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Article

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

Journal of medical genetics - 1 Dec 2002

Hart T C, Gorry M C, Hart P S, Woodard A S, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada M M, Bleyer A J

Abstract excerpt

INTRODUCTION: Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often definitive diagnosis is possible only after significant pathology has occurred. Genetic linkage...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperuricemia

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Share to Physical Chromosome Mapping

Share to Polycystic Kidney, Autosomal Dominant

Share to Renal Insufficiency

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Source

Open in PubMed Open full text

Identifiers

PMID: 12471200
DOI: 10.1136/jmg.39.12.882
PMCID: PMC1757206

Genes

UMOD
GPI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.PMID 12471200Read ↗

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.Semantic proximity Read ↗

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.Semantic proximity Read ↗

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.Semantic proximity Read ↗

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.Semantic proximity Read ↗

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.Semantic proximity Read ↗

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.Semantic proximity Read ↗

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.Semantic proximity Read ↗

A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.Semantic proximity Read ↗

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

UMOD and the architecture of kidney diseaseSemantic proximity Read ↗

The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease.Semantic proximity Read ↗

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).Semantic proximity Read ↗

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