BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Microphthalmia, syndromic 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Pathogenic variants in the BCOR gene have been identified in males with X-linked recessive microphthalmia and in females with X-linked dominant oculofaciocardiodental (OFCD) syndrome. 31048080 2020
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia ('Lenz'-type) syndrome affecting males. 29974297 2019
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome. 30267259 2019
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Comparative expression profiling of PDL cells isolated from normal and OFCD patients revealed significant downregulation of SMAD4, GLI1, and nuclear factor 1-C (NFIC) mRNA expression, suggesting that BCOR mutations cause hyperactive root formation in OFCD syndrome by inhibiting SMAD4-Hedgehog-NFIC signaling implicated in dental root development. 30396568 2018
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 Biomarker disease BEFREE With the notable exception of WNT10A (Tooth agenesis, selective, 4, MIM #150400), the genotype-phenotype relationships described in the present cohort represent an expansion of the clinical spectrum associated with these genes: TSPEAR (Deafness, autosomal recessive 98, MIM #614861), LAMB3 (Amelogenesis imperfecta, type IA, MIM #104530; Epidermolysis bullosa, junctional, MIMs #226700 and #226650), and BCOR (Microphthalmia, syndromic 2, MIM #300166). 30046887 2018
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report. 30544426 2018
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. 29058245 2018
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome. 26196063 2015
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Mutations in the BCL-6 corepressor (BCOR) gene, which encodes a transcriptional corepressor, were described to cause oculofaciocardiodental syndrome (MIM 300166). 26054978 2015
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Mutations in BCOR have been described as causal in OFCD syndrome. 24694763 2014
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE BCOR mutations cause oculofaciocardiodental syndrome, a Mendelian disease involving multiple dental anomalies. 23470693 2013
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Mutations in BCOR (Bcl6 corepressor) are found in patients with oculo-facio-cardio-dental (OFCD) syndrome, a congenital disorder affecting visual system development, and loss-of-function studies in zebrafish and Xenopus demonstrate a role for Bcor during normal optic cup development in preventing colobomata. 23669349 2013
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE Considering the presence of bilateral 2nd-3rd toe syndactyly and septal heart defects, which is unique to OFCD, the mutation in BCOR is likely to be the major determinant for the phenotypes in this family. 22301464 2012
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene. 22983184 2012
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GermlineCausalMutation disease ORPHANET A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. 22301464 2012
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE BCOR mutation is responsible for oculo-facio-cardio-dental (OFCD) syndrome, which is characterized by canine teeth with extremely long roots, congenital cataracts, craniofacial defects and congenital heart disease. 19578371 2009
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease BEFREE To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. 19367324 2009
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 CausalMutation disease CLINVAR BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 19367324 2009
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 Biomarker disease CTD_human To study the function of BCOR, we used morpholino oligonucleotides (MOs) to knockdown expression of xtBcor in Xenopus tropicalis, thus creating an animal model for OFCD syndrome. 17517692 2007
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 Biomarker disease GENOMICS_ENGLAND To study the function of BCOR, we used morpholino oligonucleotides (MOs) to knockdown expression of xtBcor in Xenopus tropicalis, thus creating an animal model for OFCD syndrome. 17517692 2007
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 AlteredExpression disease BEFREE To study the function of BCOR, we used morpholino oligonucleotides (MOs) to knockdown expression of xtBcor in Xenopus tropicalis, thus creating an animal model for OFCD syndrome. 17517692 2007
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GermlineCausalMutation disease ORPHANET Our data confirm that BCOR is the causative gene for OFCD syndrome; however, the failure to identify any mutation in patients with Lenz microphthalmia syndrome together with the oligosymptomatic phenotype in the reported MAA2 patients suggest that BCOR is not the major gene for this syndrome. 15770227 2005
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 Biomarker disease BEFREE Our data confirm that BCOR is the causative gene for OFCD syndrome; however, the failure to identify any mutation in patients with Lenz microphthalmia syndrome together with the oligosymptomatic phenotype in the reported MAA2 patients suggest that BCOR is not the major gene for this syndrome. 15770227 2005
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 Biomarker disease GENOMICS_ENGLAND Our data confirm that BCOR is the causative gene for OFCD syndrome; however, the failure to identify any mutation in patients with Lenz microphthalmia syndrome together with the oligosymptomatic phenotype in the reported MAA2 patients suggest that BCOR is not the major gene for this syndrome. 15770227 2005
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		0.800 GeneticVariation disease UNIPROT Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. 15004558 2004