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Cushing syndrome due to bilateral macronodular adrenocortical disease

ORPHA:189427 · Disease · Disorder

HPO 表現型(共 39 項)

Obligate (100%)(1)

  • Macronodular adrenal hyperplasiaHP:0008231

Very frequent (99-80%)(2)

  • Decreased circulating ACTH concentrationHP:0002920
  • Moon faciesHP:0500011

Frequent (79-30%)(21)

  • Abdominal obesityHP:0012743
  • Abnormal libidoHP:0031845
  • Abnormal response to corticotropin releasing hormone stimulation testHP:0031077
  • Bruising susceptibilityHP:0000978
  • DepressionHP:0000716
  • Dorsocervical fat padHP:0025383
  • Emotional labilityHP:0000712
  • Glucose intoleranceHP:0001952
  • HirsutismHP:0001007
  • HyperlipidemiaHP:0003077
  • HypertensionHP:0000822
  • Increased circulating cortisol levelHP:0003118
  • Increased urinary cortisol levelHP:0012030
  • Irregular menstruationHP:0000858
  • Kidney stoneHP:0000787
  • OsteoporosisHP:0000939
  • Paradoxical increased cortisol secretion on dexamethasone suppression testHP:0003466
  • PlethoraHP:0001050
  • Proximal amyotrophyHP:0007126
  • Proximal muscle weaknessHP:0003701
  • Striae distensaeHP:0001065

Occasional (29-5%)(8)

  • AcneHP:0001061
  • AlopeciaHP:0001596
  • Hepatic steatosisHP:0001397
  • Increased body weightHP:0004324
  • Increased susceptibility to fracturesHP:0002659
  • ManiaHP:0100754
  • Memory impairmentHP:0002354
  • Psychotic episodesHP:0000725

Very rare (<4-1%)(7)

  • Cognitive impairmentHP:0100543
  • Increased circulating aldosterone concentrationHP:0000859
  • MeningiomaHP:0002858
  • Neuroendocrine neoplasmHP:0100634
  • Pituitary adenomaHP:0002893
  • Primary hyperparathyroidismHP:0008200
  • Renal cell carcinomaHP:0005584