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Refractory celiac disease

ORPHA:398063 · Disease · Disorder

HPO 表現型（共 28 項）

Obligate (100%)(1)

  • Villous atrophyHP:0011473

Very frequent (99-80%)(2)

  • Autoimmune antibody positivityHP:0030057
  • Increased HLA-DR+ CD4+ T cell proportionHP:0002853

Frequent (79-30%)(12)

  • Abdominal painHP:0002027
  • Chronic diarrheaHP:0002028
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • HypoalbuminemiaHP:0003073
  • HypoproteinemiaHP:0003075
  • Inflammatory abnormality of the skinHP:0011123
  • Iron deficiency anemiaHP:0001891
  • JejunitisHP:0033143
  • MalabsorptionHP:0002024
  • MalnutritionHP:0004395
  • Microcytic anemiaHP:0001935
  • Weight lossHP:0001824

Occasional (29-5%)(10)

  • Abnormal spleen physiologyHP:0025409
  • Abnormality of the nervous systemHP:0000707
  • ArthralgiaHP:0002829
  • Decreased circulating calcitriol concentrationHP:0012052
  • Elevated alkaline phosphatase of bone originHP:0010639
  • HypocalcemiaHP:0002901
  • HypomagnesemiaHP:0002917
  • HypophosphatemiaHP:0002148
  • OsteoporosisHP:0000939
  • Protein-losing enteropathyHP:0002243

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

  • LymphomaHP:0002665
  • Macrocytic anemiaHP:0001972
  • Normocytic anemiaHP:0001897