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GTR Home > Conditions/Phenotypes > Autosomal recessive inherited pseudoxanthoma elasticum


Excerpted from the GeneReview: Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.

Available tests

70 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7, ABCC6
    Summary: ATP binding cassette subfamily C member 6

  • Also known as: DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I, XYLT1
    Summary: xylosyltransferase 1

  • Also known as: PXYLT2, SOS, XT-II, XT2, xylT-II, XYLT2
    Summary: xylosyltransferase 2

Clinical features


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Suggested reading

  • Uitto et al., 2012
    Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting

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