GTR Home > Conditions/Phenotypes > Pseudoxanthoma elasticum

Disease characteristics

Excerpted from the GeneReview: Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals most commonly present with papules in the skin and/or with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Rarely, individuals may present with vascular signs and symptoms, such as gastrointestinal bleeding, angina, or intermittent claudication. The most frequent cause of morbidity and disability in PXE is reduced vision from macular hemorrhage and disciform scarring of the macula. Most affected individuals live a normal life span.

Associated genes

  • Also known as: ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7, ABCC6
    Summary: ATP-binding cassette, sub-family C (CFTR/MRP), member 6

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

  • Also known as: UNQ3058/PRO9878, PXYLT2, XT-II, XT2, xylT-II, XYLT2
    Summary: xylosyltransferase II

Clinical features

  • Macular degeneration
  • Accelerated atherosclerosis
  • Stroke
  • Restrictive cardiomyopathy
  • Decreased central vision
  • Renal insufficiency
  • Abnormality of the mouth
  • Retinal hemorrhage
  • Hypermelanotic macule
  • Angioid streaks of the retina
  • Mitral valve prolapse
  • Congestive heart failure
  • Angina pectoris
  • Mitral stenosis
  • Gastrointestinal hemorrhage
  • Intermittent claudication
  • Renovascular hypertension
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