PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
Disease: Variegate Porphyria ×
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 GeneticVariation disease BEFREE These data establish that a frameshift mutation in PPO is the underlying mutation in this patient with VP and explain the sporadic occurrence of the phenotype in this family. 9003509 1997
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE In this study, we identified two different missense mutations in the translation initiation codon of the PPO gene in two unrelated patients with VP. 10457135 1999
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 Biomarker disease BEFREE The mutations reported here are the first to be described in patients with VP and support the conclusion that PPOX gene defects are disease causing mutations in human variegate porphyria. 8852667 1996
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 UNIPROT Homozygous variegate porphyria presenting with developmental and language delay in childhood. 24073655 2013
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease BEFREE Variegate porphyria (VP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of protoporphyrinogen oxidase (PPOX). 11474578 2001
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease BEFREE A partial deficiency in another enzyme, protoporphyrinogen oxidase, produces variegate porphyria (VP), the second acute porphyria most frequent in the Argentinean population (1:600,000). 12899439 2003
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 CausalMutation disease CLINVAR
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. 11474578 2001
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Our findings define the molecular pathology of homozygous VP and suggest that mild PPOX mutations occur in the general population but have very low or no clinical penetrance in heterozygotes. 9811936 1998
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 AlteredExpression disease BEFREE We conclude that this procedure should not replace PO activity measurement in VP family studies. 7586575 1995
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. 9738863 1998
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT In this study, we identified a mutation in the PPO gene in a patient with VP and two unaffected family members. 9541112 1998
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 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 Biomarker disease MGD A mouse model for South African (R59W) variegate porphyria: construction and initial characterization. 11929050 2002
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. 10870850 2000
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 Our study established that a missense mutation in the PPO gene was the underlying mutation in this patient with VP and explained the occurrence of the phenotype in this family. 9763307 1998
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease GENOMICS_ENGLAND Our findings define the molecular pathology of homozygous VP and suggest that mild PPOX mutations occur in the general population but have very low or no clinical penetrance in heterozygotes. 9811936 1998
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families. 9778454 1998
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. 8634714 1995
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