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Trichohepatoenteric syndrome

ORPHA:84064 · Disease · Disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • ImmunodeficiencyHP:0002721
  • Intractable diarrheaHP:0002041
  • Woolly hairHP:0002224

Frequent (79-30%)(21)

  • Abnormal skin morphologyHP:0011121
  • Abnormality of the liverHP:0001392
  • Brittle hairHP:0002299
  • Broad foreheadHP:0000337
  • CirrhosisHP:0001394
  • Dependency on intravenous nutritionHP:0025156
  • Global developmental delayHP:0001263
  • Hepatic fibrosisHP:0001395
  • HepatomegalyHP:0002240
  • HypertelorismHP:0000316
  • Hypopigmentation of hairHP:0005599
  • Intrauterine growth retardationHP:0001511
  • Mild intellectual disabilityHP:0001256
  • PanhypogammaglobulinemiaHP:0003139
  • Prominent foreheadHP:0011220
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Trichorrhexis nodosaHP:0009886
  • Uncombable hairHP:0030056
  • Villous atrophyHP:0011473
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(10)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of iron homeostasisHP:0011031
  • Cafe-au-lait spotHP:0000957
  • ColitisHP:0002583
  • Decreased total lymphocyte countHP:0001888
  • Dry skinHP:0000958
  • GastritisHP:0005263
  • Increased mean platelet volumeHP:0011877
  • Recurrent infectionsHP:0002719
  • ThrombocytosisHP:0001894

Very rare (<4-1%)(17)

  • Aortic regurgitationHP:0001659
  • Atrial septal defectHP:0001631
  • Bicuspid aortic valveHP:0001647
  • Bloody diarrheaHP:0025085
  • Generalized hypopigmentationHP:0007513
  • GlaucomaHP:0000501
  • HepatoblastomaHP:0002884
  • Hypoplasia of the thymusHP:0000778
  • HypothyroidismHP:0000821
  • Inguinal herniaHP:0000023
  • Patent ductus arteriosusHP:0001643
  • Peripheral pulmonary artery stenosisHP:0004969
  • Polycystic kidney dysplasiaHP:0000113
  • Renal hypoplasiaHP:0000089
  • SplenomegalyHP:0001744
  • Tetralogy of FallotHP:0001636
  • Ventricular septal defectHP:0001629