CFHR5 nephropathy

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:affectsOrgan gptkb:kidney
gptkbp:alsoKnownAs Cypriot nephropathy
gptkbp:associatedWith complement pathway dysregulation
gptkbp:canProgressTo chronic kidney disease
end-stage renal disease
gptkbp:characterizedBy hematuria
proteinuria
progressive renal failure
gptkbp:diagnosedBy genetic testing
renal biopsy
gptkbp:firstDescribed 2009
https://www.w3.org/2000/01/rdf-schema#label CFHR5 nephropathy
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:CFHR5_gene
gptkbp:OMIM 608901
gptkbp:prevalence Cypriot population
gptkbp:symptom macroscopic hematuria
microscopic hematuria
gptkbp:treatment renal transplantation
supportive therapy
gptkbp:bfsParent gptkb:CFHR5
gptkbp:bfsLayer 8