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channelopathy-associated congenital insensitivity to pain, autosomal recessive

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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)
Uniprot Description A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating.
Mondo Term and Equivalent IDs
MONDO:0009459:  channelopathy-associated congenital insensitivity to pain, autosomal recessive
GARD:0012267: 
Orphanet:88642: 
UMLS:C1855739: