CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 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: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE The essential role of CP in iron metabolism in humans is particularly evident in the case of loss-of-function mutations in the CP gene resulting in a neurodegenerative syndrome known as aceruloplasminaemia. 30895493 2019
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 AlteredExpression disease BEFREE Heterozygosity for aceruloplasminemia invariably causes reduced ceruloplasmin levels, and similarly to previews reports in the literature, our cases did not present with anemia. 30901137 2019
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE Aceruloplasminemia (ACP) is a rare, adult-onset, autosomal recessive disorder, characterized by systemic iron overload due to mutations in the Ceruloplasmin gene (<i>CP</i>), which in turn lead to absence or strong reduction of CP activity. 31024241 2019
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease BEFREE We investigated the potential of ceruloplasmin replacement therapy in reducing the neurological pathology in the ceruloplasmin-knockout (CpKO) mouse model of aceruloplasminemia. 29183916 2018
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease BEFREE Recent studies in animal models of aceruloplasminemia support the possibility of new therapeutic approaches by parenteral ceruloplasmin administration. 30568573 2018
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE We report the case of a patient with hereditary ceruloplasmin deficiency due to a novel gene mutation in ceruloplasmin gene (CP), treated with fresh frozen plasma (FFP) and iron chelation therapy. 27817091 2017
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease BEFREE Ceruloplasmin, a multi-copper oxidase, is mainly involved in iron metabolism and its genetic defect, aceruloplasminemia (ACP), shows neurological disorders and diabetes associated with excessive iron accumulation, but little is known about the state of copper in the brain. 27272717 2017
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 CausalMutation disease CLINVAR New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. 28012953 2017
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 CausalMutation disease CLINVAR Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? 26777753 2016
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 CausalMutation disease CLINVAR Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. 25864092 2015
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey. 25247888 2014
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease BEFREE Clinical and pathologic studies in patients with aceruloplasminemia and ceruloplasmin knockout mice revealed increased lipid peroxidation due to iron-mediated cellular radical injury which is caused by a marked accumulation of iron in the affected parenchymal tissues such as the retina, liver, pancreas and brain. 22515740 2012
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease CTD_human Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. 22243965 2012
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease BEFREE Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. 22243965 2012
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE Homozygous mutations in the ceruloplasmin gene cause aceruloplasminemia, which is characterized by the triad of diabetes, retinopathy, and a neurological disorder in mid adulthood. 21496576 2011
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease CTD_human A novel homozygous ceruloplasmin gene mutation, c.2554+1G>T, was identified as the cause of aceruloplasminemia in three affected siblings. 20801540 2010
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE A novel homozygous ceruloplasmin gene mutation, c.2554+1G>T, was identified as the cause of aceruloplasminemia in three affected siblings. 20801540 2010
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE The properties of mutant ceruloplasmin regarding the regulation of ferroportin may therefore provide a therapeutic strategy for aceruloplasminemia patients. 20655381 2010
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease BEFREE Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. 19095659 2009
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 CausalMutation disease CLINVAR Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. 19095659 2009
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease MGD Increased vulnerability to rotenone-induced neurotoxicity in ceruloplasmin-deficient mice. 18804145 2008
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE The aim of this study was to elucidate the molecular pathogenesis of aceruloplasminemia by a functional analysis of mutant ceruloplasmin. 17637479 2007
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease BEFREE The investigation of mutant ceruloplasmin reveals new insights into molecular pathogenesis of aceruloplasminemia as well as biosynthesis, trafficking, and function of ceruloplasmin. 16629161 2006