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References OMIM Gene GeneReviews HGMD HGNC
last update : 17/11/2008
Symbol PEXPD
Location 2q24
Name paroxysmal extreme pain disorder
Other name(s) familial rectal pain
Corresponding gene SCN9A
Other symbol(s) PEPD, FRP
Main clinical features
  • characterized by paroxysms of rectal, ocular, or submandibular pain with flushing
  • 4 types of painful episode: birth crisis, in which babies are born red and stiff; rectal crisis, which is triggered by defecation in infants and young children and by a variety of emotional factors in older children and adults; ocular crisis, which may be provoked but is more usually spontaneous; and mandibular crisis, which is often triggered by eating and yawning
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s) activating mutations cause severe episodic pain in paroxysmal extreme pain disorder and primary erythermalgia (Reimann 2010)