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Sneddon syndrome

ORPHA:820 · Disease · Disorder

HPO 表現型（共 54 項）

Obligate (100%)(1)

  • Livedo racemosaHP:0033260

Very frequent (99-80%)(11)

  • Arterial stenosisHP:0100545
  • Atypical behaviorHP:0000708
  • Cerebral cortical atrophyHP:0002120
  • Cutis marmorataHP:0000965
  • HeadacheHP:0002315
  • Memory impairmentHP:0002354
  • MigraineHP:0002076
  • Sensorimotor neuropathyHP:0007141
  • Thromboembolic strokeHP:0001727
  • Vascular skin abnormalityHP:0011276
  • VertigoHP:0002321

Frequent (79-30%)(19)

  • Amaurosis fugaxHP:0100576
  • Aortic regurgitationHP:0001659
  • Cerebral infarctHP:0025722
  • Cognitive impairmentHP:0100543
  • Decreased glomerular filtration rateHP:0012213
  • DementiaHP:0000726
  • Developmental regressionHP:0002376
  • Diminished ability to concentrateHP:0031987
  • Focal-onset seizureHP:0007359
  • HemiparesisHP:0001269
  • HypertensionHP:0000822
  • Impaired visuospatial constructive cognitionHP:0010794
  • Libman-Sacks lesionsHP:0011714
  • Mental deteriorationHP:0001268
  • Mitral regurgitationHP:0001653
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Transient ischemic attackHP:0002326
  • Visual field defectHP:0001123

Occasional (29-5%)(21)

  • Antiphospholipid antibody positivityHP:0003613
  • AphasiaHP:0002381
  • Bicuspid aortic valveHP:0001647
  • Central retinal artery occlusionHP:0025342
  • Central retinal vein occlusionHP:0020166
  • Cerebral visual impairmentHP:0100704
  • ChilblainsHP:0009710
  • ChoreaHP:0002072
  • Cutaneous necrosisHP:0033126
  • DepressionHP:0000716
  • Internuclear ophthalmoplegiaHP:0030773
  • Intracranial hemorrhageHP:0002170
  • NephropathyHP:0000112
  • Oculomotor nerve palsyHP:0012246
  • Peripheral neuropathyHP:0009830
  • ProteinuriaHP:0000093
  • Raynaud phenomenonHP:0030880
  • SeizureHP:0001250
  • Splinter hemorrhagesHP:6000139
  • Suicide behaviorsHP:5200330
  • TremorHP:0001337

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

  • Intraventricular hemorrhageHP:0030746
  • Subarachnoid hemorrhageHP:0002138