Other Names for this Disease
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 It is the autosomal recessive form of familial Porphyria Cutanea Tarda (f-PCT). The manifestations of HEP resemble Congenital Erythropoietic Porphyria (CEP), with symptoms of skin blistering that usually begin in infancy. Treatment may include scheduled phlebotomy and low dose hydroxychloroquine.Hepatoerythropoietic porphyria (HEP) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase.
Last updated: 10/26/2010
- Hepatoerythropoietic Porphryia (HEP). The Porphyrias Consortium. http://rarediseasesnetwork.epi.usf.edu/porphyrias/patients/HEP/index.htm. Accessed 10/26/2010.
- Hepatoerythropoietic Porphyria (HEP). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/HEP. Accessed 10/26/2010.
- Genetics Home Reference (GHR) contains information on Hepatoerythropoietic porphyria. This website is maintained by the National Library of Medicine.
- 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 Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Hepatoerythropoietic porphyria. Click on the link to view a sample search on this topic.