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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group MGD
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group 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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group LHGDN Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 CausalMutation group CLINVAR Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group BEFREE Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group BEFREE Fifteen episodes of recurrent nephrotic syndrome occurred in 13 (25%) of 51 grafts transplanted to 45 Finnish children with NPHS1. 11884936 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group LHGDN A missense mutation in the nephrin gene impairs membrane targeting. 12324903 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group LHGDN Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. 12495287 2003
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group LHGDN Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome. 12961083 2003
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group BEFREE Nephrotic syndrome (NS) in infancy includes NS of Finnish type (mutation of the nephrin gene), diffuse mesangial sclerosis (idiopathic or linked to WT1 mutation), idiopathic NS, most often steroid resistant, and NS related to infections during pregnancy (virus, syphilis, toxoplasmosis). 15682315 2005
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Therapeutic group RGD Glomerular abundance of nephrin and podocin in experimental nephrotic syndrome: different effects of antiproteinuric therapies. 15942045 2005
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group BEFREE Because of its prognostic relevance, we advocate molecular genetic testing of LAMB2 in any case of prenatally detected nephrotic syndrome with negative results of NPHS1 mutational screening, especially in the presence of the typical sonomorphologic findings of the kidneys and the development of oligohydramnios. 16450351 2006
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 CausalMutation group CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group LHGDN Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. 16968734 2006
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group LHGDN The results demonstrate that NPHS1 and NPHS2 mutations are also present in Chinese sporadic NS patients, suggesting that genetic changes of nephrin and podocin may play pathogenetic roles in some patients with sporadic steroid resistant NS. 17211152 2007
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group BEFREE Mutational analyses of NPHS1 and NPHS2 were performed to verify this hypothesis in sporadic nephrotic syndrome (NS) patients. 17211152 2007
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group LHGDN A familial childhood-onset relapsing nephrotic syndrome. 17290294 2007
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group BEFREE NPHS2 mutations were the most frequent cause of nephrotic syndrome among both families with congenital nephrotic syndrome (39.1%) and infantile nephrotic syndrome (35.3%), whereas NPHS1 mutations were solely found in patients with congenital onset. 17371932 2007
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group BEFREE The NPHS1 kidneys do not express nephrin, and antibodies against this major glomerular filter protein have been observed in NPHS1 children with recurrent NS. 17519780 2007
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 CausalMutation group CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group LHGDN Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group BEFREE Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 19406966 2009
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group BEFREE Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients. 22565185 2012
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 GeneticVariation group BEFREE To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1). 23595123 2013