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Article

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.

Human genetics - 1 Jan 2011

Piret Sian E, Danoy Patrick, Dahan Karin, Reed Anita A C, Pryce Karena, Wong William, Torres Rosa J, Puig Juan G, Müller Thomas, Kotanko Peter, Lhotta Karl, Devuyst Olivier, Brown Matthew A, Thakker Rajesh V

Abstract excerpt

Familial juvenile hyperuricaemic (gouty) nephropathy (FJHN), is an autosomal dominant disease associated with a reduced fractional excretion of urate, and progressive renal failure. FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta (HNF-1β) on chromosomes 16p12, 1q32.1, and 17q12, respectively. However, UMOD, REN or HNF-1β...

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Share to Chromosomes, Human, Pair 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20976470
DOI: 10.1007/s00439-010-0897-1

Genes

REN
UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.PMID 20976470Read ↗

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