LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Disease: HEM dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 Biomarker disease GENOMICS_ENGLAND Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease CLINVAR 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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease CLINVAR Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. 27830109 2016
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease UNIPROT 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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease BEFREE Thus, in addition to Greenberg dysplasia (a perinatal lethal disorder), homozygosity or compound heterozygosity of mutations in LBR can result in a mild, spontaneously regressing bone dysplasia. 25348816 2015
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease UNIPROT It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia. 21327084 2012
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GermlineCausalMutation disease ORPHANET It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia. 21327084 2012
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease BEFREE It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia. 21327084 2012
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease CLINVAR It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia. 21327084 2012
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease CLINVAR Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. 18382993 2008
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 Biomarker disease BEFREE It previously has been proposed that LBR is the primary sterol Delta(14)-reductase and that HEM dysplasia and ichthyosis are inborn errors of cholesterol synthesis. 17403717 2007
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease BEFREE LBR was indicated as the primary 3beta-hydroxysterol Delta(14)-reductase in human cholesterol biosynthesis, since mutations in LBR gene were found in Greenberg skeletal dysplasia, characterized by accumulation of Delta(14)-unsaturated sterols. 16784888 2006
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 Biomarker disease GENOMICS_ENGLAND Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. 12618959 2003
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease BEFREE Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. 12618959 2003
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 GeneticVariation disease UNIPROT Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. 12618959 2003
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 Biomarker disease GENOMICS_ENGLAND Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. 8213919 1993
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 Biomarker disease CTD_human
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 CausalMutation disease CLINVAR