Congenital pain insensitivity with anhidrosis

Definition:

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis and absence of reaction to noxious stimuli, self-mutilating behaviour, and mental retardation. Neurotrophic tyrosine kinase receptor type 1 (NTRK1) is considered the most likely candidate gene for CIPA, although involvement of other genes is a possibility. To date, approximately 50 loss-of-function NTRK1 variants have been associated with CIPA.

References:

[1]. Qingli Wang, et al. Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. Medicine (Baltimore). 2015 May;94(19):e871. [Content Brief]

[2]. Y Indo, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996 Aug;13(4):485-8. [Content Brief]

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