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Article

Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

Journal of the peripheral nervous system : JPNS - 1 Jun 2017

Nam Tai-Seung, Li Wenting, Yoon Somy, Eom Gwang Hyeon, Kim Myeong-Kyu, Jung Sung Taek, Choi Seok-Yong

Abstract excerpt

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable mental retardation. Mutations in neurotrophic receptor tyrosine kinase 1 (NTRK1) have been reported to be associated with CIPA. We...

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Source

Identifiers

PMID: 28177573
DOI: 10.1111/jns.12205

Genes

NTRK1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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