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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Variegate porphyria


Other Names for this Disease

  • Porphyria variegate
  • Porphyria, South African type
  • PPOX deficiency
  • Protoporphyrinogen oxidase deficiency
  • VP

Related Diseases

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Inheritance

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How is variegate porphyria inherited?

Variegate porphyria is inherited in an autosomal dominant manner, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria.[1][2]
Last updated: 7/19/2010

References
  1. Variegate Porphyria (VP). American Porphyria Foundation. 2010; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP. Accessed 7/19/2010.
  2. Porphyria. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 7/19/2010.


Other Names for this Disease
  • Porphyria variegate
  • Porphyria, South African type
  • PPOX deficiency
  • Protoporphyrinogen oxidase deficiency
  • VP
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.