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Cushing disease

ORPHA:96253 · Disease · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(4)

  • Increased circulating cortisol levelHP:0003118
  • Increased urinary cortisol levelHP:0012030
  • Paradoxical increased cortisol secretion on dexamethasone suppression testHP:0003466
  • Pituitary corticotropic cell adenomaHP:0008291

Frequent (79-30%)(32)

  • Abdominal obesityHP:0012743
  • Abnormality of the cardiovascular systemHP:0001626
  • AcneHP:0001061
  • Adrenal hyperplasiaHP:0008221
  • AmenorrheaHP:0000141
  • Atypical behaviorHP:0000708
  • Bruising susceptibilityHP:0000978
  • Capillary fragilityHP:0025017
  • Decreased total eosinophil countHP:0031891
  • Decreased total lymphocyte countHP:0001888
  • Diabetes mellitusHP:0000819
  • Dorsocervical fat padHP:0025383
  • Emotional labilityHP:0000712
  • Fatiguable weakness of proximal limb musclesHP:0030200
  • HirsutismHP:0001007
  • Hyperpigmentation of the skinHP:0000953
  • HypertensionHP:0000822
  • ImmunodeficiencyHP:0002721
  • Impaired glucose toleranceHP:0040270
  • Increased body weightHP:0004324
  • Increased circulating ACTH levelHP:0003154
  • Increased total leukocyte countHP:0001974
  • Intra-oral hyperpigmentationHP:0010284
  • Moon faciesHP:0500011
  • Muscle weaknessHP:0001324
  • OsteoporosisHP:0000939
  • PlethoraHP:0001050
  • Poor wound healingHP:0001058
  • Proximal amyotrophyHP:0007126
  • Striae distensaeHP:0001065
  • Thin skinHP:0000963
  • Truncal obesityHP:0001956

Occasional (29-5%)(20)

  • Abnormal libidoHP:0031845
  • Abnormality of the respiratory systemHP:0002086
  • DepressionHP:0000716
  • EcchymosisHP:0031364
  • FlushingHP:0031284
  • HeadacheHP:0002315
  • Large sella turcicaHP:0002690
  • Livedo reticularisHP:0033505
  • Memory impairmentHP:0002354
  • Myocardial infarctionHP:0001658
  • OligomenorrheaHP:0000876
  • Psychotic episodesHP:0000725
  • PurpuraHP:0000979
  • Recurrent cutaneous fungal infectionsHP:0011370
  • Secondary amenorrheaHP:0000869
  • Skin ulcerHP:0200042
  • Sparse scalp hairHP:0002209
  • StrokeHP:0001297
  • Suicidal ideationHP:0031589
  • Vertebral compression fractureHP:0002953

Very rare (<4-1%)(8)

  • Avascular necrosisHP:0010885
  • DementiaHP:0000726
  • Optic nerve compressionHP:0007807
  • Panic attackHP:0025269
  • ParanoiaHP:0011999
  • Pedal edemaHP:0010741
  • PsychosisHP:0000709
  • Visual field defectHP:0001123