Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
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)
Also known as autosomal recessive hereditary sensory neuropathy type IID, channelopathy-associated CIP, congenital insensitivity to pain with anosmia and neuropathic arthropathy, HSAN2D, indifference to pain, congenital, autosomal recessive, SCN9A-related congenital insensitivity to pain — per MONDO