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Pseudoxanthoma elasticum

ORPHA:758 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(10)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cerebral vascular morphologyHP:0100659
  • Abnormality of the skinHP:0000951
  • Angioid streaksHP:0001102
  • Arterial stenosisHP:0100545
  • Excessive wrinkled skinHP:0007392
  • Lack of skin elasticityHP:0100679
  • Retinal hemorrhageHP:0000573
  • RetinopathyHP:0000488
  • Thickened nuchal skin foldHP:0000474

Frequent (79-30%)(6)

  • Bruising susceptibilityHP:0000978
  • Hyperpigmented papuleHP:0025473
  • Intermittent claudicationHP:0004417
  • Redundant skinHP:0001582
  • Retinal peau d'orangeHP:0033027
  • Striae distensaeHP:0001065

Occasional (29-5%)(25)

  • Abnormal endocardium morphologyHP:0004306
  • Abnormal thorax morphologyHP:0000765
  • Abnormality of thrombocytesHP:0001872
  • Angina pectorisHP:0001681
  • Aortic valve stenosisHP:0001650
  • Blue scleraeHP:0000592
  • Cerebral calcificationHP:0002514
  • Choroidal neovascularizationHP:0011506
  • Gastrointestinal hemorrhageHP:0002239
  • Hyperextensible skinHP:0000974
  • HypertensionHP:0000822
  • Joint hypermobilityHP:0001382
  • MetamorphopsiaHP:0012508
  • Mitral valve prolapseHP:0001634
  • Multiple lipomasHP:0001012
  • NephrocalcinosisHP:0000121
  • Postural instabilityHP:0002172
  • Renovascular hypertensionHP:0100817
  • Restrictive cardiomyopathyHP:0001723
  • StrokeHP:0001297
  • Subcutaneous noduleHP:0001482
  • Sudden cardiac deathHP:0001645
  • Telangiectasia of the skinHP:0100585
  • Transient ischemic attackHP:0002326
  • Visual impairmentHP:0000505