HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
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 Overall, these data suggest that the liver iron accumulation in patients with CAH C is significantly associated with histological activity and cirrhosis, whereas the two missense hemochromatosis gene mutations are not major determinants. 10604569 1999
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE To determine the risk of developing cirrhosis and liver cancer in individuals with HFE mutations in a population where few people were being treated for haemochromatosis. 10673304 2000
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation. 10655270 2000
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 Biomarker disease BEFREE The pathogenesis of iron overload in cirrhosis in the absence of hemochromatosis gene (HFE) mutations is poorly understood. 11093725 2000
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE The results indicate that HH patients with the HFE C282Y mutation and low numbers of CD8+ cells in the liver lobuli have higher iron stores and are more prone to develop liver cirrhosis. 11168438 2001
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed. 11473464 2001
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 Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation. 12109859 2002
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 Biomarker disease BEFREE Serum markers of iron status and HFE mutations were determined in 179 patients with alcoholic cirrhosis and 98 patients with hepatitis B and/or hepatitis C virus-related cirrhosis. 12003382 2002
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 Biomarker disease BEFREE In the second study (2002), 206 subjects with classical HFE-associated hemochromatosis in whom liver biopsy had been performed were evaluated to quantify the contribution of excess alcohol consumption to the development of cirrhosis in hemochromatosis. 12957297 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE After adjustment for duration of infection with hepatitis C virus, HFE mutations were also independently associated with the presence of bridging fibrosis or cirrhosis (odds ratio, 18; 95% confidence interval, 1.7-193). 12557137 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated with elevated serum ferritin levels, stainable liver iron, and advanced fibrosis or cirrhosis (F2-F4). 14557859 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 Biomarker disease BEFREE 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
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 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 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
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 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 Severe fibrosis and cirrhosis were associated more markedly with the presence of hemosiderin iron in the 3 hepatic compartments, HFE mutations, and high alcohol intake. 16416733 2005
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 Biomarker disease BEFREE We conclude that there is significant bone loss in HFE-related hemochromatosis that cannot solely be explained by hypogonadism or cirrhosis. 15928800 2005
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE There were no significant differences in the prevalence of HFE gene mutations among subjects with fibrosis (35.5%) versus cirrhosis (32.9%). 17101320 2006
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 BEFREE The influence of HFE gene mutations and liver iron overload on hepatocellular carcinoma (HCC) occurrence in patients with cirrhosis is subjected to controversial results. 18061182 2008
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis. 19930418 2010
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis. 20583211 2010