Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE We report an uncommon case of familial MPGN type I associated with a new mutation in the complement factor H gene (CFH). 26289290 2015
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE Clinical manifestations arising from CFH gene (CFH) abnormalities include hemolytic uremic syndrome and membranoproliferative glomerulonephritis. 22790979 2012
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE Factor H autoantibodies in membranoproliferative glomerulonephritis. 22721707 2012
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). 22388616 2012
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE This report of factor H-deficient patients emphasizes the diversity of the histologic lesions associated with factor H deficiencies and the role of the alternative pathway in several subtypes of membranoproliferative glomerulonephritis. 21396679 2011
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE We report three hypocomplementemic children with dense deposit disease (n=1) or immune-complex-mediated MPGN type I (n=2), associated with both C3NeF activity and heterozygous mutation of factor H or factor I. 21188423 2011
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. 21270828 2011
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE The patient also had transient autoantibodies to factor H. The findings suggest that aHUS and glomerulopathy resembling membranoproliferative glomerulonephritis may have a common molecular background. 21810760 2011
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE X linked Alport syndrome is characterised by renal failure, hearing loss, lenticonus, and a central and peripheral dot-and-fleck retinopathy. complement factor H (CFH) gene variants are strongly associated with retinal drusen in macular degeneration and mesangiocapillary glomerulonephritis, and this study examines their role in the development of the Alport retinopathy. 19019939 2009
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE In TTP against ADAMTS 13, the vWF cleaving protease and in the DEAP-HUS (Deficient for CFHR1 and CFHR3 proteins and autoantibody positive) group against the major complement regulator Factor H. Autoantibodies in MPGN are termed C3 Nephritic Factor (C3NeF) and are directed against a neoepitope of the complement C3 convertase C3bBb. 19640589 2009
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE Several recent studies have described the association of genetic variations of the complement factor H gene (CFH) with atypical haemolytic uraemic syndrome (aHUS), age-related macular degeneration (AMD) and membranoproliferative glomerulonephritis (MPGN). 18081690 2008
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE Abnormalities in factor H have been associated with renal disease, namely glomerulonephritis with C3 deposition including membranoproliferative glomerulonephritis (MPGN) and the atypical haemolytic uraemic syndrome (aHUS). 18190458 2008
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis. 18336910 2008
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE Translational mini-review series on complement factor H: therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis. 18070148 2008
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease LHGDN Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis. 18336910 2008
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE Mutations in the Factor H gene are associated with severe and diverse diseases including the rare renal disorders hemolytic uremic syndrome (HUS) and membranoproliferative glomerulonephritis (MPGN) also termed dense deposit disease (DDD), as well as the more frequent retinal disease age related macular degeneration (AMD). 19388168 2008
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE Intriguingly, distinct genetic changes in factor H (FH), a key regulator of the alternative pathway, are associated with hemolytic uremic syndrome (HUS), membranoproliferative glomerulonephritis (dense deposit disease), or age-related macular degeneration (AMD). 17548524 2007
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE Mice with targeted deletion of CFH can spontaneously develop MPGN and have increased susceptibility to models of GN. 16919753 2007
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE Additional mutations or polymorphisms within CFH have been associated with membranoproliferative glomerulonephritis (MPGN) and age-related macular degeneration (AMD). 17089378 2007
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE Mutations within factor H are also associated with membranoproliferative glomerulonephritis and age-related macular degeneration. 16575691 2006
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE A homozygous mutation in complement control protein (CCP) domain 10 of factor H was identified in an adult man who first developed membranoproliferative glomerulonephritis and later HUS.C3 levels were very low. 16528247 2006
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease BEFREE Missense mutations in the C-terminal region of Factor H are associated with atypical hemolytic uremic syndrome, whereas homozygous Factor H deficiency is more frequently associated with membranoproliferative glomerulonephritis type II (MPGN II).The report of Licht et al. of a mutation in the complement-regulatory N-terminal region of Factor H in MPGN II provides additional insight into the pathogenesis of this condition. 16810287 2006
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease BEFREE We report a novel pathomechanism for membranoproliferative glomerulonephritis type II (MPGN II) caused by a mutant Factor H protein expressed in the plasma. 16612335 2006
Glomerulonephritis, Membranoproliferative
0.600 GeneticVariation disease LHGDN Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). 16299065 2006
Glomerulonephritis, Membranoproliferative
0.600 Biomarker disease CTD_human Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182 2004