ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 215; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. 24498605 2013
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 21454453 2011
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease MGD Thrombasthenic mice generated by replacement of the integrin alpha(IIb) gene: demonstration that transcriptional activation of this megakaryocytic locus precedes lineage commitment. 10942384 2000
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 CausalMutation disease CLINVAR
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease CTD_human
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 AlteredExpression disease BEFREE We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and the relationship between genotype and clinical phenotype. 31088191 2020
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease BEFREE In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia. 29385657 2018
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease BEFREE We diagnosed a pathogenic Glanzmann thrombasthenia mutation in ITGA2B screened by DHPLC that appears to be specific to individuals of Tunisian heritage and that deserves to be investigated in first intention. 30325339 2018
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease BEFREE As expected, MC and FFC revealed that GT platelets had significantly reduced CD41, CD61, and activated integrin αIIbβ3 surface expression. 29985398 2018
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 AlteredExpression disease BEFREE Type I GT was found most common in our patients and with lowered mean CD41 expression in comparison with CD61. 28948953 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease BEFREE This study reported three novel mutations expanding the genotypic spectrum of ITGA2B causing GT. 28888044 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease BEFREE : Quantitative and/or qualitative defects of the platelet membrane glycoprotein IIb/IIIa complex lead to the clinical entity of Glanzmann's thrombasthenia. 29084015 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 AlteredExpression disease BEFREE Forty children with GT were assessed for the expression of GPIIb-IIIa on the platelet surface and platelet antibodies by using flow cytometry, to determine the most common GT subtypes among Egyptian children. 28161816 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 AlteredExpression disease BEFREE Moreover, exogenous expression of the wild-type ITGA2B gene in GT-iPS platelets restored CD41 expression and normal platelet aggregation. 28232155 2017
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease BEFREE A series of haplogroups, often including HPA-3b in ITGA2B, repeated with little variation across unrelated families of wide geographical origins and with different GT-causing mutations whether in ITGA2B or ITGB3. 27469266 2016
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 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 		0.800 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 		0.800 GeneticVariation disease BEFREE Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia. 25734216 2015
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease BEFREE We now report a Catalan family where type I GT is given by compound heterozygosity within ITGA2B with a Gly13Val substitution in αIIb associated with a 13 bp deletion involving the splice site of exon 15. 22394243 2013
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease GENOMICS_ENGLAND One patient, who showed Glanzmann thrombasthenia-like marked reduction in surface αIIbβ3 expression (3-11% of normal control), was a compound heterozygote with ITGA2B p.Gly991Cys and a novel nonsense mutation, ITGA2B p.Arg422*. 24498605 2013
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease CLINVAR Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. 22190468 2012
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease BEFREE Antibody screening was performed on a large series of 24 GT patients in South-West France dividing the patients into two cohorts: (i) 16 patients with the French gypsy mutation (c.1544 + 1G>A) within ITGA2B that gives platelets totally lacking αIIbβ3 and (ii) 8 patients carrying other defects of ITGA2B or ITGB3 with different expression levels of αIIbβ3. 22250950 2012
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease BEFREE Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. 22190468 2012