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Craniopharyngioma

ORPHA:54595 · Disease · Disorder

HPO 表現型（共 46 項）

Obligate (100%)(1)

  • Abnormal hypothalamus morphologyHP:0012286

Very frequent (99-80%)(5)

  • Cerebral calcificationHP:0002514
  • Enlarged pituitary glandHP:0012505
  • HypopituitarismHP:0040075
  • Intracranial cystic lesionHP:0010576
  • Neoplasm of the anterior pituitaryHP:0011750

Frequent (79-30%)(16)

  • Abnormal visual field testHP:0030588
  • Bitemporal hemianopiaHP:0030521
  • Central adrenal insufficiencyHP:0011734
  • Central diabetes insipidusHP:0000863
  • Excessive daytime somnolenceHP:0001262
  • HeadacheHP:0002315
  • HypogonadismHP:0000135
  • Hypogonadotropic hypogonadismHP:0000044
  • Increased circulating prolactin concentrationHP:0000870
  • Nausea and vomitingHP:0002017
  • ObesityHP:0001513
  • PapilledemaHP:0001085
  • Pituitary hypothyroidismHP:0008245
  • Progressive visual field defectsHP:0007987
  • Sleep disturbanceHP:0002360
  • Slow decrease in visual acuityHP:0007924

Occasional (29-5%)(12)

  • Cerebral ischemiaHP:0002637
  • Delayed pubertyHP:0000823
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HydrocephalusHP:0000238
  • Increased intracranial pressureHP:0002516
  • Increased susceptibility to fracturesHP:0002659
  • Optic atrophyHP:0000648
  • PolyphagiaHP:0002591
  • Proportionate short statureHP:0003508
  • Sleep apneaHP:0010535
  • Type II diabetes mellitusHP:0005978

Very rare (<4-1%)(12)

  • Abnormal frontal bone morphologyHP:0430000
  • Abnormal nasal bone morphologyHP:0010939
  • Atypical behaviorHP:0000708
  • ComaHP:0001259
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Myocardial infarctionHP:0001658
  • Postnatal growth retardationHP:0008897
  • Recurrent infectionsHP:0002719
  • SeizureHP:0001250
  • Sudden loss of visual acuityHP:0001117
  • VertigoHP:0002321