Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:46348

Paroxysmal extreme pain disorder

Also called Familial rectal pain

Body system
Neurological diseases
Inheritance pattern
Autosomal dominant
Typical age of onset
Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:46348 is classified under "Neurological diseases" in the Orphanet nomenclature.

Common signs

  • Seizure
  • Constipation