Other Names for this Disease
- Porphyria variegate
- Porphyria, South African type
- Protoporphyrinogen oxidase deficiency
- PPOX deficiency
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hepatic porphyria most common in the white South African population. This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity. The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase. Acute attacks are managed and may be prevented as in acute intermittent porphyria.Variegate porphyria is a form of
Last updated: 7/19/2010
- Variegate Porphyria (VP). American Porphyria Foundation. 2010; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP. Accessed 7/19/2010.
- Porphyria, Variegate. National Organization for Rare Disorders (NORD). 2001; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Porphyria%2C%20Variegate. Accessed 7/19/2010.
- Porphyria. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 7/19/2010.
- Genetics Home Reference (GHR) contains information on Variegate porphyria. This website is maintained by the National Library of Medicine.
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- The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Variegate porphyria. Click on the link to view a sample search on this topic.