CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Disease: Ceruloplasmin deficiency ×
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 GeneticVariation disease BEFREE We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. 15082597 2004
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 GeneticVariation disease BEFREE A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. 9559983 1998
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 GeneticVariation disease BEFREE Taken together, these studies reveal new insights into the determinants of holoceruloplasmin biosynthesis and indicate that aceruloplasminemia can result from retention of mutant ceruloplasmin within the early secretory pathway. 11689569 2002
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 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 GeneticVariation disease BEFREE Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. 16775387 2006
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE Aceruloplasminemia is an autosomal recessive disease of iron overload associated with mutation(s) in the ceruloplasmin gene. 12044538 2002
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 GeneticVariation disease CLINVAR
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 GeneticVariation disease BEFREE Accordingly, plasma NO oxidase activity was decreased after ceruloplasmin immunodepletion, in ceruloplasmin knockout mice and in people with congenital aceruloplasminemia. 16906150 2006
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 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 GeneticVariation disease BEFREE A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus. 8526944 1995
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease BEFREE We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. 7539672 1995
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 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 GENOMICS_ENGLAND
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 Biomarker disease BEFREE Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. 8968753 1996
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND Ceruloplasmin is involved in iron metabolism, and the findings suggest that hypoceruloplasminemia due to lack of apoceruloplasmin was causally linked to the iron deposition in basal ganglia and other organs, leading to blepharospasm and retinal degeneration. 3574673 1987
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease HPO
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