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Genetic and Rare Diseases Information Center (GARD)

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Hepatoerythropoietic porphyria


Other Names for this Disease

  • HEP

Related Diseases

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Overview

Hepatoerythropoietic porphyria (HEP) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase.[1][2] It is the autosomal recessive form of familial Porphyria Cutanea Tarda (f-PCT).[1] The manifestations of HEP resemble Congenital Erythropoietic Porphyria (CEP), with symptoms of skin blistering that usually begin in infancy.[1][2] Treatment may include scheduled phlebotomy and low dose hydroxychloroquine.[1]
Last updated: 10/26/2010

References

  1. Hepatoerythropoietic Porphryia (HEP). The Porphyrias Consortium. http://rarediseasesnetwork.epi.usf.edu/porphyrias/patients/HEP/index.htm. Accessed 10/26/2010.
  2. Hepatoerythropoietic Porphyria (HEP). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/HEP. Accessed 10/26/2010.
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Please contact us with your questions about Hepatoerythropoietic porphyria. We will answer your question and update these pages with new resources and information.

Basic Information

  • 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) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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.
Other Names for this Disease
  • HEP
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.