CPO, carboxypeptidase O, 130749

N. diseases: 15; N. variants: 2
Disease: Hereditary Coproporphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE Here we report the characterization of four novel mutations and a previously described one of the coproporphyrinogen III oxidase (CPO) gene in five Italian patients affected by Hereditary Coproporphyria (HCP). 19267996 2009
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 AlteredExpression disease BEFREE Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. 16159891 2005
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE A few patients have also been reported who are homoallellic or heteroallelic for CPO mutations and are clinically distinct from those with HCP. 11309681 2001
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE Five intragenic dimorphisms are now well characterized and the high degree of allelic heterogeneity in HC is demonstrated with seven new different mutations making a total of nineteen CPO gene defects reported so far. 9888388 1999
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family. 9843038 1998