CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Hemolytic-Uremic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE The pathophysiology of factor H-associated HUS was analysed. 14564205 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE Results of previous studies on HF1 indicate an association between HF1 deficiency and D-HUS. 14615110 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality. 12836093 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease BEFREE Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. 14583443 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE These defective features of the mutant factor H proteins explain progression of endothelial cell and microvascular damage in factor H-associated genetic HUS and indicate a protective role of factor H for tissue integrity during thrombus formation. 12697737 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE In conclusion, although APOLT showed clinical and laboratory improvement for some period in this patient, the final fatal outcome suggests that liver transplantation should be cautiously applied to patients with HUS associated with FH deficiency. 14986080 2004
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE Data obtained from HUS patients and control individuals indicate that this assay is a useful tool for the molecular diagnosis of factor H-related HUS. 15140578 2004
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease BEFREE The HF-1 gene encodes complement factor H and the mutation leads to the insertion of 12 additional amino acids after codon 1176 in factor H. The recurrent HUS responded to plasma infusions and renal function improved from a glomerular filtration rate of 21 to 50 ml/min per 1.73 m(2). 15206027 2004
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE Four children with homozygous or heterozygous FH deficiency and HUS underwent renal transplantation, which was successful in three but failed as a result of recurrence of HUS in one patient. 14978182 2004
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease BEFREE Factor H mutations have been described in 15-30% of patients with atypical haemolytic uraemic syndrome (HUS). 15121049 2004
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE This case indicates that more fundamental research is needed before combined liver and kidney transplant is considered an option for children with HF-1-associated HUS. 15816899 2005
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease BEFREE The feasibility of kidney transplantation in case of atypical HUS related to factor H mutation using continuous prophylactic PE intensified during relapses should be confirmed in prospective studies. 15696434 2005
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease LHGDN De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. 16470555 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease LHGDN Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. 16386793 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease BEFREE In order to identify the structural and functional consequence of HUS mutations, further disease-associated mutations were analyzed in terms of homology and nuclear magnetic resonance (NMR) models for factor H SCR domains. 16281287 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease LHGDN A heterozygous mutation in CCP 20 of factor H was found in a girl with HUS. 16528247 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease LHGDN This report suggests that despite setbacks in previous experience, combined liver-kidney transplantation offers the prospect of a favorable long-term outcome for patients with HUS associated with complement factor H mutations. 16889549 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE A user's guide to the interactive Web database of factor H-associated hemolytic uremic syndrome. 16575691 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease BEFREE This report suggests that despite setbacks in previous experience, combined liver-kidney transplantation offers the prospect of a favorable long-term outcome for patients with HUS associated with complement factor H mutations. 16889549 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE So far, mutations in single genes coding for the cofactor and complement regulator factor H, the membrane cofactor protein (MCP/CD46), the serine protease factor I, and autoantibodies to factor H have been linked to HUS. 16575689 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE MCP-HUS has a better prognosis and a better outcome after transplantation than either CFH-HUS or IF-HUS. 16968692 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease LHGDN Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. 17076561 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease BEFREE A heterozygous mutation in CCP 20 of factor H was found in a girl with HUS. 16528247 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 Biomarker disease BEFREE Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. 17495132 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.400 GeneticVariation disease LHGDN Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. 17599974 2007