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Tay-Sachs disease

ORPHA:845 · Disease · Disorder

HPO 表現型（共 69 項）

Very frequent (99-80%)(6)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormality of glycolipid metabolismHP:0010969
  • GM2-ganglioside accumulationHP:0003495
  • Muscle weaknessHP:0001324
  • Progressive spasticityHP:0002191
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(24)

  • Abnormal thalamic MRI signal intensityHP:0012696
  • Aspiration pneumoniaHP:0011951
  • Atypical behaviorHP:0000708
  • Cherry red spot of the maculaHP:0010729
  • ClumsinessHP:0002312
  • Developmental regressionHP:0002376
  • Difficulty climbing stairsHP:0003551
  • Distal muscle weaknessHP:0002460
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • FasciculationsHP:0002380
  • Frequent fallsHP:0002359
  • Gait disturbanceHP:0001288
  • GliosisHP:0002171
  • HyperreflexiaHP:0001347
  • Hypointensity of cerebral white matter on MRIHP:0007103
  • IncoordinationHP:0002311
  • Lower limb muscle weaknessHP:0007340
  • Muscle spasmHP:0003394
  • Poor fine motor coordinationHP:0007010
  • Postural instabilityHP:0002172
  • Quadriceps muscle atrophyHP:0009050
  • Short attention spanHP:0000736
  • Visual impairmentHP:0000505

Occasional (29-5%)(33)

  • Abnormality of eye movementHP:0000496
  • Absent speechHP:0001344
  • Ankle clonusHP:0011448
  • AnxietyHP:0000739
  • BlindnessHP:0000618
  • Cerebellar atrophyHP:0001272
  • DepressionHP:0000716
  • Distal upper limb muscle weaknessHP:0008959
  • DroolingHP:0002307
  • DysmetriaHP:0001310
  • DystoniaHP:0001332
  • Exaggerated startle responseHP:0002267
  • Focal impaired awareness seizureHP:0002384
  • Functional motor deficitHP:0004302
  • Gastrostomy tube feeding in infancyHP:0011471
  • Generalized hypotoniaHP:0001290
  • Global brain atrophyHP:0002283
  • Hip flexor weaknessHP:0012515
  • Inability to walkHP:0002540
  • Laryngeal dystoniaHP:0012049
  • Limited elbow extensionHP:0001377
  • Limited knee extensionHP:0003066
  • ManiaHP:0100754
  • Memory impairmentHP:0002354
  • MyoclonusHP:0001336
  • Optic atrophyHP:0000648
  • Progressive macrocephalyHP:0004481
  • PsychosisHP:0000709
  • SeizureHP:0001250
  • Speech articulation difficultiesHP:0009088
  • TremorHP:0001337
  • Typical absence seizureHP:0011147
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(5)

  • Decerebrate rigidityHP:0025013
  • Elevated circulating beta-hexosaminidase activityHP:0003333
  • Hearing impairmentHP:0000365
  • Precocious pubertyHP:0000826
  • Vegetative stateHP:0031358

Excluded (0%)(1)

  • HepatosplenomegalyHP:0001433