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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Porphyria variegate
  • VP
  • Porphyria, South African type
  • Protoporphyrinogen oxidase deficiency
  • PPOX deficiency
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Variegate porphyria
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Variegate porphyria is a form of 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.[1][2] The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase.[3] Acute attacks are managed and may be prevented as in acute intermittent porphyria.[1]



References
  1. Variegate Porphyria (VP). American Porphyria Foundation. 2010 Available at: http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP. Accessed July 19, 2010.
  2. Porphyria, Variegate. National Organization for Rare Disorders (NORD). 2001 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Porphyria%2C%20Variegate. Accessed July 19, 2010.
  3. Porphyria. Genetics Home Reference (GHR). 2009 Available at: http://ghr.nlm.nih.gov/condition=porphyria. Accessed July 19, 2010.
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For more information about Variegate porphyria click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 9 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • Genetics Home Reference (GHR) contains information on Variegate porphyria. Click on the link to go to GHR and review the information.
    • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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.
    • 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.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Variegate porphyria. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • 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.
  • Management Guidelines

    • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®.  Click the "document" link above to view these guidelines.
 Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites
Organizations (Found 9 resources)
Groups providing a wide range of services, supportive resources, and information.

  • Disease-Specific Organizations

  • Umbrella Organizations

    • American Association for the Study of Liver Diseases
      1001 North Fairfax, Suite 400
      Alexandria, VA 22314
      Phone: 703–299–9766
      Fax: 703–299–9622
      Email: aasld@aasld.org
      Internet: www.aasld.org
    • American Liver Foundation
      39 Broadway, Suite 2700
      New York, NY 10006
      Helpline (24 hours, 7 days a week): 1-800-465-4837 or 1-888-443-7222
      Telephone: 1-800-676-9340 or 212-668-1000
      Fax: 212-483-8179
      E-mail: info@liverfoundation.org
      Web site: www.liverfoundation.org
    • Genetic Alliance
      4301 Connecticut Avenue NW
      Suite 404
      Washington, DC 20008-2369
      Telephone: 202-966-5557
      Fax: 202-966-8553
      E-mail: info@geneticalliance.org
      Web site: http://www.geneticalliance.org
    • National Organization for Rare Disorders (NORD)
      55 Kenosia Avenue
      PO Box 1968
      Danbury, CT 06813-1968
      Toll-free: 1-800-999-6673 (voicemail only)
      Telephone: 203-744-0100
      TTY: 203-797-9590
      Fax: 203-798-2291
      E-mail: orphan@rarediseases.org
      Web site: http://www.rarediseases.org/
  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
 Testing | Parent Resources
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 Upcoming Conferences | Past Conferences
Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • Society for Inherited Metabolic Disorders Annual Meeting, August 29, 2009 - September 2, 2009
      Location: Manchester Grand Hyatt, San Diego, CA
      Description: The rarity, uniqueness, variability, and the need for an individual approach to treatment make inborn errors of metabolism a very complicated subspecialty. As such, most geneticists do not know these disorders well and only very specialized metabolic centers deal with them. For the United States to remain preeminent in both clinical and research aspects of inborn errors of metabolism, it is critical that young physicians and scientists be attracted to and remain in this important field.
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials.

    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

      For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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