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 |
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 |
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 |
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 |
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Donnai-Barrow syndrome: four additional patients.
|
12923867 |
2003 |
Donnai-Barrow syndrome
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
Intellectual Disability
|
0.410 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
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 |
Sensorineural Hearing Loss (disorder)
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Intellectual Disability
|
0.410 |
Biomarker
|
group |
HPO |
|
|
|
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 |
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 |
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 |
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 |