/channelopathy-associated congenital insensitivity to pain, autosomal recessive

channelopathy-associated congenital insensitivity to pain, autosomal recessive

Rare Disease

MONDO:0009459

Also Known As

channelopathy-associated CIPinsensitivity to pain, congenitalneuropathy, hereditary sensory and autonomic, type IIDCIPHSAN2DHSAN2D, ARasymbolia for paincongenital analgesia, autosomal recessiveindifference to pain, congenital, autosomal recessiveinsensitivity to pain, channelopathy-associatedneuropathy, hereditary sensory and autonomic, type 2D

Definition

A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)