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Aicardi-Goutières syndrome

ORPHA:51 · Disease · Disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(7)

  • ArrhinencephalyHP:0002139
  • Global developmental delayHP:0001263
  • HypertoniaHP:0001276
  • Multifocal cerebral white matter abnormalitiesHP:0007052
  • Porencephalic cystHP:0002132
  • Profound intellectual disabilityHP:0002187
  • SpasticityHP:0001257

Frequent (79-30%)(28)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • AutoimmunityHP:0002960
  • Axial hypotoniaHP:0008936
  • Brain atrophyHP:0012444
  • Cerebral calcificationHP:0002514
  • ChilblainsHP:0009710
  • Chronic CSF lymphocytosisHP:0009704
  • Convex nasal ridgeHP:0000444
  • Developmental regressionHP:0002376
  • Dry skinHP:0000958
  • DystoniaHP:0001332
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Extrapyramidal muscular rigidityHP:0007076
  • Eyelid colobomaHP:0000625
  • Gait disturbanceHP:0001288
  • Hemiplegia/hemiparesisHP:0004374
  • HepatosplenomegalyHP:0001433
  • Hypoplasia of the corpus callosumHP:0002079
  • Increased circulating interferon-gamma concentrationHP:0030356
  • Increased CSF interferon alphaHP:0009709
  • IrritabilityHP:0000737
  • LeukodystrophyHP:0002415
  • Loss of speechHP:0002371
  • MicrocephalyHP:0000252
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Unexplained feversHP:0001955
  • VentriculomegalyHP:0002119

Occasional (29-5%)(28)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of eye movementHP:0000496
  • AcrocyanosisHP:0001063
  • ArthritisHP:0001369
  • CardiomegalyHP:0001640
  • Cutis marmorataHP:0000965
  • Demyelinating peripheral neuropathyHP:0007108
  • Developmental glaucomaHP:0001087
  • Diabetes mellitusHP:0000819
  • GlaucomaHP:0000501
  • HeadacheHP:0002315
  • Hoarse voiceHP:0001609
  • HypothyroidismHP:0000821
  • Low-set earsHP:0000369
  • MicropenisHP:0000054
  • Multiple joint contracturesHP:0002828
  • Muscle stiffnessHP:0003552
  • Neonatal alloimmune thrombocytopeniaHP:0004809
  • NystagmusHP:0000639
  • PanniculitisHP:0012490
  • PlagiocephalyHP:0001357
  • Prolonged neonatal jaundiceHP:0006579
  • PtosisHP:0000508
  • Raynaud phenomenonHP:0030880
  • ScoliosisHP:0002650
  • Spastic paraparesisHP:0002313
  • Spastic tetraplegiaHP:0002510
  • TremorHP:0001337

Very rare (<4-1%)(9)

  • Aortic aneurysmHP:0004942
  • Calcification of the aortaHP:0004963
  • Chronic lymphatic leukemiaHP:0005550
  • Degeneration of the striatumHP:0040140
  • EnchondromaHP:0030038
  • Hypertrophic cardiomyopathyHP:0001639
  • LipoatrophyHP:0100578
  • Moyamoya phenomenonHP:0011834
  • MyositisHP:0100614