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Familial cerebral cavernous malformation

ORPHA:221061 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Obligate (100%)(1)

  • Cerebral cavernous malformationHP:0033522

Very frequent (99-80%)(3)

  • Cerebral hemorrhageHP:0001342
  • HeadacheHP:0002315
  • SeizureHP:0001250

Frequent (79-30%)(10)

  • Cavernous hemangiomaHP:0001048
  • Focal T2 hyperintense brainstem lesionHP:0012748
  • Focal T2 hypointense brainstem lesionHP:0012749
  • HemangiomaHP:0001028
  • HypoesthesiaHP:0033748
  • Increased intracranial pressureHP:0002516
  • Muscle weaknessHP:0001324
  • NeuromaHP:0030430
  • ParesthesiaHP:0003401
  • ScoliosisHP:0002650

Occasional (29-5%)(7)

  • Choroidal hemangiomaHP:0007872
  • Cognitive impairmentHP:0100543
  • Episodic vomitingHP:0002572
  • Retinal cavernous hemangiomaHP:0011513
  • Spinal cord lesionHP:0100561
  • Vascular skin abnormalityHP:0011276
  • Venous malformationHP:0012721

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

  • Adrenal calcificationHP:0010512
  • AstrocytomaHP:0009592
  • MeningiomaHP:0002858
  • Vestibular schwannomaHP:0009588