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Article

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

PLoS medicine - 1 Oct 2006

Venables Julian P, Strain Lisa, Routledge Danny, Bourn David, Powell Helen M, Warwicker Paul, Diaz-Torres Martha L, Sampson Anne, Mead Paul, Webb Michelle, Pirson Yves, Jackson Michael S, Hughes Anne, Wood Katrina M, Goodship Judith A, Goodship Timothy H J

Abstract excerpt

BACKGROUND: Sequence analysis of the regulators of complement activation (RCA) cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplications have resulted in a high degree of sequence identity between the gene for factor H (CFH) and the genes for the five factor H-related proteins (CFHL1-5; aliases CFHR1-5). CFH mutations have been described in association...

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Share to Complement C3b Inactivator Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17076561
DOI: 10.1371/journal.pmed.0030431
PMCID: PMC1626556

Genes

CFH
CFHR1

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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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.PMID 17076561Read ↗

A Novel Atypical Hemolytic Uremic Syndrome–Associated Hybrid CFHR1/CFH Gene Encoding a Fusion Protein That Antagonizes Factor H–Dependent Complement RegulationSemantic proximity Read ↗

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.Semantic proximity Read ↗

A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndromeSemantic proximity Read ↗

CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.Semantic proximity Read ↗

CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcomeSemantic proximity Read ↗

Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.Semantic proximity Read ↗

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H bindingSemantic proximity Read ↗

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Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics.Semantic proximity Read ↗

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