HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Disease: Iron Overload ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Our results suggest that, in beta-thalassaemia, serum factors might override the potential effect of iron overload on HAMP expression, thereby providing an explanation for the failure to arrest excessive intestinal iron absorption in these patients. 16939499 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE These findings demonstrate a molecular link between hepatic hepcidin and intestinal HIF-2α that controls physiological iron uptake and drives iron hyperabsorption during iron overload. 30352047 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Correcting levels of hepcidin is important for reducing iron-overload, which is a risk factor for diabetes. 28841871 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Hyperlipidemia could cause iron overload in the aorta and increased serum hepcidin level, particularly in FPN1 Tek-cre mice, and can be reversed by TMP intervention. 29763925 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Furthermore, a deregulation of hepcidin may cause elevated intestinal iron absorption that hallmarks a group of frequent iron overload disorders, the Hereditary Hemochromatosis. 16203112 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE We also showed that ERFE contributes to pathological hepcidin suppression and iron overload in mice with nontransfused β-thalassemia. 28739636 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated. 21411349 2011
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE The aim of this study is to determine the clinical relevance of hepatic producing iron regulatory hormone-hepcidin, on iron overload in patients with chronic hepatitis C (CHC). 18620776 2008
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Now, as the main source of hepcidin, it appears that the loss of the hepcidin-producing liver mass or genetic and acquired factors that repress hepcidin synthesis in the liver may also lead to iron overload. 26725908 2016
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Genetic alterations influence the serum hepcidin concentration, which can lead to an iron overload in tissues, as observed in haemochromatosis, in which serum hepcidin or defective hepcidin synthesis is observed. 28514781 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE These results suggest that iron overload and hepcidin inadequacy existed in CP with T2DM patients. 29636044 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE A likely role for Hepc in iron metabolism was suggested by the observation that mice having disruption of the gene encoding the transcription factor USF2 failed to produce Hepc mRNA and developed spontaneous visceral iron overload. 16629180 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE The majority of the hereditary hemochromatosis (HH) patients are now shown to have mutations in the genes coding either upstream or downstream proteins of hepcidin, resulting in iron overload. 25737209 2015
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Disorders in this subgroup, although differing regarding the severity of iron overload and/or the age at presentation, are all either due to hepcidin deficiency or to the inability to increase hepcidin levels according to iron stores. 19907151 2009
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Iron overload (IOL) starts to develop in MDS patients before they become transfusion-dependent because ineffective erythropoiesis suppresses hepcidin production in the liver and thus leads to unrestrained intestinal iron uptake. 29177643 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE The p.Ala736Val TMPRSS6 variant influences iron metabolism regulating the transcription of the hepatic hormone hepcidin, but its role in the pathogenesis of iron overload disorders is controversial. 23144979 2012
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Hepcidin, a liver-derived hormone, negatively regulates circulating iron levels through an increase in its expression in response to iron overload. 30269025 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Erythroblast-specific <i>Fpn</i> knockout (<i>Fpn</i> KO) mice developed lower serum iron levels in conjunction with tissue iron overload and increased FPN expression in spleen and liver without changing hepcidin levels. 30213870 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Hepcidin, the central regulator of iron homeostasis, is deficient in HH, leading to unchecked iron absorption and subsequent iron overload. 20658468 2010
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease. 26310624 2015
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Iron overload was mediated by decreased hepatic expression of hepcidin, a key regulator of iron homeostasis. 27903529 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Six-month-old hepcidin KO mice showed cytoplasmic acinar iron overload and mild pancreatitis, together with elevated expression of the iron uptake mediators DMT1 and Zip14. 27741349 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE However, excessive hepcidin suppression contributes to iron overload in β-thalassemia. 31800957 2020
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Mice with targeted disruption of the Hjv gene (Hjv-/- mice) fail to upregulate hepatic Hamp1 expression following iron overload. 17395503 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE These results indicate that the p.R75X mutation causes iron overload by impairing the hepcidin system. 22297252 2012