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Familial colorectal cancer Type X

ORPHA:440437 · Disease · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(6)

  • Abdominal painHP:0002027
  • ConstipationHP:0002019
  • FatigueHP:0012378
  • Glioblastoma multiformeHP:0012174
  • MalabsorptionHP:0002024
  • Weight lossHP:0001824

Frequent (79-30%)(13)

  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • DepressionHP:0000716
  • Gastrointestinal hemorrhageHP:0002239
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • Increased intracranial pressureHP:0002516
  • IrritabilityHP:0000737
  • MigraineHP:0002076
  • Nausea and vomitingHP:0002017
  • Neoplasm of the rectumHP:0100743
  • SeizureHP:0001250

Occasional (29-5%)(29)

  • Abnormal circulating creatine concentrationHP:0012113
  • Abnormal pyramidal signHP:0007256
  • Abnormal speech patternHP:0002167
  • Amaurosis fugaxHP:0100576
  • Basal cell carcinomaHP:0002671
  • Benign neoplasm of the central nervous systemHP:0100835
  • Cardiac diverticulumHP:0100571
  • Developmental regressionHP:0002376
  • Disturbed sensory perceptionHP:0010524
  • DysarthriaHP:0001260
  • DysgraphiaHP:0010526
  • DyskinesiaHP:0100660
  • Flexion contractureHP:0001371
  • Gait disturbanceHP:0001288
  • HallucinationsHP:0000738
  • Hemiplegia/hemiparesisHP:0004374
  • Hepatocellular carcinomaHP:0001402
  • Memory impairmentHP:0002354
  • Neoplasm of the colonHP:0100273
  • Neoplasm of the pancreasHP:0002894
  • Neoplasm of the skeletal systemHP:0010622
  • Neoplasm of the thyroid glandHP:0100031
  • NeuroblastomaHP:0003006
  • Pancreatic adenocarcinomaHP:0006725
  • ParesthesiaHP:0003401
  • Pituitary adenomaHP:0002893
  • Urinary tract neoplasmHP:0010786
  • Visual field defectHP:0001123
  • Visual impairmentHP:0000505

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

  • Stomach cancerHP:0012126
  • Uterine neoplasmHP:0010784

Excluded (0%)(3)

  • Neoplasm of the breastHP:0100013
  • Ovarian neoplasmHP:0100615
  • Renal neoplasmHP:0009726