Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation.
|
21270828 |
2011 |
Complement Factor H Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
In addition, approximately 10% of aHUS patients have a functional CFH deficiency due to anti-CFH antibodies.
|
20090363 |
2010 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Combined kidney and liver transplantation for familial haemolytic uraemic syndrome.
|
12020532 |
2002 |
Complement Factor H Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
|
11170895 |
2001 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis for factor H and FHL-1 deficiency in an Italian family.
|
10803850 |
2000 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
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 |
Complement Factor H Deficiency
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Complement Factor H Deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Complement Factor H Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|