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Chédiak-Higashi syndrome

ORPHA:167 · Disease · Disorder

HPO 表現型（共 76 項）

Very frequent (99-80%)(8)

  • Abnormal leukocyte morphologyHP:0001881
  • Abnormality of multiple cell lineages in the bone marrowHP:0012145
  • HemophagocytosisHP:0012156
  • Hypopigmentation of the skinHP:0001010
  • Increased CD25+ mast cell proportionHP:0031408
  • Recurrent bacterial infectionsHP:0002718
  • Recurrent infectionsHP:0002719
  • Vacuolated lymphocytesHP:0001922

Frequent (79-30%)(24)

  • Abnormal bleedingHP:0001892
  • Abnormal natural killer cell morphologyHP:0012176
  • Abnormal neutrophil physiologyHP:0011990
  • Abnormal platelet functionHP:0011869
  • Abnormal retinal pigmentationHP:0007703
  • Bruising susceptibilityHP:0000978
  • Cutaneous photosensitivityHP:0000992
  • Decreased liver functionHP:0001410
  • FeverHP:0001945
  • HepatosplenomegalyHP:0001433
  • Hypopigmentation of hairHP:0005599
  • ImmunodeficiencyHP:0002721
  • Increased circulating ferritin concentrationHP:0003281
  • Iris hypopigmentationHP:0007730
  • Large clumps of pigment irregularly distributed along hair shaftHP:0004527
  • PeriodontitisHP:0000704
  • PhotophobiaHP:0000613
  • Recurrent bacterial skin infectionsHP:0005406
  • Recurrent respiratory infectionsHP:0002205
  • Recurrent staphylococcal infectionsHP:0007499
  • Recurrent streptococcal infectionsHP:0020096
  • Reduced visual acuityHP:0007663
  • Rotary nystagmusHP:0001583
  • SplenomegalyHP:0001744

Occasional (29-5%)(43)

  • Abnormality of the nervous systemHP:0000707
  • AnemiaHP:0001903
  • AtaxiaHP:0001251
  • Atrophy of alveolar ridgesHP:0006308
  • Atrophy of the spinal cordHP:0006827
  • Brain atrophyHP:0012444
  • Cerebellar atrophyHP:0001272
  • Cognitive impairmentHP:0100543
  • Cranial nerve paralysisHP:0006824
  • Decreased nerve conduction velocityHP:0000762
  • Decreased total neutrophil countHP:0001875
  • DementiaHP:0000726
  • EdemaHP:0000969
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • EpistaxisHP:0000421
  • Gait disturbanceHP:0001288
  • Gingival bleedingHP:0000225
  • Horizontal nystagmusHP:0000666
  • HypertriglyceridemiaHP:0002155
  • HypofibrinogenemiaHP:0011900
  • HyponatremiaHP:0002902
  • HypoproteinemiaHP:0003075
  • Inability to walkHP:0002540
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Intellectual disabilityHP:0001249
  • JaundiceHP:0000952
  • LymphadenopathyHP:0002716
  • Motor polyneuropathyHP:0007178
  • Muscle weaknessHP:0001324
  • PancytopeniaHP:0001876
  • ParkinsonismHP:0001300
  • Pericardial effusionHP:0001698
  • Peripheral neuropathyHP:0009830
  • Pleural effusionHP:0002202
  • SeizureHP:0001250
  • Sensory neuropathyHP:0000763
  • Skin rashHP:0000988
  • Somatic sensory dysfunctionHP:0003474
  • Spastic paraplegiaHP:0001258
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486
  • ThrombocytopeniaHP:0001873
  • TremorHP:0001337

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

  • Spotty hyperpigmentationHP:0005585