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Genetic recurrent myoglobinuria

ORPHA:99845 · Disease · Disorder

HPO 表現型（共 32 項）

Obligate (100%)(1)

  • Recurrent myoglobinuriaHP:0003652

Very frequent (99-80%)(4)

  • Dark urineHP:0040319
  • FeverHP:0001945
  • Highly elevated creatine kinaseHP:0030234
  • Muscle weaknessHP:0001324

Frequent (79-30%)(11)

  • Abnormality of glycolipid metabolismHP:0010969
  • Diminished deep tendon reflexHP:0001315
  • Elevated circulating aldolase concentrationHP:0012544
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Exercise-induced myalgiaHP:0003738
  • Exercise-induced myoglobinuriaHP:0008305
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • MyositisHP:0100614
  • Renal insufficiencyHP:0000083
  • Type 2 muscle fiber atrophyHP:0003554
  • Viral infection-induced rhabdomyolysisHP:0003558

Occasional (29-5%)(15)

  • Abnormal speech patternHP:0002167
  • Abnormality of jaw musclesHP:0045037
  • Acute kidney injuryHP:0001919
  • ArrhythmiaHP:0011675
  • Fatigable weakness of swallowing musclesHP:0030195
  • Gait disturbanceHP:0001288
  • HyperkalemiaHP:0002153
  • HyperphosphatemiaHP:0002905
  • HypocalcemiaHP:0002901
  • Impaired masticationHP:0005216
  • Lower limb muscle weaknessHP:0007340
  • Muscle spasmHP:0003394
  • Neck muscle weaknessHP:0000467
  • OliguriaHP:0100520
  • Proximal upper limb muscle weaknessHP:0008997

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

  • Disseminated intravascular coagulationHP:0005521