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Scleromyxedema

ORPHA:167635 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(3)

  • Generalized abnormality of skinHP:0011354
  • PapuleHP:0200034
  • ParaproteinemiaHP:0031047

Frequent (79-30%)(14)

  • Abnormal forearm morphologyHP:0002973
  • Abnormality of the faceHP:0000271
  • Abnormality of the glabellaHP:0002056
  • Abnormality of the handHP:0001155
  • Abnormality of the neckHP:0000464
  • ArthralgiaHP:0002829
  • DysphagiaHP:0002015
  • Elevated circulating creatine kinase activityHP:0003236
  • MyopathyHP:0003198
  • Proximal muscle weaknessHP:0003701
  • SclerodactylyHP:0011838
  • Skin-colored papuleHP:0025512
  • Stiff skinHP:0030053
  • Thickened skinHP:0001072

Occasional (29-5%)(17)

  • Abnormal lung morphologyHP:0002088
  • Abnormal skeletal muscle morphologyHP:0011805
  • Abnormality of central nervous system electrophysiologyHP:0030178
  • Abnormality of the cardiovascular systemHP:0001626
  • Abnormality of the gastrointestinal tractHP:0011024
  • Abnormality of the kidneyHP:0000077
  • Aged leonine appearanceHP:0008509
  • Distal muscle weaknessHP:0002460
  • EncephalopathyHP:0001298
  • Exertional dyspneaHP:0002875
  • Gastroesophageal refluxHP:0002020
  • HypoperistalsisHP:0100771
  • MyalgiaHP:0003326
  • Narrow mouthHP:0000160
  • PruritusHP:0000989
  • Raynaud phenomenonHP:0030880
  • SeizureHP:0001250

Very rare (<4-1%)(6)

  • Abnormal coronary artery morphologyHP:0006704
  • Abnormal pulmonary artery morphologyHP:0030966
  • ComaHP:0001259
  • Multiple myelomaHP:0006775
  • StrokeHP:0001297
  • Transient ischemic attackHP:0002326

Excluded (0%)(1)

  • Abnormality of thyroid physiologyHP:0002926