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

Kidney international - 1 Mar 2007

Wolf M T F, Beck B B, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F

Abstract excerpt

Autosomal dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. This disorder was described to have an age of onset between the age of 20-30 years or even later. Mutations in the Uromodulin (UMOD) gene were published in patients with familial juvenile hyperuricemic...

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Source

Identifiers

PMID: 17245395
DOI: 10.1038/sj.ki.5002089

Genes

UMOD

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.

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The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.PMID 17245395Read ↗

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

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

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 ↗

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

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

Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.Semantic proximity Read ↗

A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

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

Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.Semantic proximity Read ↗

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.Semantic proximity Read ↗

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.Semantic proximity Read ↗

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