LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE LBR is also associated with the autosomal recessive anadysplasia-like spondylometaphyseal dysplasia, and the autosomal dominant Pelger-Huët anomaly, a benign laminopathy characterized by anomalies in the nuclear shape of blood granulocytes. 30561119 2019
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE Pathogenic variants in LBR are associated with marked phenotypic variability, ranging from the benign Pelger-Huët anomaly to lethal Greenberg Dysplasia. 30448303 2019
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE Hyposegmentation can be due to mutations in the LBR-gene (Pelger-Huët-Anomaly) or can be induced, for example, by colchicine treatment. 27684937 2017
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE Mutations within the transmembrane segments result in defects in cholesterol synthesis and are associated with diseases such as the Pelger-Huët anomaly and Greenberg skeletal dysplasia, whereas no such harmful mutations related to the anchoring properties of LBR have been reported so far. 28858257 2017
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 PosttranslationalModification disease BEFREE Therefore, P. entomophila can be used to synthesize the whole range of PHA (C7-C14) homopolymers, random- and block copolymers. 28128887 2017
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 Biomarker disease BEFREE LBR mutant derivatives implicated in Greenberg skeletal dysplasia or Pelger-Huët anomaly fail to rescue the cholesterol auxotrophy of a LBR-deficient human cell line, consistent with a loss-of-function mechanism for these congenital disorders. 27336722 2016
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE Mutations in the LBR gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, Pelger-Huet anomaly (PHA) and Greenberg skeletal dysplasia. 23824842 2013
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 Biomarker disease GENOMICS_ENGLAND Mutations in the LBR gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, Pelger-Huet anomaly (PHA) and Greenberg skeletal dysplasia. 23824842 2013
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 Biomarker disease BEFREE In humans, a genetic deficiency of LBR produces Pelger-Huët anomaly, resulting in blood neutrophils that exhibit hypolobulated nuclei with redistributed heterochromatin. 21327094 2012
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 Biomarker disease BEFREE This review summarizes the history of PHA and the current knowledge of the functions of the LBR. 22338047 2012
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 AlteredExpression disease BEFREE In the present study, we have investigated the hypothesis that the NM irregularities in PTC might be linked to alterations in the expression of lamin B receptor (LBR), a component of the inner NM responsible for the distribution of Lamin B and associated chromatin.Fisher AH et al. already reported on the lack of LBR in PTC, a finding in contrast with the observation that a reduced expression of LBR because of gene mutation is responsible for the lack of nuclear segmentation of granulocytes in Pelger-Huët anomaly. 21103616 2010
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE Mutations in LBR result in Pelger-Huët anomaly and HEM-Greenberg skeletal dysplasia, whereas in mice Lbr mutations result in ichthyosis. 18621876 2008
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 Biomarker disease MGD HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. 17403717 2007
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE PHA has been recently linked to the gene encoding the lamin B receptor, located at chromosome 1q41-43. 16007606 2006
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease UNIPROT Lamin B-receptor mutations in Pelger-Huët anomaly. 14617022 2003
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE Mutations in LBR recently have been reported also to cause Pelger-Huët anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. 12618959 2003
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE We recently found that human PHA is caused by mutations in the gene (LBR) encoding lamin B receptor, an evolutionarily conserved inner nuclear membrane protein involved in nuclear assembly and chromatin binding. 12490533 2003
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 Biomarker disease BEFREE The LBR gene (LBR) was also sequenced from a single English man with Pelger-Huët anomaly and a heterozygous C-->G mutation was found in codon 569 of exon 14, predicted to cause a proline-->arginine. 14617022 2003
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease LHGDN Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). 12118250 2002
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 GeneticVariation disease BEFREE Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). 12118250 2002
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 CausalMutation disease CLINVAR
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
1.000 Biomarker disease CTD_human
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia
0.800 GeneticVariation disease BEFREE Pathogenic variants in LBR are associated with marked phenotypic variability, ranging from the benign Pelger-Huët anomaly to lethal Greenberg Dysplasia. 30448303 2019
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia
0.800 GeneticVariation disease BEFREE Here, we report on a novel LBR missense variant [c.1379A>G; p.(D460R)], identified by whole exome sequencing and causing Greenberg dysplasia in two fetuses from a consanguineous Moroccan family. 30561119 2019