Search results for "Congenital insensitivity to pain with anhidrosis"

showing 2 items of 2 documents

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

2018

Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were hete…

AdultPremature Stop Codonmedicine.medical_specialtyPainmedicine.disease_causeYoung AdultCongenital insensitivity to pain with anhidrosisHereditary sensory and autonomic neuropathyGeneticsmedicineHumansGenetic Predisposition to DiseaseReceptor trkAAnhidrosisGenetics (clinical)HypohidrosisMutationAdult femalebusiness.industryOssification HeterotopicGeneral MedicineEuropean populationNTRK1 Genemedicine.diseaseDermatologyFemaleArthropathy Neurogenicmedicine.symptombusinessEuropean Journal of Medical Genetics
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Mecanismo de activación del receptor de neurotrofinas TrkA

2022

234 págs, figuras y tablas

UNESCO::CIENCIAS DE LA VIDA::Biología moleculartropomyosin receptor kinase (TrkA):CIENCIAS DE LA VIDA::Neurociencias [UNESCO]UNESCO::CIENCIAS DE LA VIDA::Biología celularCongenital insensitivity to pain with anhidrosis (CIPA):CIENCIAS DE LA VIDA::Biología molecular [UNESCO]nerve growth factor (NGF)Neurotrofinasneurotrofinas:CIENCIAS DE LA VIDA::Biología celular [UNESCO]Nerve growth factor (NGF)UNESCO::CIENCIAS DE LA VIDA::NeurocienciasTropomyosin receptor kinase (TrkA)p75 neurotrophin receptor
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