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Pseudoxanthoma Elasticum (PXE)

Pseudoxanthoma Elasticum (PXE)


Contact: Genetic Alliance Australia
Tel: 61 2 9295 8359
Email: info@geneticalliance.org.au
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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/

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C/- Garvan Institute of Medical Research
Level 6, 384 Victoria Street
Darlinghurst ,  NSW   2010

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