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Paroxysmal extreme pain disorder

Disease definition

A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.

ORPHA:46348

Classification level: Disorder
  • Synonym(s):
    • Familial rectal pain
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 167400
  • UMLS: C1833661
  • MeSH: -
  • GARD: 12854
  • MedDRA: -
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