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CADASIL

ORPHA:136 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(4)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Lacunar strokeHP:0032325
  • LeukoencephalopathyHP:0002352
  • Multifocal hyperintensity of cerebral white matter on MRIHP:0040329

Frequent (79-30%)(8)

  • ApathyHP:0000741
  • Cerebral ischemiaHP:0002637
  • Cognitive impairmentHP:0100543
  • Emotional labilityHP:0000712
  • MigraineHP:0002076
  • Migraine with auraHP:0002077
  • StrokeHP:0001297
  • Transient ischemic attackHP:0002326

Occasional (29-5%)(27)

  • Abnormally slow thought processHP:0031843
  • AnxietyHP:0000739
  • Arterial stenosisHP:0100545
  • Brain atrophyHP:0012444
  • Cerebral hemorrhageHP:0001342
  • ConfusionHP:0001289
  • DementiaHP:0000726
  • DepressionHP:0000716
  • Diabetes mellitusHP:0000819
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EncephalopathyHP:0001298
  • Gait disturbanceHP:0001288
  • HemiplegiaHP:0002301
  • HypertensionHP:0000822
  • Impaired visuospatial constructive cognitionHP:0010794
  • Intracranial hemorrhageHP:0002170
  • Ischemic strokeHP:0002140
  • Language impairmentHP:0002463
  • Loss of consciousnessHP:0007185
  • Memory impairmentHP:0002354
  • Motor deteriorationHP:0002333
  • ParkinsonismHP:0001300
  • Recurrent subcortical infarctsHP:0007236
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Stress urinary incontinenceHP:0010992

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

  • AphasiaHP:0002381