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.
- Gronblad-Strandberg syndrome
- elastosis dystrophica syndrome (obsolete)
- systemic elastorrhexis (obsolete)
Pseudoxanthoma elasticum, PXE, is an inherited disorder caused y 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 and other minerals are 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.
National Association for Pseudoxanthoma Elasticum
8760 Manchester Road
St. Louis, MO 63144-2724
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
PXE International, Inc.
4301 Connecticut Ave NW
Washington, DC 20008-2304
MD Support - The Eyes of the Macular Degeneration Community
3600 Blue Ridge Blvd
Grandview, MO 64030
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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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.
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Last Updated: 3/12/2012
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