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Article

[Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome].

Revista de neurologia - 1 Jan 2000

Raspall-Chaure M, Del Toro-Riera M, Gratacós M, Cuenca-León E, Ferrer I, Indo Y, Roig-Quilis M, Macaya-Ruiz A

Abstract excerpt

INTRODUCTION: Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive disorder featuring recurrent fever episodes, inability to sweat, absent response to noxious stimuli, self mutilating behavior and mental retardation. It has been associated with mutations in the NTRK1 gene, located in 1q21-22 and encoding a...

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Source

Identifiers

PMID: 16075400

Genes

NTRK1
NGF

Provenance

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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[Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome].PMID 16075400Read ↗

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literatureSemantic proximity Read ↗

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.Semantic proximity Read ↗

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.Semantic proximity Read ↗

[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis].Semantic proximity Read ↗

[Congenital insensitivity to pain with anhidrosis: A case report and literature review].Semantic proximity Read ↗

Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case ReportSemantic proximity Read ↗

Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.Semantic proximity Read ↗

Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.Semantic proximity Read ↗

Novel and Novel De Novo Mutations in NTRK1 Associated With Congenital Insensitivity to Pain With AnhidrosisSemantic proximity Read ↗

A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.Semantic proximity Read ↗

Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).Semantic proximity Read ↗

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.Semantic proximity Read ↗

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