Call Us: +61 2 9295 8359
Follow Us:

Pseudoxanthoma Elasticum (PXE)

Pseudoxanthoma Elasticum (PXE)


Contact: Genetic Alliance Australia
Tel: 61 2 9295 8359
Email: info@geneticalliance.org.au
Website Click here
More info: C/- The Garvan Institute of Medical Research Level 6, 384 Victoria St Darlinghurst NSW 2010
About: Pseudoxanthoma elasticum is an inherited condition that affects selected connective tissue in some parts of the body. Elastic tissue in the body becomes mineralised; that is, calcium and other minerals (calcifications) are deposited in the tissue. The severity of the condition may be highly variable from one person to the next. Symptoms include skin changes, changes in the retina of the eye that may result in significant loss of central vision, changes in the cardiovascular system that may involve calcification of arteries and decreased blood flow in the arms and legs, and bleeding in the stomach or intestines. Some people have no skin lesions; others have no vision loss. Many people do not experience gastrointestinal complications or cardiovascular difficulties. Pseudoxanthoma elasticum may follow one of two patterns of inheritance in families - either autosomal dominant or autosomal recessive. Autosomal recessive forms of the condition are by far the most common. Pseudoxanthoma elasticum is caused by a faulty copy of the ABCC6 gene. This gene is located on the short ā€˜pā€™ arm of chromosome 16, in the region called 16p13.1.
Useful links: PXE International https://www.pxe.org/

Latest Tweets

Our mission statement

To facilitate support for those affected directly or indirectly by genetic conditions throughout Australasia.

make a donation
Help Support Genetic Alliance Australia

Click on Bert, the Genetic Alliance Frog - to make a donation. All donations over $2 are tax deductible.
ABN  83 594 113 193  |  ACN 168918625  |   Registered Charity CFN  15481

We are members of
Supported by
Quick Links
Contact Us

Level 6
384 Victoria Street
Darlinghurst ,  NSW   2010


Connect with us
Registered Charity
© 2021 Genetic Alliance Australia. All right reserved.   |   Disclaimer & Privacy Policy
+61 2 9295 8359