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GENATLAS PHENOTYPE

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)