450-47283450
49 ITGA2B NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) SNV Pathogenic
996210 rs769405222 GRCh37: 17:42457470-42457470
GRCh38: 17:44380102-44380102
50 ITGA2B NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter) SNV Pathogenic
996211 rs2048550784 GRCh37: 17:42454408-42454408
GRCh38: 17:44377040-44377040

Expression for Thrombasthenia

Search GEO for disease gene expression data for Thrombasthenia.

Pathways for Thrombasthenia

Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 VTN PTK2 ITGB3 ITGA2B ITGA2 F2
2
Show member pathways
12.85 VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
3 12.75 PTK2 ITGB3 ITGA2 F3 EGF
4
Show member pathways
12.69 PTK2 ITGB3 ITGA2B ITGA2 EGF
5
Show member pathways
12.69 RASGRP2 PTK2 ITGB3 ITGA2B ITGA2 F2
6
Show member pathways
12.5 SELP RASGRP2 PTK2 ITGB3 ITGA2B ITGA2
7
Show member pathways
12.49 VTN PTK2 ITGB3 ITGA2
8
Show member pathways
12.47 VTN SELP ITGB3 ITGA2B ITGA2 F2
9
Show member pathways
12.35 VTN PTK2 ITGB3 EGF
10
Show member pathways
12.35 GP9 GP1BA F5 F3 F2
11
Show member pathways
12.16 PTK2 ITGB3 ITGA2B ITGA2
12
Show member pathways
12.13 PTK2 ITGB3 ITGA2B ITGA2
13
Show member pathways
12.11 VTN ITGB3 ITGA2B ITGA2
14 12.03 VTN PTK2 ITGB3 ITGA2B ITGA2 EGF
15
Show member pathways
11.96 VTN ITGB3 ITGA2B ITGA2
16 11.83 CD36 GP1BA ITGA2 ITGA2B ITGB3
17 11.81 PTK2 ITGA2B ITGA2
18 11.66 VTN PTK2 ITGB3
19 11.59 VTN PTK2 ITGB3
20 11.57 GTF3A ITGB3 SELP
21 11.57 RASGRP2 PTK2 ITGB3 ITGA2B ITGA2 EGF
22 11.53 VTN PTK2 ITGB3
23
Show member pathways
11.48 RASGRP2 PTK2 ITGB3 ITGA2B GP9 GP1BA
24 11.45 PTK2 ITGB3 ITGA2B ITGA2
25 11.41 ITGB3 ITGA2B EGF
26 11.34 ITGB3 ITGA2B ITGA2 GP9 F2 CD36
27 11.32 VTN ITGB3 ITGA2B
28 11.27 HPSE ITGA2 ITGA2B
29 11.19 ITGB3 ITGA2B EGF
30 11.19 ITGB3 ITGA2B F3 F2
31
Show member pathways
11.08 ITGA2 GP9 GP1BA
32 10.94 PTK2 ITGB3 ITGA2B ITGA2 EGF
33 10.91 ITGB3 ITGA2B

GO Terms for Thrombasthenia

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.8 SELP ITGB3 ITGA2B ITGA2 GP1BA F3
2 integrin complex GO:0008305 9.63 ITGB3 ITGA2B ITGA2
3 glycoprotein Ib-IX-V complex GO:1990779 9.62 GP9 GP1BA
4 alphav-beta3 integrin-vitronectin complex GO:0071062 9.56 VTN ITGB3
5 platelet alpha granule membrane GO:0031092 9.23 SELP ITGB3 ITGA2B CD36

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 10.13 PTK2 HPSE F3 EGF
2 integrin-mediated signaling pathway GO:0007229 10.11 PTK2 ITGB3 ITGA2B ITGA2
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.08 SELP PTK2 F2 EGF
4 cell adhesion GO:0007155 10.06 CD36 GP1BA GP9 HPSE ITGA2 ITGA2B
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 10.04 CD36 EGF ITGB3 VTN
6 cell-matrix adhesion GO:0007160 10.02 VTN ITGB3 ITGA2B ITGA2 HPSE
7 positive regulation of smooth muscle cell migration GO:0014911 9.93 VTN ITGB3 ITGA2
8 positive regulation of blood coagulation GO:0030194 9.91 HPSE F2 CD36
9 cerebellar granule cell precursor proliferation GO:0021930 9.86 PSMG1 EGF
10 cell adhesion mediated by integrin GO:0033627 9.86 VTN ITGB3 ITGA2B ITGA2
11 blood coagulation, intrinsic pathway GO:0007597 9.85 GP9 GP1BA
12 positive regulation of platelet activation GO:0010572 9.85 GP1BA GP9 SELP
13 positive regulation of leukocyte migration GO:0002687 9.8 SELP ITGB3 ITGA2
14 regulation of body fluid levels GO:0050878 9.54 F5 F2
15 blood coagulation GO:0007596 9.53 ITGB3 ITGA2 GP9 GP1BA F5 F3
16 hemostasis GO:0007599 9.35 GP9 GP1BA F5 F3 F2

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

# Name GO ID Score Top Affiliating Genes
1 thrombospondin receptor activity GO:0070053 9.46 F2 CD36
2 extracellular matrix binding GO:0050840 9.43 VTN ITGB3 ITGA2B
3 integrin binding GO:0005178 9.32 VTN PTK2 ITGB3 ITGA2B ITGA2

Sources for Thrombasthenia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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