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Triple A syndrome

ORPHA:869 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(4)

  • AchalasiaHP:0002571
  • Adrenal insufficiencyHP:0000846
  • AlacrimaHP:0000522
  • Generalized hyperpigmentationHP:0007440

Frequent (79-30%)(14)

  • CoughHP:0012735
  • Decreased circulating cortisol levelHP:0008163
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Hypernasal speechHP:0001611
  • HypoglycemiaHP:0001943
  • Hypoglycemic seizuresHP:0002173
  • HypotensionHP:0002615
  • Impaired cortisol response to corticotropin releasing hormone stimulation testHP:0031078
  • Increased circulating ACTH levelHP:0003154
  • Palmoplantar keratodermaHP:0000982
  • Short statureHP:0004322
  • VomitingHP:0002013
  • Weight lossHP:0001824

Occasional (29-5%)(16)

  • Abnormality of the hypothenar eminenceHP:0010486
  • AtaxiaHP:0001251
  • Corneal ulcerationHP:0012804
  • Developmental regressionHP:0002376
  • HyperreflexiaHP:0001347
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Keratoconjunctivitis siccaHP:0001097
  • MicrocephalyHP:0000252
  • Motor axonal neuropathyHP:0007002
  • Optic atrophyHP:0000648
  • Pes cavusHP:0001761
  • Plantar hyperkeratosisHP:0007556
  • Respiratory insufficiencyHP:0002093
  • Sensorineural hearing impairmentHP:0000407
  • Visual impairmentHP:0000505

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

  • Decreased circulating aldosterone concentrationHP:0004319