HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Disease: Hereditary hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 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 		0.400 Biomarker disease BEFREE Dysregulation of hepcidin production contributes to the pathogenesis of many iron disorders: hepcidin deficiency causes iron overload in hereditary hemochromatosis and non-transfused β-thalassemia, whereas overproduction of hepcidin is associated with iron-restricted anemias seen in patients with chronic inflammatory diseases and inherited iron-refractory iron-deficiency anemia. 30798807 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE Deregulation of hepcidin expression is a common feature of genetic and acquired iron disorders: in Hereditary Hemochromatosis (HH) and iron-loading anemias low hepcidin causes iron overload, while in Iron Refractory Iron Deficiency Anemia (IRIDA) and anemia of inflammation (AI), high hepcidin levels induce iron-restricted erythropoiesis. 30798817 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE A failure of iron to appropriately regulate liver hepcidin production is central to the pathogenesis of hereditary hemochromatosis. 31127639 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE The inability to appropriately regulate hepcidin production in response to these physiologic cues underlies genetic disorders of iron overload and deficiency, including hereditary hemochromatosis and iron-refractory iron deficiency anemia. 30401708 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Severe types of HH are caused by either bi-allelic mutations of HFE2 that encodes hemojuvelin (type 2A) or HAMP that encodes hepcidin (type 2B). 29134618 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE HJV and HAMP HH are phenotypically and clinically very similar and have the most severe presentation, with cardiomyopathy and hypogonadism being particularly prevalent findings. 29743178 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE Notably, adenine-rich diet significantly ameliorated iron overload accompanied by the enhanced hepcidin expression in both high iron-fed mice and in Hfe<sup>-/-</sup> mice, a murine model of hereditary hemochromatosis. 29600572 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE Iron-loading disorders, such as hereditary hemochromatosis, are associated with inappropriately low expression of the iron regulatory hormone, hepcidin. 29799786 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE Hereditary hemochromatosis (HH), a disease marked by chronic iron overload from insufficient expression of the hormone hepcidin, is one of the most common genetic diseases. 29388418 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3. 29897731 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 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 		0.400 Biomarker disease BEFREE Disturbances in the regulation of hepcidin contribute to the pathogenesis of many iron disorders: hepcidin deficiency causes iron overload in hereditary hemochromatosis and nontransfused β-thalassemia, whereas overproduction of hepcidin is associated with iron-restricted anemias seen in patients with chronic kidney disease, chronic inflammatory diseases, some cancers, and inherited iron-refractory iron deficiency anemia. 28096133 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes. 28363629 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE Patients with hereditary hemochromatosis, despite extreme iron storage, do not show increased manifestation of atherosclerosis probably due to the low expression of hepcidin in macrophages. 28379030 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. 27896572 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE The identification of hepcidin and its role will provide a better understanding for pathogenesis of HH. 27031690 2016
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE However, in certain geographical regions like the Mediterranean area, up to 30% of patients with a HH phenotype has a negative or non-diagnostic (i.e. simple heterozygosity) test, because of a known heterogeneity involving at least four other genes (HAMP, HJV, TFR2, and SLC40A1). 26799139 2016
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE However, whether HFE-HH and HJV-HH share a common pathway via hepcidin regulation is currently unclear. 25608116 2015
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 AlteredExpression disease BEFREE Innately low hepcidin levels lead to iron overload in HFE-associated hereditary haemochromatosis. 25277871 2015
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation 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: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not. 26142323 2015
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 GeneticVariation disease BEFREE Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes. 25976471 2015
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE This study evaluated hepcidin secretion and iron burden after LT to elucidate HH pathophysiology. 23775519 2014
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.400 Biomarker disease BEFREE Mutations in certain genes influencing signaling to hepcidin via the BMP/SMAD pathway are associated with human disorders of iron metabolism, such as hereditary hemochromatosis and iron-refractory iron-deficiency anemia. 24995692 2014