Important 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.
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 USA Tel: (314)962-0100 Fax: (314)962-0100 Email: NAPEStLouis@sbcglobal.net Internet: http://www.pxenape.org/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NIAMSinfo@mail.nih.gov Internet: http://www.niams.nih.gov/
NIH/National Eye Institute 31 Center Dr MSC 2510 Bethesda, MD 20892-2510 United States Tel: (301)496-5248 Fax: (301)402-1065 Email: firstname.lastname@example.org Internet: http://www.nei.nih.gov/
NIH/National Heart, Lung and Blood Institute P.O. Box 30105 Bethesda, MD 20892-0105 Tel: (301)592-8573 Fax: (301)251-1223 Email: email@example.com Internet: http://www.nhlbi.nih.gov/
Coalition for Heritable Disorders of Connective Tissue (CHDCT) 4301 Connecticut Avenue, NW Suite 404 Washington, DC 20008 Tel: (202)362-9599 Fax: (202)966-8553 Tel: (800)778-7171 Email: firstname.lastname@example.org Internet: http://www.chdct2.org/
PXE International, Inc. 4301 Connecticut Ave NW Suite 404 Washington, DC 20008-2304 USA Tel: (202)362-9599 Fax: (202)966-8553 Email: email@example.com Internet: http://www.pxe.org
MD Support - The Eyes of the Macular Degeneration Community 3600 Blue Ridge Blvd Grandview, MO 64030 USA Tel: (816)761-7080 Fax: (816)761-7080 Email: firstname.lastname@example.org Internet: http://www.mdsupport.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.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".
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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.
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: 3/12/2012 Copyright 1986, 1988, 1990, 1991, 1997, 1998, 1999, 2000, 2009, 2012 National Organization for Rare Disorders, Inc.
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