PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 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: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 AlteredExpression disease BEFREE Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. 29516370 2018
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Only 2 (4% [CI, 0.01% to 15%]) had evidence of the phenotypes predicted by an MDR result (fundus albipunctatus due to RDH5 and variegate porphyria due to PPOX). 28654958 2017
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease BEFREE The partial deficiency of protoporphyrinogen oxidase causes variegate porphyria. 27667166 2016
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. 25445397 2015
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Defects in the human protoporphyrinogen oxidase (hPPO) gene, resulting in ~50% decreased activity of hPPO, is responsible for the dominantly inherited disorder variegate porphyria (VP). 23467411 2013
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Homozygous variegate porphyria presenting with developmental and language delay in childhood. 24073655 2013
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 AlteredExpression disease BEFREE Supplementation with antioxidant vitamins increased PPOX expression in VP patients. 23601071 2013
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT We have found that the probability of the privileged conformations of hPPO can be correlated very well with the k(cat)/K(m) of PPO (correlation coefficient, R(2) > 0.9), and the catalytic activity of 44 clinically reported VP-causing mutants can be accurately predicted. 23467411 2013
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE We show that both deletions are mediated by Alu repeats.Our findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with VP. 23324528 2013
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE The disease is inherited in an autosomal dominant fashion with incomplete penetrance and PPOX gene mutations associated with VP are usually unique to patients and their families. 21910705 2012
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT These results reinforce the importance of molecular genetic analysis for VP diagnosis and especially the usefulness of prokaryotic expression of missense mutations to assess their deleterious effect on PPOX activity.MM and BXG contributed equally to the publication.RES and MVR share senior authorship. 23430901 2012
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease BEFREE HCP and VP result from a partial enzymatic deficiency of coproporphyrinogen oxidase (CPOX) and protoporphyrinogen oxidase (PPOX), respectively. 21734717 2011
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Structural insight into human variegate porphyria disease. 21048046 2011
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate. 19320019 2009
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications. 19656457 2009
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina. 18570668 2008
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE In humans, mutations in ppox result in variegate porphyria. 18550261 2008
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina. 18570668 2008
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate. 18350656 2007
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease LHGDN Variegate porphyria (VP), also known as South African porphyria, is a low-penetrance, autosomal dominant disorder as the result of a partial deficiency of protoporphyrinogen oxidase (PPOX). 16947091 2006
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE However, we could not detect a mutation in the coding or the promotor region of the protoporphyrinogen oxidase gene that is mutated in variegate porphyria. 17298217 2006
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Using polymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the paternal allele and a frameshift mutation in exon 13 on the maternal allele of the protoporphyrinogen oxidase gene that harbours the mutations underlying VP. 16433813 2006
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Variegate porphyria is an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. 16621625 2006
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT First, to establish the mutations of the protoporphyrinogen-oxidase (PPOX) gene in four Spanish patients with variegate porphyria (VP). 16922948 2006