HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Liver Cirrhosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE Whether or not HFE gene mutations are associated with an increased risk of HCC in patients with cirrhosis is unknown. 12865278 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE The aims of this study were to define the prevalence of the mutations 845G --> A and 187C --> G (C282Y and H63D) in the HFE gene associated with hereditary hemochromatosis in Italian patients with hepatocellular carcinoma occurring in cirrhosis and to analyze the interaction between these mutations and other established risk factors for hepatocellular carcinoma. 11500061 2001
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/L at diagnosis were positively associated with male sex and cirrhosis. 22265917 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE The classical triad of skin hyperpigmentation, diabetes, and liver cirrhosis is nowadays rare but musculoskeletal symptoms are common in HFE-related hemochromatosis. 24264720 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE HFE mutations (C282Y and H63D) were assessed in 162 consecutive patients (131 men/31 women) with HCC.A total of 159 patients had cirrhosis. 12591066 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation. 20673159 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL, transferrin saturation ≥ 45%, and no known history of cirrhosis were enrolled in this dose-escalation study to characterize the safety and efficacy of deferasirox, comprising a core and an extension phase (each 24 weeks). 20814896 2010
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE Recent studies suggest that the risk for HCC in HFE -associated HH may be much lower and occurs predominantly in patients with cirrhosis at the time of diagnosis. 15508107 2004
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE Additionally, patients with cirrhosis did not have frequencies of HFE mutations different from those without cirrhosis. 22297603 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease BEFREE Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic viral hepatitis and that patients with chronic hepatitis C harboring especially the C282Y mutation are more likely to suffer from advanced hepatic fibrosis or cirrhosis and to do so at younger ages. 12957298 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease LHGDN Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis. 16802007 2006
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 GeneticVariation disease LHGDN Considering all HFE heterozygous HCV patients, odds ratios of 3.6 (CI 1.4-9.3; P<0.009) for cirrhosis and 3.1 (CI 1.3-7.3; P<0.009) for fibrosis were calculated. 12586300 2003