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Autoimmune polyendocrinopathy type 1

ORPHA:3453 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(9)

  • Abnormal cerebral vascular morphologyHP:0100659
  • Abnormal circulating calcium-phosphate regulating hormone concentrationHP:0100530
  • Adrenal hyperplasiaHP:0008221
  • AutoimmunityHP:0002960
  • Decreased circulating aldosterone concentrationHP:0004319
  • HypoparathyroidismHP:0000829
  • Increased circulating cortisol levelHP:0003118
  • Primary adrenal insufficiencyHP:0008207
  • Recurrent mucocutaneous candidiasisHP:0002728

Frequent (79-30%)(12)

  • Anti-21-hydroxylase antibody positivityHP:0034071
  • Anti-side-chain cleavage enzyme antibody positivityHP:0034055
  • CataractHP:0000518
  • Decreased circulating vitamin B12 concentrationHP:0100502
  • Ectodermal dysplasiaHP:0000968
  • Enamel hypoplasiaHP:0006297
  • Hyperpigmentation of the skinHP:0000953
  • KeratoconjunctivitisHP:0001096
  • Opacification of the corneal stromaHP:0007759
  • PhotophobiaHP:0000613
  • Premature ovarian insufficiencyHP:0008209
  • Type I diabetes mellitusHP:0100651

Occasional (29-5%)(17)

  • AlopeciaHP:0001596
  • AspleniaHP:0001746
  • Atrophic gastritisHP:0002582
  • Corneal ulcerationHP:0012804
  • Hashimoto thyroiditisHP:0000872
  • HepatitisHP:0012115
  • HypogonadismHP:0000135
  • Hypopigmented skin patchesHP:0001053
  • Interstitial pneumonitisHP:0006515
  • MalabsorptionHP:0002024
  • Nail dystrophyHP:0008404
  • NephritisHP:0000123
  • Optic atrophyHP:0000648
  • Primary testicular failureHP:0008720
  • Reduced visual acuityHP:0007663
  • UveitisHP:0000554
  • VitiligoHP:0001045