×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
AlteredExpression
disease
BEFREE
A child with a homozygous CFH deficiency underwent a successful liver-kidney transplantation.CFH levels normalized within days.
27744619
2016
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
Biomarker
disease
GENOMICS_ENGLAND
Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
24722444
2014
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
Biomarker
disease
BEFREE
This study emphasizes that modifiers such as CD46 and FHL-1 may determine the kidney phenotype of patients who present with homozygous CFH deficiency .
23870792
2013
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
BEFREE
Mutation screening of DNA available from the donor showed a nonsense CFH mutation leading to factor H deficiency .
22420623
2012
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
BEFREE
Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation.
21270828
2011
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
Biomarker
disease
BEFREE
In addition, approximately 10% of aHUS patients have a functional CFH deficiency due to anti-CFH antibodies.
20090363
2010
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
BEFREE
Following the finding of MPGN II in Factor H deficient animals, patients with MPGN II were identified presenting with an activated complement system caused by Factor H deficiency .
17024390
2007
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
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
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
Biomarker
disease
BEFREE
We suggest that protracted administration of exogenous factor H might not be a long-term strategy in homozygous factor H deficiency .
16909242
2006
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).
16612335
2006
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
Biomarker
disease
BEFREE
By regular analysis of factor H in patients with aHUS, the authors found a complete factor H deficiency in an infant in whom aHUS developed at 8 months of age.
15685522
2005
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.
14978182
2004
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
Combined kidney and liver transplantation for familial haemolytic uraemic syndrome.
12020532
2002
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
11170895
2001
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.
11170896
2001
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.
11158219
2001
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
Biomarker
disease
GENOMICS_ENGLAND
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
11170895
2001
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
Molecular basis for factor H and FHL-1 deficiency in an Italian family.
10803850
2000
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GeneticVariation
disease
UNIPROT
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.
9312129
1997
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
AlteredExpression
disease
BEFREE
Other complement aberrations in the patient were: the presence of a null gene for C4A and C4B and low serum levels of factor H . The father also had partial factor H deficiency .
2088459
1990
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
GermlineCausalMutation
disease
ORPHANET
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
3075
Gene Symbol:
CFH
CFH
0.800
CausalMutation
disease
CLINVAR
×
Entrez Id:
27259
Gene Symbol:
HPLH1
HPLH1
0.010
Biomarker
disease
BEFREE
This study emphasizes that modifiers such as CD46 and FHL-1 may determine the kidney phenotype of patients who present with homozygous CFH deficiency .
23870792
2013
×
Entrez Id:
4179
Gene Symbol:
CD46
CD46
0.010
Biomarker
disease
BEFREE
This study emphasizes that modifiers such as CD46 and FHL-1 may determine the kidney phenotype of patients who present with homozygous CFH deficiency .
23870792
2013