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Pantothenate kinase-associated neurodegeneration

ORPHA:157850 · Disease · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(8)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • ChoreoathetosisHP:0001266
  • DystoniaHP:0001332
  • Gait disturbanceHP:0001288
  • Loss of ambulationHP:0002505
  • Retinal degenerationHP:0000546
  • SpasticityHP:0001257
  • Visual impairmentHP:0000505

Frequent (79-30%)(21)

  • AbetalipoproteinemiaHP:0008181
  • Abnormality of eye movementHP:0000496
  • AcanthocytosisHP:0001927
  • Atypical behaviorHP:0000708
  • Bulbar signsHP:0002483
  • Craniofacial dystoniaHP:0012179
  • DysarthriaHP:0001260
  • Eye of the tiger anomaly of globus pallidusHP:0002454
  • Iron accumulation in substantia nigraHP:0012678
  • Leg dystoniaHP:0031959
  • Limb dystoniaHP:0002451
  • Limb painHP:0009763
  • Mental deteriorationHP:0001268
  • NyctalopiaHP:0000662
  • OsteopeniaHP:0000938
  • ParkinsonismHP:0001300
  • Peripheral visual field lossHP:0007994
  • Pigmentary retinopathyHP:0000580
  • Retinal flecksHP:0012045
  • RigidityHP:0002063
  • Rod-cone dystrophyHP:0000510

Occasional (29-5%)(28)

  • Abnormal speech patternHP:0002167
  • Attention deficit hyperactivity disorderHP:0007018
  • BlindnessHP:0000618
  • Bull's eye maculopathyHP:0011504
  • Compulsive behaviorsHP:0000722
  • DementiaHP:0000726
  • DepressionHP:0000716
  • Dysmetric vertical saccadesHP:0032014
  • Emotional labilityHP:0000712
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Impaired convergenceHP:0000619
  • ImpulsivityHP:0100710
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • Optic atrophyHP:0000648
  • PalilaliaHP:0031814
  • Pallidal degenerationHP:0007132
  • Recurrent long bone fracturesHP:0003084
  • Saccadic smooth pursuit interruptionsHP:0001152
  • Slurred speechHP:0001350
  • Speech articulation difficultiesHP:0009088
  • Square-wave jerksHP:0025402
  • TachylaliaHP:0031937
  • TicsHP:0100033
  • Tip-toe gaitHP:0030051
  • Toe extensor amyotrophyHP:0011916
  • Visual field defectHP:0001123

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

  • Intention tremorHP:0002080
  • Psychotic mentationHP:0001345
  • SeizureHP:0001250