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Pancreatic triacylglycerol lipase deficiency

ORPHA:309031 · Disease · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(10)

  • Abdominal distentionHP:0003270
  • Abdominal painHP:0002027
  • Decreased circulating vitamin D concentrationHP:0100512
  • Decreased circulating vitamin E concentrationHP:0100513
  • Decreased circulating vitamin K concentrationHP:0011892
  • Exocrine pancreatic insufficiencyHP:0001738
  • FatigueHP:0012378
  • Reduced circulating vitamin A concentrationHP:0004905
  • SteatorrheaHP:0002570
  • Weight lossHP:0001824

Occasional (29-5%)(8)

  • DiarrheaHP:0002014
  • Growth delayHP:0001510
  • HemeralopiaHP:0012047
  • Iron deficiency anemiaHP:0001891
  • Keratoconjunctivitis siccaHP:0001097
  • OsteomalaciaHP:0002749
  • OsteoporosisHP:0000939
  • RicketsHP:0002748

Very rare (<4-1%)(3)

  • Abnormality of the nervous systemHP:0000707
  • ColitisHP:0002583
  • EdemaHP:0000969