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Lysosomal acid lipase deficiency

ORPHA:275761 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(19)

  • Abdominal distentionHP:0003270
  • Abdominal painHP:0002027
  • Adrenal calcificationHP:0010512
  • Cognitive impairmentHP:0100543
  • Decreased liver functionHP:0001410
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Fatal liver failure in infancyHP:0006583
  • Hepatic failureHP:0001399
  • Hepatic fibrosisHP:0001395
  • HepatosplenomegalyHP:0001433
  • HypercholesterolemiaHP:0003124
  • HypertriglyceridemiaHP:0002155
  • JaundiceHP:0000952
  • Microvesicular hepatic steatosisHP:0001414
  • Nausea and vomitingHP:0002017
  • SteatorrheaHP:0002570
  • Vacuolated lymphocytesHP:0001922
  • XanthomatosisHP:0000991

Frequent (79-30%)(7)

  • Coronary artery atherosclerosisHP:0001677
  • DiarrheaHP:0002014
  • Esophageal varixHP:0002040
  • Precocious atherosclerosisHP:0004416
  • StrokeHP:0001297
  • Weight lossHP:0001824
  • XanthelasmaHP:0001114

Occasional (29-5%)(23)

  • Abnormal urine potassium concentrationHP:0012598
  • AcidosisHP:0001941
  • AnemiaHP:0001903
  • AscitesHP:0001541
  • Bone-marrow foam cellsHP:0004333
  • CachexiaHP:0004326
  • DehydrationHP:0001944
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • HyperkalemiaHP:0002153
  • HypernatriuriaHP:0012605
  • HypersplenismHP:0001971
  • HyponatremiaHP:0002902
  • HypotensionHP:0002615
  • HypovolemiaHP:0011106
  • MalnutritionHP:0004395
  • Primary adrenal insufficiencyHP:0008207
  • PruritusHP:0000989
  • Psychomotor deteriorationHP:0002361
  • Pulmonary arterial hypertensionHP:0002092
  • Renal salt wastingHP:0000127
  • VomitingHP:0002013