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Addison disease

ORPHA:85138 · Disease · Disorder

HPO 表現型（共 62 項）

Obligate (100%)(2)

  • Decreased circulating cortisol levelHP:0008163
  • Primary adrenal insufficiencyHP:0008207

Very frequent (99-80%)(13)

  • Abdominal painHP:0002027
  • AnorexiaHP:0002039
  • AutoimmunityHP:0002960
  • ConstipationHP:0002019
  • DiarrheaHP:0002014
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • Hyperpigmentation of the skinHP:0000953
  • HypotensionHP:0002615
  • Increased circulating ACTH levelHP:0003154
  • Muscle weaknessHP:0001324
  • Nausea and vomitingHP:0002017
  • Weight lossHP:0001824

Frequent (79-30%)(22)

  • Abnormality of the axillary hairHP:0100134
  • Abnormality of the pubic hairHP:0100133
  • Androgen insufficiencyHP:0008226
  • Anti-21-hydroxylase antibody positivityHP:0034071
  • Anti-side-chain cleavage enzyme antibody positivityHP:0034055
  • Anti-steroid 17alpha-hydroxylase antibody positivityHP:0034061
  • AstheniaHP:0025406
  • Decreased circulating aldosterone concentrationHP:0004319
  • Decreased circulating dehydroepiandrosterone concentrationHP:0031214
  • Decreased urinary potassiumHP:0012364
  • DehydrationHP:0001944
  • Failure to thrive in infancyHP:0001531
  • HyperkalemiaHP:0002153
  • Hyperkalemic metabolic acidosisHP:0005976
  • HyperuricemiaHP:0002149
  • HyponatremiaHP:0002902
  • Increased circulating renin concentrationHP:0000848
  • MalaiseHP:0033834
  • Normocytic anemiaHP:0001897
  • Progressive hyperpigmentationHP:0007505
  • Renal salt wastingHP:0000127
  • TachycardiaHP:0001649

Occasional (29-5%)(22)

  • Adrenal calcificationHP:0010512
  • Adrenal hypoplasiaHP:0000835
  • AlopeciaHP:0001596
  • ArthralgiaHP:0002829
  • Celiac diseaseHP:0002608
  • Decreased female libidoHP:0030018
  • Decreased libidoHP:0046504
  • Delayed pubertyHP:0000823
  • Dry skinHP:0000958
  • Generalized bone demineralizationHP:0006462
  • Hashimoto thyroiditisHP:0000872
  • HypercalcemiaHP:0003072
  • HypoglycemiaHP:0001943
  • HypoparathyroidismHP:0000829
  • Orthostatic hypotensionHP:0001278
  • Premature ovarian insufficiencyHP:0008209
  • Salt cravingHP:0030083
  • SeizureHP:0001250
  • Sparse axillary hairHP:0002215
  • Type I diabetes mellitusHP:0100651
  • VertigoHP:0002321
  • VitiligoHP:0001045

Very rare (<4-1%)(3)

  • Primary testicular failureHP:0008720
  • Thiamine-responsive megaloblastic anemiaHP:0004860
  • ThymomaHP:0100522