LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		0.740 GeneticVariation disease BEFREE To further investigate the role of LRP4 in the bone formation process, we generated an Lrp4 mutated sclerosteosis mouse model by introducing the p.Arg1170Gln mutation in the mouse genome. 28477420 2017
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		0.740 AlteredExpression disease BEFREE In addition, to better understand the biology of LRP4, we investigated the circulating sclerostin levels in the serum of a patient suffering from sclerosteosis owing to a LRP4 mutation. 26751728 2016
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		0.740 GeneticVariation disease BEFREE Recently, two mutations in LRP4 gene underlying sclerosteosis were identified, reflecting the genetic heterogeneity of this disease. 24594238 2014
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		0.740 GermlineCausalMutation disease ORPHANET Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. 21471202 2011
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		0.740 Biomarker disease MGD
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		0.740 Biomarker disease CTD_human
CUI: C4225377
Disease: MYASTHENIC SYNDROME, CONGENITAL, 17
MYASTHENIC SYNDROME, CONGENITAL, 17 		0.600 Biomarker disease GENOMICS_ENGLAND Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia. 26052878 2015
CUI: C4225377
Disease: MYASTHENIC SYNDROME, CONGENITAL, 17
MYASTHENIC SYNDROME, CONGENITAL, 17 		0.600 GeneticVariation disease UNIPROT LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 24234652 2014
CUI: C4225377
Disease: MYASTHENIC SYNDROME, CONGENITAL, 17
MYASTHENIC SYNDROME, CONGENITAL, 17 		0.600 CausalMutation disease CLINVAR
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 Biomarker disease GENOMICS_ENGLAND Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia. 26052878 2015
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 Biomarker disease BEFREE By contrast, mutations in lipoprotein-like receptor 4 (LRP4), a long-time candidate gene for congenital myasthenia, and a novel phenotype of myasthenia with distal weakness and atrophy due to mutations in AGRN have now been described. 25305004 2014
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 Biomarker disease BEFREE We conclude that LRP4 is a new CMS disease gene and that the 3rd beta propeller domain of LRP4 mediates the two signaling pathways in a position-specific manner. 24234652 2014
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.520 Biomarker disease CTD_human
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.500 GermlineCausalMutation disease ORPHANET LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 24234652 2014
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.500 Biomarker disease CTD_human
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 GeneticVariation disease BEFREE Our study broadens the pathogenic spectrum of LRP4 gene in syndactyly syndromes. 31750994 2020
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 GeneticVariation disease BEFREE This recessive mutation in LRP4 confirmed the diagnosis of CLS syndrome in two patients present with isolated hand syndactyly. 30041615 2018
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 Biomarker disease BEFREE In contrast, the syndactyly of SOST2 is particularly striking by involving bony fusion of some digits. 30077757 2018
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 GeneticVariation disease BEFREE Variants in LRP4 have been previously associated with syndactyly in Cenani-Lenz syndactyly syndrome and Sclerosteosis 2, but have not been reported in individuals with isolated syndactyly. 29524275 2018
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 GeneticVariation disease BEFREE In contrast to the human sclerosteosis phenotype, we could not observe syndactyly in the forelimbs or hindlimbs of the Lrp4 KI animals. 28477420 2017
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 GeneticVariation disease BEFREE These findings confirm that autosomal recessive loss-of-function mutations in Megf7/Lrp4 result in phenotypically similar forms of syndactyly in different mammalian species and that such mutations are the cause of MFD in bovines. 16963222 2006
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 Biomarker disease CTD_human Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice. 16207730 2005
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.460 Biomarker disease HPO
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.300 Biomarker group CTD_human Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice. 16207730 2005
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly 		0.300 Biomarker disease CTD_human Homozygous Megf7-deficient mice are growth-retarded, with fully penetrant polysyndactyly in their fore and hind limbs, and partially penetrant abnormalities of tooth development. 16207730 2005