LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 Biomarker disease BEFREE Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome). 29388841 2018
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease BEFREE Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. 25682901 2015
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease BEFREE In man, mutations of the megalin-encoding gene causes the rare Donnai-Barrow/Facio-Oculo-Acoustico-Renal Syndrome, which is partially characterized by high-grade myopia. 24980834 2014
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease BEFREE Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features. 23992033 2014
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 Biomarker disease MGD Mutation of megalin leads to urinary loss of selenoprotein P and selenium deficiency in serum, liver, kidneys and brain. 20653565 2010
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease BEFREE Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 18553518 2008
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 18553518 2008
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease CLINVAR By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. 17632512 2007
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease BEFREE By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. 17632512 2007
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. 17632512 2007
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease UNIPROT By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. 17632512 2007
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 GeneticVariation disease CLINVAR Donnai-Barrow syndrome: four additional patients. 12923867 2003
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 CausalMutation disease CLINVAR
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		0.960 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE In this study, a hemizygous c.786C>G:p.Ile262Met in the testis specific protein Y-encoded-like 2 (TSPYL2) gene and a homozygous c.11335G>A:p.Asp3779Asn in the low-density lipoprotein receptor-related protein 2 (LRP2) gene were detected after genome-wide genotyping and exome sequencing in a consanguineous Pakistani family with two boys with mild ID. 26529358 2016
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 GeneticVariation disease BEFREE Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features. 23992033 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker disease CTD_human Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 17632512 2007
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.330 Biomarker group BEFREE Particularly in older patients with immune complex-mediated TIN who lack clinical, laboratory, radiographic, and/or characteristic histologic features of IgG4-TIN or other autoimmune, infectious, or drug-related injury, a diagnosis of anti-LRP2 nephropathy should be considered. 30876746 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.330 AlteredExpression group BEFREE Megalin is essential for proximal tubule reabsorption of filtered proteins, hormones, and vitamins, and its dysfunction has been reported in IgA nephropathy (IgAN). miR-148b has been shown to regulate renal megalin expression <i>in vitro</i> and in animal models of kidney disease. 30355654 2018
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.330 GeneticVariation disease BEFREE Haplotypes of GC and LRP2 genes shown significant associations with 25(OH)D levels among pregnant women, respectively. 29153269 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.330 GeneticVariation group BEFREE Exome sequencing data from 529 blacks with type 2 diabetes (T2D) -associated ESRD and 535 controls lacking T2D or nephropathy (the Type 2 Diabetes Genes [T2D-GENES] Consortium) were first evaluated, focusing on coding variants in CUBN and LRP2; 15 potentially associated SNPs identified from the T2D-GENES Consortium as well as 51 other selected SNPs were then assessed in an independent T2D-ESRD sample set of blacks (the Affymetrix Axiom Biobank Genotyping Array [AXIOM]; 2041 patients with T2D-ESRD, 627 patients with T2D without nephropathy, and 1140 nondiabetic, non-nephropathy controls). 27197912 2016