Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: C3GN.
|
27458560 |
2016 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations.
|
26915021 |
2016 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
Biomarker
|
disease |
BEFREE |
Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
|
24334459 |
2014 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dense deposit disease (DDD) is a rare renal disease related to the dysregulation of the alternative pathway of the complement cascade, caused by several factors including the presence of an autoantibody to C3 nephritic factor, mutations in factor H and autoantibodies to this protein.
|
24338037 |
2014 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II.
|
22388616 |
2012 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CFH I890 and L1007 are two genetic variations repeatedly associated with atypical hemolytic uremic syndrome and also found in patients with dense deposit disease and age-related macular degeneration.
|
21881555 |
2012 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The complement factor H Y402H variant was significantly increased in dense deposit disease.
|
22456601 |
2012 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II.
|
22388616 |
2012 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration.
|
21270465 |
2011 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
Biomarker
|
disease |
BEFREE |
Abnormalities in factor H have been rarely described in patients with membranoproliferative glomerulonephritis type II.
|
21396679 |
2011 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
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 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations and SNPs (single nucleotide polymorphisms) in Factor H have been implicated in a variety of human conditions including age-related macular degeneration (AMD), atypical hemolytic uremic syndrome, and membranoproliferative glomuleronephritis type II or dense deposit disease.
|
20385334 |
2010 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Complement factor H (CFH) is a key regulator of the alternative pathway of complement and its mutations have been associated with membranoproliferative glomerulonephritis type II, atypical hemolytic uremic syndrome and age-related macular degeneration (AMD), suggesting that alternative pathway dysregulation is a common pathogenetic feature of these ocular and renal conditions.
|
18340363 |
2008 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dense deposit disease and the factor H H402 allele.
|
18224273 |
2008 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
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 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protective for age-related macular degeneration and dense deposit disease) causes rearrangements within the module 1 core and increases thermal stability but does not disturb the interface with module 2.
|
18252712 |
2008 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Haplotype mapping has shown at-risk phenotypes of complement factor H associated with the development of dense deposit disease.
|
17420663 |
2007 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
Biomarker
|
disease |
BEFREE |
We show that these mice, transgenically expressing a mouse FH protein functionally equivalent to aHUS-associated human FH mutants, regulate C3 activation in plasma and spontaneously develop aHUS but not MPGN2.
|
17517971 |
2007 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
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 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
Biomarker
|
disease |
BEFREE |
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).
|
16612335 |
2006 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
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 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion.
|
12466119 |
2002 |
Membranoproliferative Glomerulonephritis, Type II
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, matings of certain Yorkshire pigs result in offspring that are homozygous deficient in factor H and have a high incidence of a severe hypocomplementemic glomerulonephritis closely resembling membranoproliferative glomerulonephritis type II.
|
7985676 |
1994 |