An autosomal dominant disorder due to a sodium channelopathy and characterised by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
2983098017
Familial rectal pain
Active
Synonym
false
false
2983160015
Submandibular, ocular and rectal pain with flushing