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Farber disease

ORPHA:333 · Disease · Disorder

HPO 表現型（共 70 項）

Very frequent (99-80%)(6)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • ArthritisHP:0001369
  • Flexion contractureHP:0001371
  • Hoarse voiceHP:0001609
  • Joint swellingHP:0001386
  • Periarticular subcutaneous nodulesHP:0007470

Frequent (79-30%)(13)

  • Abnormal skeletal morphologyHP:0011842
  • Abnormality of the nervous systemHP:0000707
  • Abnormality of the respiratory systemHP:0002086
  • ArthralgiaHP:0002829
  • Atypical behaviorHP:0000708
  • Cherry red spot of the maculaHP:0010729
  • CNS foam cellsHP:0003640
  • EMG: chronic denervation signsHP:0003444
  • Failure to thriveHP:0001508
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Hoarse cryHP:0001615
  • Intellectual disabilityHP:0001249

Occasional (29-5%)(33)

  • Abnormal conjunctiva morphologyHP:0000502
  • Abnormal epiglottis morphologyHP:0005483
  • Abnormal foot morphologyHP:0001760
  • Abnormal larynx morphologyHP:0025423
  • Abnormal sternum morphologyHP:0000766
  • Abnormality of the elbowHP:0009811
  • Abnormality of the handHP:0001155
  • Abnormality of the kneeHP:0002815
  • Abnormality of the wristHP:0003019
  • AtelectasisHP:0100750
  • Brain atrophyHP:0012444
  • Corneal opacityHP:0007957
  • Developmental regressionHP:0002376
  • Diffuse reticular or finely nodular infiltrationsHP:0002207
  • DysphoniaHP:0001618
  • Feeding difficultiesHP:0011968
  • HepatosplenomegalyHP:0001433
  • Laryngeal stridorHP:0006511
  • Macular degenerationHP:0000608
  • MutismHP:0002300
  • MyoclonusHP:0001336
  • Nodular pattern on pulmonary HRCTHP:0025392
  • OsteoporosisHP:0000939
  • Recurrent feverHP:0001954
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Respiratory distressHP:0002098
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • SpasticityHP:0001257
  • Visual fixation instabilityHP:0025405
  • Weak cryHP:0001612

Very rare (<4-1%)(18)

  • Abnormal facial shapeHP:0001999
  • AnemiaHP:0001903
  • AscitesHP:0001541
  • Chronic diarrheaHP:0002028
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Hepatic failureHP:0001399
  • Hepatic fibrosisHP:0001395
  • Hydrops fetalisHP:0001789
  • Infantile spasmsHP:0012469
  • Intrahepatic cholestasis with episodic jaundiceHP:0006575
  • Loss of voiceHP:0001686
  • LymphadenopathyHP:0002716
  • NystagmusHP:0000639
  • Opacification of the corneal stromaHP:0007759
  • ParaparesisHP:0002385
  • Short fingerHP:0009381
  • Short toeHP:0001831
  • ThrombocytopeniaHP:0001873