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: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE 3) Don't order HFE genotyping based on serum ferritin values alone to diagnose hereditary hemochromatosis. 31113586 2020
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases. 30339210 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE Hemochromatosis: Hereditary hemochromatosis and HFE gene. 30798813 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE The 2 HFE variants account for ∼85% of all cases of hereditary haemochromatosis. 31226389 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency. 30244162 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. 31582009 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE However, because of the rarity and difficulty in making the genetic diagnosis, a large proportion of patients with non-HFE HH might have been undiagnosed; therefore, awareness of this disorder is important. 29134618 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE Although the relationship between hereditary hemochromatosis and mutations in the HFE gene was discovered more than 20 years ago, information on the in vivo regulation of HFE protein expression is still limited. 29927322 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes. 28771247 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE Non-HFE HH can be associated with mutations in HJV, HAMP, TFR2 and SLC40A1 genes. 30195625 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE - Our "one-button" order that restricts HFE genetic tests to patients with transferrin saturation greater than 45% is consistent with published practice guidelines and detected 100% of new patients with HFE-related hereditary hemochromatosis. 28981372 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE All clinical outcomes analyzed were more prevalent in the juvenile forms of HH, with the exception of arthritis and arthropathy, which were more commonly seen in HFE HH. 29743178 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. 28930842 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE Mutations in the <i>HFE</i> (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. 28280078 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE Hyperferritinemia increases the risk of hyperuricemia in HFE-hereditary hemochromatosis. 27659401 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder. 29270100 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis. 27936457 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE The iron overload disorder hereditary haemochromatosis is most commonly caused by HFE p.Cys282Tyr homozygosity. 29195602 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis. 28267532 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE For HH, WGS identified a known disease variant (p.C282Y) in HFE of an affected female. 28228131 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. 28727322 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE The most common type of hereditary hemochromatosis is caused by HFE gene mutation. 28406842 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE Severe periodontitis is associated with the severity of iron burden in patients with HFE-related hereditary haemochromatosis. 28586532 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 GeneticVariation disease BEFREE Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least five different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. 28335084 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.700 Biomarker disease BEFREE In patients with a combination of elevated TSAT and ferritin in the absence of anaemia, and after exclusion of HFE-related HH, rare forms of HH should be considered. 28276324 2017