Gene: NPHS1

Alternate names for this Gene: CNF|NPHN|nephrin

Gene Summary: This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: NPHS1 adhesion molecule, nephrin

Type of Gene: protein-coding

rs1244884053 in NPHS1 gene and Finnish congenital nephrotic syndrome PMID 26668027 2016 Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

PMID 19812541 2009 Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

PMID 20507940 2010 Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

PMID 11854170 2002 Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

PMID 9915943 1999 Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

PMID 9660941 1998 Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

PMID 20172850 2010 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

PMID 10972661 2000 Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.

PMID 17290294 2007 A familial childhood-onset relapsing nephrotic syndrome.

PMID 22565185 2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

PMID 24902943 2014 Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.

PMID 22732337 2012 Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

PMID 26560236 2016 NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.

PMID 24742477 2014 Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

PMID 25804400 2015 SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

PMID 18614772 2008 Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

PMID 11726550 2001 Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

PMID 27019444 2016 Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.

PMID 10652016 2000 Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

PMID 18503012 2008 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

PMID 21415313 2011 Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

PMID 11317351 2001 Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

PMID 20798252 2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PMID 22009864 2011 Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

PMID 24142548 2014 Functional analysis of NPHS1 mutations in Japanese patients.

PMID 17371932 2007 Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

PMID 15338398 2004 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

PMID 19321760 2009 NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.

PMID 24498843 2013 NPHS1 gene mutations in children with Nephrotic Syndrome in northwest Iran.

PMID 23949594 2013 Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.

PMID 28117080 2017 Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

PMID 11562357 2001 Interaction with podocin facilitates nephrin signaling.

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 14570703 2003 Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.

PMID 16518627 2006 Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.

PMID 15213260 2004 Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.

PMID 19194555 2009 Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.

PMID 15780077 2005 Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.

PMID 22584503 2012 Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

PMID 15906409 2005 Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.

PMID 24303155 2013 Nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions.

PMID 29474669 2019 Treatment and outcome of congenital nephrotic syndrome.

PMID 19406966 2009 Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.

PMID 10577936 1999 Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19423745 2009 Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss.

PMID 28204945 2017 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

PMID 22099579 2011 Genetic basis of congenital and infantile nephrotic syndromes.

PMID 28392951 2017 Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.

PMID 16316524 2005 [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].

PMID 25729976 2015 Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.

PMID 25501161 2014 Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.

rs114896482 in NPHS1 gene and NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE PMID 15086927 2004 Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).

rs267606919 in NPHS1 gene and Nephrotic Syndrome PMID 16518627 2006 Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.

PMID 18503012 2008 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

PMID 11854170 2002 Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.