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Neurocutaneous melanocytosis

ORPHA:2481 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(9)

  • Generalized hirsutismHP:0002230
  • Generalized hyperpigmentationHP:0007440
  • Increased CSF protein concentrationHP:0002922
  • Increased intracranial pressureHP:0002516
  • Intellectual disabilityHP:0001249
  • Melanocytic nevusHP:0000995
  • Numerous congenital melanocytic neviHP:0005603
  • SeizureHP:0001250
  • Thickened skinHP:0001072

Frequent (79-30%)(2)

  • HydrocephalusHP:0000238
  • PapilledemaHP:0001085

Occasional (29-5%)(34)

  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of neuronal migrationHP:0002269
  • AphasiaHP:0002381
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Atypical behaviorHP:0000708
  • Central scotomaHP:0000603
  • Chiari malformationHP:0002308
  • Chorioretinal colobomaHP:0000567
  • Cranial nerve paralysisHP:0006824
  • Dandy-Walker malformationHP:0001305
  • Death in infancyHP:0001522
  • DysphagiaHP:0002015
  • EEG abnormalityHP:0002353
  • Functional abnormality of the bladderHP:0000009
  • HeadacheHP:0002315
  • HemiparesisHP:0001269
  • HypoglycorrhachiaHP:0011972
  • Infectious encephalitisHP:0002383
  • Intracranial hemorrhageHP:0002170
  • IrritabilityHP:0000737
  • MelanomaHP:0002861
  • MeningoceleHP:0002435
  • Mental deteriorationHP:0001268
  • NeoplasmHP:0002664
  • Optic atrophyHP:0000648
  • PsychosisHP:0000709
  • Renal hypoplasia/aplasiaHP:0008678
  • Setting-sun eye phenomenonHP:0012470
  • Sleep-wake cycle disturbanceHP:0006979
  • Spinal cord compressionHP:0002176
  • SyringomyeliaHP:0003396
  • Venous thrombosisHP:0004936
  • VentriculomegalyHP:0002119
  • Visual impairmentHP:0000505

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

  • PruritusHP:0000989