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 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 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
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 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 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 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 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 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 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 BEFREE Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis. 28617828 2017
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 GeneticVariation disease BEFREE This study was designed to determine the prevalence of iron overload in relation to HFE gene mutations among Polish patients with liver cirrhosis. 21669570 2011
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 RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes. 23990522 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE Fibrosis stage can decrease following treatment in patients with hemochromatosis caused by mutations in the homeostatic iron regulator gene (HFE), but the effects on cirrhosis are not clear. 31622736 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.100 GeneticVariation disease BEFREE Association between rs236918 and cirrhosis was confirmed in Austrian/Swiss HFE C282Y homozygotes (P = 0.014; ORallelic = 1.82 (95% CI 1.12-2.95) but not in Swedish patients. 24556216 2014
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 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 In conclusion, cirrhosis in HFE p.C282Y homozygotes is significantly associated with age, diabetes, daily alcohol intake, and iron removed by phlebotomy, taking into account the effect of other variables. 30145563 2018
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 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 Biomarker disease BEFREE In conclusion, the combination of HFE-haemochromatosis and occult HBV infection in this patient might have led to a sequel of cellular events that determined the development of HCC even in the absence of cirrhosis. 22989571 2013
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