ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. 31088191 2020
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Sanger sequencing of DNA from the propositus identified 2 heterozygous ITGB3 gene mutations: p.P189S and p.C210S both of which prevent αIIbβ3 expression and are causative of GT but without explaining the presence of enlarged platelets. 31565851 2019
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE In contrast to the inherited platelet disorder given by mutations in the ITGA2B and ITGB3 genes, mucocutaneous bleeding from a spontaneous inhibition of normally expressed αIIbβ3 characterizes acquired Glanzmann thrombasthenia (GT). 31010659 2019
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker disease BEFREE Sanger sequencing of ITGA2B and ITGB3 in the index case followed by in silico modeling of all known GT-causing missense mutations extending from the lower part of the β-propeller, and through the thigh and upper calf-1 domains. 29385657 2018
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 AlteredExpression disease BEFREE We developed a panel of 14 platelet-specific metal-tagged antibodies (targeting cluster of differentiation [CD] 9, CD29, CD31, CD36, CD41, CD42a, CD42b, CD61, CD62P, CD63, CD107a, CD154, glycoprotein [GP] VI and activated integrin αIIbβ3) and compared this panel with two fluorescence flow cytometry (FFC) panels (CD41, CD42b, and CD61; or CD42b, CD62P, and activated integrin αIIbβ3) in the evaluation of activation-dependent changes in glycoprotein expression on healthy subject and Glanzmann thrombasthenia (GT) platelets. 29985398 2018
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease UNIPROT Furthermore, it suggested ITGB3 as the mainly affected gene impaired in the patients with Glanzmann's thrombasthenia. 29084015 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker disease BEFREE Furthermore, it suggested ITGB3 as the mainly affected gene impaired in the patients with Glanzmann's thrombasthenia. 29084015 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker disease BEFREE Twenty four (47%) patients of GT were classified as type I (as CD41/CD61 were virtually absent, <5%), six (11.8%) patients as type II (5-20% CD41/CD61) and 21 (41.2%) as type III or GT variants as they had near normal levels of CD41 and CD61. 28948953 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE In addition to mutations in ITG2B or ITGB3 genes that cause defective αIIbβ3 expression and/or function in Glanzmann's thrombasthenia patients, platelet dysfunction can be a result of genetic variability in proteins that mediate inside-out activation of αIIbβ3 The RASGRP2 gene is strongly expressed in platelets and neutrophils, where its encoded protein CalDAG-GEFI facilitates the activation of Rap1 and subsequent activation of integrins. 27235135 2016
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. 27469266 2016
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Mutations in the ITGA2B or ITGB3 genes that encode for the αIIbβ3 platelet integrin usually cause Glanzmann thrombasthenia, a severe autosomal recessive bleeding disorder characterized by absence of platelet aggregation, but normal platelet number and size. 25806962 2015
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. 25728920 2015
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Homozygous or compound heterozygous mutations in ITGA2B or ITGB3 were identified as causing GT by sequencing of genomic DNA. 25373348 2015
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker disease CLINGEN Mutations in ITGA2B and ITGB3 cause Glanzmann thrombasthenia, an inherited bleeding disorder in which platelets fail to aggregate when stimulated. 24236036 2013
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Mutations in ITGA2B and ITGB3 cause Glanzmann thrombasthenia, an inherited bleeding disorder in which platelets fail to aggregate when stimulated. 24236036 2013
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Although from a limited number of patients, these results suggests c.1913+5G>T of ITGB3 is a recurrent mutation in Korean patients with GT. 22190468 2012
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GermlineCausalMutation disease ORPHANET Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, αIIbβ3, an integrin coded by the ITGA2B and ITGB3 genes. 21917754 2011
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Glanzmann thrombasthenia (GT) is the most widely studied inherited disorder of platelets; it is caused by the absence of platelet aggregation due to quantitative and/or qualitative deficiencies of the αIIbβ3 integrin coded by the ITGA2B and ITGB3 genes located at 17q21-23. 22102273 2011
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? 21557682 2011
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker disease GENOMICS_ENGLAND AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Glanzmann thrombasthenia (GT) is an autosomal recessive inherited bleeding disorder characterized by an impaired platelet aggregation due to defects in integrin alphaIIbbeta3 (ITGA2B, ITGB3), a fibrinogen receptor. 20020534 2010
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker disease CLINGEN AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease UNIPROT AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 GeneticVariation disease BEFREE Homozygous or compound heterozygous mutations in the genes of GPIIb and GPIIIa lead to GT. 18930954 2009
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
1.000 Biomarker disease BEFREE Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. 19691478 2009