Channelopathy-associated congenital insensitivity to pain, autosomal recessive

MONDO:0009459

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: channelopathy-associated CIP, insensitivity to pain, congenital, neuropathy, hereditary sensory and autonomic, type IID, CIP, HSAN2D, HSAN2D, AR, asymbolia for pain, congenital analgesia, autosomal recessive

4 clinical trials for this condition and its sub-types.

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