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Primary intestinal lymphangiectasia

ORPHA:90362 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(6)

  • Abnormal lymphatic vessel morphologyHP:0100766
  • AnemiaHP:0001903
  • Combined immunodeficiencyHP:0005387
  • EdemaHP:0000969
  • Functional abnormality of the gastrointestinal tractHP:0012719
  • Intestinal lymphangiectasiaHP:0002593

Frequent (79-30%)(9)

  • Abnormal small intestinal villus morphologyHP:0011472
  • Abnormality of vitamin metabolismHP:0100508
  • Chronic diarrheaHP:0002028
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased total lymphocyte countHP:0001888
  • Growth delayHP:0001510
  • HypoalbuminemiaHP:0003073
  • HypoproteinemiaHP:0003075
  • Weight lossHP:0001824

Occasional (29-5%)(17)

  • Abdominal painHP:0002027
  • AscitesHP:0001541
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgG concentrationHP:0004315
  • Decreased circulating IgM concentrationHP:0002850
  • Decreased circulating vitamin D concentrationHP:0100512
  • Decreased effector memory CD4+ T cell proportionHP:0025624
  • Decreased proportion of CD3-positive T cellsHP:0045080
  • Generalized edemaHP:0007430
  • HypocalcemiaHP:0002901
  • HypomagnesemiaHP:0002917
  • Increased stool alpha1-antitrypsin concentrationHP:0031686
  • Muscle spasmHP:0003394
  • Opportunistic infectionHP:0031690
  • Pericardial effusionHP:0001698
  • Pleural effusionHP:0002202
  • TetanyHP:0001281

Very rare (<4-1%)(2)

  • Cryptococcal meningitisHP:0032160
  • Disseminated cutaneous wartsHP:0032215