LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
Disease: Donnai-Barrow syndrome ×
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