NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE Mutations or deregulation of NPHS1 are associated with a variety of renal diseases, including the Finnish type congenital nephrotic syndrome. 15579507 2004
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). 25557780 2015
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE We strongly recommend the use of mutation analysis of the NPHS1 gene to confirm the AFP results in prenatal diagnosis of NPHS1. 12047969 2002
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 AlteredExpression disease BEFREE Here we show the characteristic splicing of NPHS1 mRNA in the normal and CNF kidneys and localize nephrin exclusively in the glomerulus and to the filtration slit area by light and immunoelectron microscopy. 10550324 1999
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. 11317351 2001
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE In this study, we correlated the NPHS1 gene mutations to the clinical features and renal findings in 46 Finnish NPHS1 children. 10972661 2000
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is a rare genetic disease caused by mutations in the NPHS1 gene encoding a major podocyte slit-diaphragm protein, nephrin. 16941028 2006
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS). 11854170 2002
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE A subgroup of NTEC known as NTEC-2 produce a variant of CNF (CNF-2) whose gene is located on a plasmid known as Vir. 20060660 2010
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 Biomarker disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the recently discovered nephrin gene, NPHS1 (AF035835). 9915943 1999
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE An individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS and NPHS1 mutations. 30215773 2019
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE Mutations in the NPHS1 gene that encodes nephrin cause congenital nephrotic syndrome (CNS), which is characterized by the loss of the SD and massive proteinuria. 22747997 2012
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE The main objective of this study was to perform the analysis of the NPHS1 gene in patients with congenital nephrotic syndrome in order to determine the molecular cause of the disease. 26560236 2016
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE This study demonstrates that the majority of CNS cases (67%, 8/12 patients) are caused by genetic defects, and the NPHS1 mutation is the most common cause of CNS in Chinese patients. 30594156 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE To date, however, the effect of CNS-associated NPHS1 variants on nephrin phosphorylation remains to be determined, which hampers genotype-phenotype correlations. 30212551 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type (CNF) is due to NPHS1 mutation and is responsible for a variety of urinary protein losses. 19153070 2009
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 Biomarker disease BEFREE Congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) is caused by mutations in the NPHS1 gene. 11884936 2002
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type presenting before the first 3 months of life. 19812541 2009
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE Mutations in the nephrin gene (NPHS1) lead to congenital nephrosis, suggesting that nephrin is essential for the glomerular filtration barrier. 11158218 2001
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type, due to homozygous mutation of NPHS1, is the most common form of congenital nephrotic syndrome. 16703378 2006
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE In addition, 3D organoid glomeruli from a congenital nephrotic syndrome patient with compound heterozygous NPHS1 mutations reveal reduced protein levels of both NEPHRIN and PODOCIN. 30514835 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 Biomarker disease BEFREE Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). 16362719 2006
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth. 9660941 1998
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 Biomarker disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is a genetic disease caused by mutations in a podocyte protein nephrin, which leads to constant heavy proteinuria from birth. 15954901 2005
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.500 GeneticVariation disease BEFREE Mutations in the nephrin gene (NPHS1) are responsible for congenital nephrotic syndrome of the Finnish type (NPHS1). 14764915 2004