← 返回搜尋

Familial hemophagocytic lymphohistiocytosis

ORPHA:540 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(12)

  • Abnormal circulating cytokine concentrationHP:0011112
  • Abnormality of multiple cell lineages in the bone marrowHP:0012145
  • Abnormality of tumor necrosis factor secretionHP:0011118
  • AnemiaHP:0001903
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • FeverHP:0001945
  • HemophagocytosisHP:0012156
  • HypoalbuminemiaHP:0003073
  • Immune dysregulationHP:0002958
  • Increased circulating ferritin concentrationHP:0003281
  • Increased circulating interferon-gamma concentrationHP:0030356
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(20)

  • Abnormal natural killer cell physiologyHP:0012177
  • Abnormal renal physiologyHP:0012211
  • Abnormal skin morphologyHP:0011121
  • Abnormality of the coagulation cascadeHP:0003256
  • Abnormality of the respiratory systemHP:0002086
  • Cholestatic liver diseaseHP:0002611
  • CSF pleocytosisHP:0012229
  • Decreased liver functionHP:0001410
  • Decreased total neutrophil countHP:0001875
  • EcchymosisHP:0031364
  • ErythrodermaHP:0001019
  • HepatomegalyHP:0002240
  • HypertriglyceridemiaHP:0002155
  • HypofibrinogenemiaHP:0011900
  • Increased circulating interleukin 6 concentrationHP:0030783
  • LymphadenopathyHP:0002716
  • PetechiaeHP:0000967
  • PurpuraHP:0000979
  • Skin rashHP:0000988
  • SplenomegalyHP:0001744

Occasional (29-5%)(12)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of the nervous systemHP:0000707
  • Bruising susceptibilityHP:0000978
  • ColitisHP:0002583
  • ComaHP:0001259
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Functional motor deficitHP:0004302
  • Infectious encephalitisHP:0002383
  • JaundiceHP:0000952
  • Maculopapular exanthemaHP:0040186
  • Peripheral neuropathyHP:0009830
  • SeizureHP:0001250

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

  • Sensorineural hearing impairmentHP:0000407