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Wolcott-Rallison syndrome

ORPHA:1667 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(5)

  • Abnormality of the liverHP:0001392
  • Growth delayHP:0001510
  • Neonatal insulin-dependent diabetes mellitusHP:0000857
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(7)

  • Acute hepatic failureHP:0006554
  • Decreased body weightHP:0004325
  • Decreased total neutrophil countHP:0001875
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • HypoalbuminemiaHP:0003073
  • Metaphyseal dysplasiaHP:0100255
  • Multiple epiphyseal dysplasiaHP:0002654

Occasional (29-5%)(23)

  • Brain imaging abnormalityHP:0410263
  • Central hypothyroidismHP:0011787
  • Chronic kidney diseaseHP:0012622
  • DehydrationHP:0001944
  • Exocrine pancreatic insufficiencyHP:0001738
  • FeverHP:0001945
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • HyperammonemiaHP:0001987
  • HyperbilirubinemiaHP:0002904
  • HypothyroidismHP:0000821
  • Increased total lymphocyte countHP:0100827
  • Intellectual disabilityHP:0001249
  • Iron deficiency anemiaHP:0001891
  • JaundiceHP:0000952
  • KetoacidosisHP:0001993
  • MicrocephalyHP:0000252
  • Muscle weaknessHP:0001324
  • Recurrent infectionsHP:0002719
  • Renal insufficiencyHP:0000083
  • SeizureHP:0001250
  • StrabismusHP:0000486

Very rare (<4-1%)(5)

  • AscitesHP:0001541
  • Atrial septal defectHP:0001631
  • Double outlet right ventricleHP:0001719
  • Hepatic encephalopathyHP:0002480
  • HyponatremiaHP:0002902