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Hereditary sensory and autonomic neuropathy type 1

ORPHA:36386 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(6)

  • Abnormality of the autonomic nervous systemHP:0002270
  • Decreased amplitude of sensory action potentialsHP:0007078
  • Distal sensory impairmentHP:0002936
  • Gait imbalanceHP:0002141
  • Impaired ability to dress oneselfHP:0031060
  • Muscle weaknessHP:0001324

Frequent (79-30%)(13)

  • Distal muscle weaknessHP:0002460
  • Foot dorsiflexor weaknessHP:0009027
  • HyperkeratosisHP:0000962
  • Hypohidrosis or hyperhidrosisHP:0007550
  • Impaired distal tactile sensationHP:0006937
  • Impaired temperature sensationHP:0010829
  • Limb painHP:0009763
  • Pain insensitivityHP:0007021
  • Penetrating foot ulcersHP:0001026
  • Poor wound healingHP:0001058
  • Skin ulcerHP:0200042
  • Steppage gaitHP:0003376
  • Trophic changes related to painHP:0010834

Occasional (29-5%)(10)

  • CoughHP:0012735
  • Distal amyotrophyHP:0003693
  • EMG: slow motor conductionHP:0100287
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • Inability to walkHP:0002540
  • Motor axonal neuropathyHP:0007002
  • Neuropathic arthropathyHP:0002821
  • OsteomyelitisHP:0002754
  • Pathologic fractureHP:0002756