Pseudoxanthoma Elasticum (PXE)

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Pseudoxanthoma Elasticum (PXE) is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

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

MD Support - The Eyes of the Macular Degeneration Community

3600 Blue Ridge Blvd
Grandview, MO 64030
Tel: (816)761-7080
Fax: (816)761-7080

NIH/National Eye Institute

31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267

National Association for Pseudoxanthoma Elasticum

8760 Manchester Road
St. Louis, MO 63144-2724
Tel: (314)962-0100
Fax: (314)962-0100

PXE International, Inc.

4301 Connecticut Ave NW
Suite 404
Washington, DC 20008-2304
Tel: (202)362-9599
Fax: (202)966-8553

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to 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.

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.

Last Updated:  5/14/2015
Copyright  2015 National Organization for Rare Disorders, Inc.