CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
0.800 GeneticVariation disease UNIPROT Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. 12020532 2002
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
0.800 GeneticVariation disease UNIPROT Molecular basis for factor H and FHL-1 deficiency in an Italian family. 10803850 2000
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
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
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
0.800 GermlineCausalMutation disease ORPHANET
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
0.800 Biomarker disease CTD_human
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
0.800 CausalMutation disease CLINVAR