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paroxysmal extreme pain disorder (familial rectal pain)
Pathology:
- paroxysmal disorder of pain & autonomic dysfunction
Genetics:
- autosomal dominant
- associated with defects in SCN9A
Clinical manifestations:
- distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, & mandibular areas accompanied by autonomic manifestations such as skin flushing
General
familial pain syndrome
Database Correlations
OMIM 167400
References
OMIM :accession 167400