CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. 9888388 1999
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Our findings add substantially to knowledge of the molecular epidemiology of HCP, show that single copies of CPO mutations that are known or predicted to cause "homozygous" HCP or harderoporphyria can produce typical HCP in adults, and demonstrate that the severity of the phenotype does not correlate with the degree of inactivation by mutation of coproporphyrinogen oxidase. 11309681 2001
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. 9048920 1997
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE No Italian patients with defects in coproporphyrinogen oxidise (CPOX) gene, responsible for hereditary coproporphyria (HCP), have been detected. 12699245 2002
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. 7592568 1995
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 AlteredExpression disease BEFREE For HC, the CPO mRNA determinations strongly suggest that normal CPO alleles with low-expression are present, but whether this low-expression of the wild-type allele could modulate the penetrance of a CPO gene defect in HC families remains to be ascertained. 14669009 2004
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE The pattern of porphyrin excretion and the coproporphyrinogen oxidase from the three patients exhibited abnormalities that were different from the abnormalities found in another recently described homozygous case of hereditary coproporphyria. 6886003 1983
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE Together, these findings resolve several questions regarding CPO catalysis and provide insights into hereditary coproporphyria. 16176984 2005
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. 21231929 2012
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. 9843038 1998
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE Here, we explored mitochondrial energetics in peripheral blood mononuclear cells [PBMCs] and platelets in persons with AIP and hereditary coproporphyria [HCP]. 31153822 2019
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Molecular cloning, sequencing and expression of the defective gene for coproporphyrinogen oxidase (CPO) in a patient with HCP were carried out. 7849704 1994
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Molecular cloning, sequencing and expression of the defective gene for coproporphyrinogen oxidase (CPO) in a patient with HCP were carried out. 9074789 1997
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria. 11202054 2000
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 AlteredExpression disease BEFREE Hereditary coproporphyria (HCP) is an autosomal dominant acute hepatic porphyria due to the half-normal activity of the heme biosynthetic enzyme, coproporphyrinogen oxidase (CPOX). 21103937 2011
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO). 9747031 1998
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE This enzyme catalyzes the sixth step of the heme biosynthetic pathway, and mutations in the CPO gene have been coupled to HCP. 12181641 2002
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 AlteredExpression disease BEFREE The monomer form of mutated CPOX did not show any activity and homodimeric enzymes derived from HCP mutant showed low activity (<20% of the control). 24078084 2013
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Defects in the coproporphyrinogen oxidase (CPOX) enzyme result in the autosomal dominant hereditary coproporphyria. 23582006 2013
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp). 29660996 2018
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 AlteredExpression disease BEFREE Her mother and both sisters could be verified as heterozygous gene carriers of hereditary coproporphyria by their urinary and fecal excretion parameters and because of reduced coproporphyrinogen oxidase activity up to 50%. 11929047 2002
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE These diseases are caused by a deficiency of coproporphyrinogen oxidase (CPOX) in HCP, and protoporphyrinogen oxidase (PPOX) in VP. 30476629 2019
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE Our findings add substantially to knowledge of the molecular epidemiology of HCP, show that single copies of CPO mutations that are known or predicted to cause "homozygous" HCP or harderoporphyria can produce typical HCP in adults, and demonstrate that the severity of the phenotype does not correlate with the degree of inactivation by mutation of coproporphyrinogen oxidase. 11309681 2001
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site, thereby accounting for the Harderoporphyria phenotype. 21103937 2011
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. 30828546 2019