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Niemann-Pick disease type C

ORPHA:646 · Disease · Disorder

HPO 表現型（共 82 項）

Very frequent (99-80%)(10)

  • Abnormality of the liverHP:0001392
  • Atypical behaviorHP:0000708
  • DysphagiaHP:0002015
  • Gait disturbanceHP:0001288
  • HepatomegalyHP:0002240
  • JaundiceHP:0000952
  • Low cholesterol esterification rateHP:0003349
  • Mental deteriorationHP:0001268
  • Progressive neurologic deteriorationHP:0002344
  • Vertical supranuclear gaze palsyHP:0000511

Frequent (79-30%)(18)

  • Abnormal speech patternHP:0002167
  • Abnormality of mental functionHP:0011446
  • Abnormality of movementHP:0100022
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • AtaxiaHP:0001251
  • Axial dystoniaHP:0002530
  • Bone-marrow foam cellsHP:0004333
  • Cognitive impairmentHP:0100543
  • DysarthriaHP:0001260
  • DysphoniaHP:0001618
  • DystoniaHP:0001332
  • Feeding difficultiesHP:0011968
  • Foam cellsHP:0003651
  • Hearing impairmentHP:0000365
  • Limb dystoniaHP:0002451
  • Progressive gait ataxiaHP:0007240
  • SeizureHP:0001250
  • SplenomegalyHP:0001744

Occasional (29-5%)(41)

  • Abnormal CNS myelinationHP:0011400
  • Abnormal pyramidal signHP:0007256
  • Abnormal social behaviorHP:0012433
  • Aggressive behaviorHP:0000718
  • ApathyHP:0000741
  • Auditory hallucinationHP:0008765
  • CataplexyHP:0002524
  • Cerebellar vermis atrophyHP:0006855
  • Cerebral atrophyHP:0002059
  • ChoreaHP:0002072
  • ClumsinessHP:0002312
  • Compulsive behaviorsHP:0000722
  • Delayed speech and language developmentHP:0000750
  • DementiaHP:0000726
  • DepressionHP:0000716
  • Developmental regressionHP:0002376
  • DisinhibitionHP:0000734
  • Focal-onset seizureHP:0007359
  • Frequent fallsHP:0002359
  • Gastrostomy tube feeding in infancyHP:0011471
  • Generalized-onset seizureHP:0002197
  • Global developmental delayHP:0001263
  • HepatosplenomegalyHP:0001433
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Intention tremorHP:0002080
  • LeukodystrophyHP:0002415
  • Low frustration toleranceHP:0000744
  • Lower limb spasticityHP:0002061
  • Mongolian blue spotHP:0011369
  • MyoclonusHP:0001336
  • NarcolepsyHP:0030050
  • PsychosisHP:0000709
  • SchizophreniaHP:0100753
  • Sleep disturbanceHP:0002360
  • Specific learning disabilityHP:0001328
  • Speech apraxiaHP:0011098
  • TremorHP:0001337
  • Upper motor neuron dysfunctionHP:0002493
  • Visual hallucinationHP:0002367

Very rare (<4-1%)(13)

  • Abnormal lung morphologyHP:0002088
  • AscitesHP:0001541
  • Aspiration pneumoniaHP:0011951
  • Bipolar affective disorderHP:0007302
  • Demyelinating peripheral neuropathyHP:0007108
  • Fetal ascitesHP:0001791
  • Frontal cortical atrophyHP:0006913
  • Hepatic failureHP:0001399
  • Hydrops fetalisHP:0001789
  • Pulmonary infiltratesHP:0002113
  • Respiratory failureHP:0002878
  • Respiratory insufficiencyHP:0002093
  • Status epilepticusHP:0002133