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 GeneticVariation disease BEFREE Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload. 11836175 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE We report that urinary excretion of hepcidin was greatly increased in patients with iron overload, infections, or inflammatory diseases. 12433676 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE However, results of some studies indicate a link between hepcidin, a liver-derived peptide, and intestinal iron absorption, suggesting that this molecule could play a part in hepatic iron overload. 12606179 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE In this study, we characterized the expression of human hepcidin in experimental and clinical iron overload conditions, including hereditary hemochromatosis. 12637325 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Recent evidence shows that deficient hepcidin response to iron loading may contribute to iron overload even in the much milder common form of hemochromatosis, from mutations in the HFE gene. 12663437 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. 12704388 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE We have detected two new HAMP mutations in two different families, in which there is concordance between severity of iron overload and heterozygosity for HAMP mutations when present with the HFE C282Y mutation. 12915468 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Hepcidin is a hepatic antimicrobial-like peptide whose role in iron homeostasis was first defined in animal models; deficiency of hepcidin in mice leads to iron overload, whereas its hepatic overexpression in transgenic animals causes iron deficiency. 14630809 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease LHGDN Based on a digenic model of inheritance, these data suggest that the association of heterozygous mutations in the HFE and HAMP genes could lead, at least in some cases, to an adult-onset form of primary iron overload. 14670915 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE In addition, hepcidin is decreased in HFE knockout mice, which demonstrates characteristics of iron overload as in hemochromatosis patients. 14704284 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE HAMP gene mutations have been described to date in five families with iron overload. 15024747 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Hepcidin is considered to constitute a negative regulator of iron absorption, and its production is increased in inflammatory states and iron overload. 15198949 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease LHGDN We measured urinary hepcidin in patients with other genetic causes of iron overload. 15671438 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE Kupffer cells and macrophages are not required for hepatic hepcidin activation during iron overload. 15726660 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 Biomarker disease BEFREE A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). 15811010 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE In humans, this could explain that low levels of hepcidin found during juvenile haemochromatosis and HFE-1 genetic haemochromatosis are associated with an iron overload phenotype. 15974953 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease. 15986403 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE Here we show that, within the liver, mouse Hjv is selectively expressed by periportal hepatocytes and also that Hjv-mutant mice exhibit iron overload as well as a dramatic decrease in hepcidin expression. 16075058 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 AlteredExpression disease BEFREE An HFE-independent pathway that seems to involve TFR2 and HJV can regulate HAMP expression under conditions of iron overload. 16103673 2005
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 This mutation was associated with both parenchymal and reticuloendothelial iron overload in the liver, and with reduced urinary hepcidin excretion. 16351644 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE No mutations were found in the other hemochromatosis genes, hepcidin, HFE, ferroportin or transferrin receptor 2, which might have contributed to her iron overload. 16424663 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.600 GeneticVariation disease BEFREE Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations identified in the HJV gene (subtype A) on chromosome 1 and the HAMP gene (subtype B) on chromosome 19; type 3 has also an autosomal recessive inheritance with mutations in the TfR2 gene on chromosome 3; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2. 16493621 2006
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 hepatic peptide hepcidin, a key regulator of iron metabolism in mammals, was recently found to be low in the urine of beta-thalassemia patients, compared with healthy controls, despite their iron overload. 16755567 2006