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 CausalMutation disease CLINVAR
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 AlteredExpression disease BEFREE This finding confirms that a protoporphyrinogen oxidase decreased activity reflects the primary genetic defect in Porphyria Variegata. 7327566 1981
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease BEFREE Studies of the enzymes of haem biosynthesis in peripheral blood cells showed a dual enzyme deficiency, with reduced activity of both porphobilinogen deaminase, as seen in acute intermittent porphyria, and protoporphyrinogen oxidase, as seen in variegate porphyria. 2864531 1985
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 Biomarker disease BEFREE Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. 3015635 1986
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease CLINVAR Is the VBR still a useful measure of changes in the cerebral ventricles? 1946837 1991
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 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 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 UNIPROT Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. 8817334 1996
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease BEFREE Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. 8817334 1996
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 GeneticVariation disease UNIPROT 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 UNIPROT While earlier workers thought the distal haem biosynthetic enzyme ferrochelatase may be involved in the genesis of VP, it was shown in the early 1980's, and is now accepted, that VP is associated with decreased protoporphyrinogen oxidase activity (PPO) (E.C.1.3.3.4). 8673113 1996
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.900 AlteredExpression disease BEFREE While earlier workers thought the distal haem biosynthetic enzyme ferrochelatase may be involved in the genesis of VP, it was shown in the early 1980's, and is now accepted, that VP is associated with decreased protoporphyrinogen oxidase activity (PPO) (E.C.1.3.3.4). 8673113 1996
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 Three variegate porphyria mutant PPO enzymes were expressed and characterized. 9074790 1997
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 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 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 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 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 GeneticVariation disease BEFREE Our investigation establishes that a nonsense mutation in the protoporphyrinogen oxidase gene is the underlying mutation in this family with variegate porphyria. 9540990 1998