CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
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 		0.400 Biomarker disease BEFREE However, we found increased levels of iron, transferrin, and ceruloplasmin in microglial cells, indicating an attempt by the immune system to remove the excess iron. 28233916 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease BEFREE Our inability to resolve the patient's iron overload by regular phlebotomy is consistent with recent animal studies indicating an essential role for ceruloplasmin in cellular iron efflux. 11076887 2000
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 AlteredExpression disease BEFREE Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. 16831606 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Hereditary hyperferritinemias are linked to mutations of three genes: the L-ferritin gene responsible for the hereditary hyperferritinemia cataract syndrome (without iron overload), the ferroportin gene leading to a dominant form of iron overload, and the ceruloplasmin (CP) gene corresponding to an iron overload syndrome with neurological symptoms. 15842597 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease CTD_human Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. 20801540 2010
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Here, we report the identification, clinical characterization, and in silico analysis of a novel compound heterozygosity in the ceruloplasmin gene of a 31-year-old man with iron overload. 17710675 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease BEFREE These data suggest that the reported role of ceruloplasmin cannot fully explain the iron hepatosplenic phenotype in HA, encouraging the search for additional mechanisms.-Kenawi, M., Rouger, E., Island, M.-L., Leroyer, P., Robin, F., Remy, S., Tesson, L., Anegon, I., Nay, K., Derbré, F., Brissot, P., Ropert, M., Cavey, T., Loréal, O. Ceruloplasmin deficiency does not induce macrophagic iron overload: lessons from a new rat model of hereditary aceruloplasminemia. 31560858 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease BEFREE Ceruloplasmin (Cp), a copper-containing protein, plays a significant role in body iron homeostasis as aceruloplasminemia patients and Cp knock-out mice exhibit iron overload in several tissues including liver and brain. 19019832 2009
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 AlteredExpression disease BEFREE A role of the copper protein ceruloplasmin (Cp) in iron metabolism is suggested by its ferroxidase activity and by the tissue iron overload in hereditary Cp deficiency patients. 10777486 2000
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 AlteredExpression disease BEFREE The absence of ceruloplasmin and its ferroxidase activity leads to pathological iron overload in the brain and other organs. 17307325 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Aceruloplasminemia is an autosomal recessive disease of iron overload associated with mutation(s) in the ceruloplasmin gene. 12044538 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. 12200392 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease BEFREE Glutathione synthesis inhibitor butathione sulfoximine regulates ceruloplasmin by dual but opposite mechanism: Implication in hepatic iron overload. 20211720 2010