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Pseudoxanthoma Elasticum

An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.

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Tree Number(s): C14.907.454.530, C15.378.463.515.530, C16.131.831.766, C16.320.850.750, C17.300.766, C17.800.804.766, C17.800.827.750

MeSH Unique ID: D011561

Entry Terms:

  • Gronblad-Strandberg Syndrome
  • Gronblad Strandberg Syndrome
  • Syndrome, Gronblad-Strandberg
  • Groenblad-Strandberg Syndrome
  • Pseudoxanthoma Elasticum, Incomplete
  • Elasticum, Incomplete Pseudoxanthoma
  • Elasticums, Incomplete Pseudoxanthoma
  • Incomplete Pseudoxanthoma Elasticum
  • Incomplete Pseudoxanthoma Elasticums
  • Pseudoxanthoma Elasticums, Incomplete
  • Pseudoxanthoma Elasticum, Forme Fruste
  • Pseudoxanthoma Elasticum, Autosomal Dominant

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