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Article

Evidence for further genetic heterogeneity in nephronophthisis.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2001

Omran H, Häffner K, Burth S, Ala-Mello S, Antignac C, Hildebrandt F

Abstract excerpt

BACKGROUND: A new type of nephronophthisis (NPH) has been recently identified in a large Venezuelan kindred: adolescent nephronophthisis (NPH3) causes end-stage renal disease (ESRD) at a median age of 19 years. The responsible gene (NPHP3) maps to 3q21-q22. NPH3 shares with juvenile nephronophthisis (NPH1) the same disease manifestations such as polyuria, polydipsia, and secondary enuresis. Histopathological...

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Share to Adaptor Proteins, Signal Transducing
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Linkage

Share to Kidney Diseases, Cystic

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Source

Identifiers

PMID: 11274269
DOI: 10.1093/ndt/16.4.755

Genes

NPHP3
NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for further genetic heterogeneity in nephronophthisis.PMID 11274269Read ↗

Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.Semantic proximity Read ↗

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.Semantic proximity Read ↗

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adultsSemantic proximity Read ↗

Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening.Semantic proximity Read ↗

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan PedigreeSemantic proximity Read ↗

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Semantic proximity Read ↗

Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.Semantic proximity Read ↗

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.Semantic proximity Read ↗

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.Semantic proximity Read ↗

Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.Semantic proximity Read ↗

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.Semantic proximity Read ↗

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.Semantic proximity Read ↗

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