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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Dec 2004

Schultheiss Michael, Ruf Rainer G, Mucha Bettina E, Wiggins Roger, Fuchshuber Arno, Lichtenberger Anne, Hildebrandt Friedhelm

Abstract excerpt

Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. In 26% of cases it is caused by recessive mutations in NPHS2 (podocin). Congenital nephrotic syndrome (CNS) is caused by mutations in NPHS1 (nephrin) or NPHS2. In three families mutations in NPHS1 and NPHS2 had been reported to occur together, and these tri-allelic...

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Source

Identifiers

PMID: 15338398
DOI: 10.1007/s00467-004-1629-3

Genes

NPHS1
NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.Semantic proximity Read ↗

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.Semantic proximity Read ↗

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.Semantic proximity Read ↗

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).Semantic proximity Read ↗

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.Semantic proximity Read ↗

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Semantic proximity Read ↗

NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome.Semantic proximity Read ↗

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