Pseudoxanthoma Elasticum (PXE)
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pseudoxanthoma Elasticum (PXE) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Pseudoxanthoma elasticum, PXE, is an inherited disorder caused by mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium is deposited in the tissue. This can result in changes in the skin, eyes, cardiovascular system, and gastrointestinal system. Clinicians first recognized PXE more than 100 years ago. Researchers have made a number of significant advances in the past few years.
Genetic and Rare Diseases (GARD) Information Center
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MD Support - The Eyes of the Macular Degeneration Community
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NIH/National Heart, Lung and Blood Institute
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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National Association for Pseudoxanthoma Elasticum
- 8760 Manchester Road
- St. Louis, MO 63144-2724
- Tel: (314)962-0100
- Fax: (314)962-0100
- Email: NAPEStLouis@sbcglobal.net
- Website: http://www.pxenape.org/
PXE International, Inc.
- 4301 Connecticut Ave NW
- Suite 404
- Washington, DC 20008-2304
- Tel: (202)362-9599
- Fax: (202)966-8553
- Email: email@example.com
- Website: http://www.pxe.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/8/1970
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