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Late-onset isolated ACTH deficiency

ORPHA:199299 · Disease · Disorder

HPO 表現型（共 41 項）

Obligate (100%)(3)

  • Adrenocorticotropic hormone deficiencyHP:0011748
  • Adrenocorticotropin deficient adrenal insufficiencyHP:0011735
  • Decreased circulating cortisol levelHP:0008163

Very frequent (99-80%)(13)

  • Abdominal painHP:0002027
  • AnorexiaHP:0002039
  • AutoimmunityHP:0002960
  • ConstipationHP:0002019
  • Decreased circulating ACTH concentrationHP:0002920
  • DiarrheaHP:0002014
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • HypotensionHP:0002615
  • LethargyHP:0001254
  • Muscle weaknessHP:0001324
  • Nausea and vomitingHP:0002017
  • Weight lossHP:0001824

Frequent (79-30%)(9)

  • Graves diseaseHP:0100647
  • Hashimoto thyroiditisHP:0000872
  • HyperuricemiaHP:0002149
  • HyponatremiaHP:0002902
  • Low-grade feverHP:0011134
  • Macrocytic anemiaHP:0001972
  • Normocytic anemiaHP:0001897
  • Premature ovarian insufficiencyHP:0008209
  • Type I diabetes mellitusHP:0100651

Occasional (29-5%)(13)

  • ArthralgiaHP:0002829
  • Celiac diseaseHP:0002608
  • Dry skinHP:0000958
  • Generalized bone demineralizationHP:0006462
  • HepatitisHP:0012115
  • HypercalcemiaHP:0003072
  • HypoglycemiaHP:0001943
  • HypoparathyroidismHP:0000829
  • Increased total eosinophil countHP:0001880
  • Orthostatic hypotensionHP:0001278
  • SeizureHP:0001250
  • VertigoHP:0002321
  • VitiligoHP:0001045

Very rare (<4-1%)(2)

  • Pituitary adenomaHP:0002893
  • SepsisHP:0100806

Excluded (0%)(1)

  • HyperkalemiaHP:0002153