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 Biomarker disease GENOMICS_ENGLAND
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease HPO
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 GeneticVariation disease CLINVAR
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 BEFREE 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 BEFREE The presence of this mutation in conjunction with the clinical and pathologic findings demonstrates an essential role for ceruloplasmin in human biology and identifies aceruloplasminemia as an autosomal recessive disorder of iron metabolism. 7708681 1995
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 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 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 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 MGD To elucidate the role of ceruloplasmin in iron homeostasis, we created an animal model of aceruloplasminemia by disrupting the murine ceruloplasmin (Cp) gene. 10485908 1999
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.900 Biomarker disease MGD Copper transport and metabolism are normal in aceruloplasminemic mice. 11461924 2001
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 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 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 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 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 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 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 Biomarker disease BEFREE The lack of ceruloplasmin may primarily damage astrocytes in the aceruloplasminemia brains through lipid peroxidation. 14719552 2003
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 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 Biomarker disease GENOMICS_ENGLAND Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. 15338274 2004
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