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 CausalMutation disease CLINVAR Mechanisms of copper incorporation into human ceruloplasmin. 12351628 2002
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 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 AlteredExpression disease BEFREE A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. 11909923 2002
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 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 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 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 CausalMutation disease CLINVAR Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 15082597 2004
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 CausalMutation disease CLINVAR A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. 11909923 2002
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 CTD_human Aceruloplasminemia is an inherited disorder of iron metabolism due to the complete lack of ceruloplasmin ferroxidase activity caused by mutations in the ceruloplasmin gene. 12572680 2003
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 AlteredExpression disease BEFREE The presence of neurologic symptoms in aceruloplasminemia is unique among the known inherited and acquired disorders of iron metabolism; recent studies revealed an essential role for astrocyte-specific expression of ceruloplasmin in iron metabolism and neuronal survival in the central nervous system. 9587138 1998
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 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 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 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 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