Congenital Insensitivity to Pain (CIP)

Congenital Insensitivity to Pain (CIP) is a rare hereditary sensory and autonomic neuropathy (HSAN) characterized by the inability to perceive pain while retaining other sensory modalities such as touch and temperature. Individuals with CIP often present with frequent injuries, burns, or bone fractures that go unnoticed due to the absence of pain perception. Mutations in genes such as SCN9A, NTRK1, and PRDM12 have been identified as major causes, leading to dysfunction in nociceptor development or sodium channel activity. Despite normal cognitive function, patients are at high risk of self-mutilation, joint deformities, and reduced life expectancy due to untreated injuries and infections. Early diagnosis, genetic counseling, and preventive care strategies are essential, as no definitive cure currently exists. Research on CIP not only helps in clinical management but also provides insights into pain mechanisms, offering potential therapeutic targets for novel analgesic drug development.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-09-24
DOI
https://doi.org/10.5281/zenodo.17190927
Primary Topic
Atmospheric and Environmental Gas Dynamics
Type
article
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article

Congenital Insensitivity to Pain (CIP)

Zenodo (CERN European Organization for Nuclear Research)
Atmospheric and Environmental Gas Dynamics
article

Congenital Insensitivity to Pain (CIP)

article en

Abstract

Congenital Insensitivity to Pain (CIP) is a rare hereditary sensory and autonomic neuropathy (HSAN) characterized by the inability to perceive pain while retaining other sensory modalities such as touch and temperature. Individuals with CIP often present with frequent injuries, burns, or bone fractures that go unnoticed due to the absence of pain perception. Mutations in genes such as SCN9A, NTRK1, and PRDM12 have been identified as major causes, leading to dysfunction in nociceptor development or sodium channel activity. Despite normal cognitive function, patients are at high risk of self-mutilation, joint deformities, and reduced life expectancy due to untreated injuries and infections. Early diagnosis, genetic counseling, and preventive care strategies are essential, as no definitive cure currently exists. Research on CIP not only helps in clinical management but also provides insights into pain mechanisms, offering potential therapeutic targets for novel analgesic drug development.

Zenodo (CERN European Organization for Nuclear Research)
Good health and well-being
Openalex Percentile: Top 48%
Atmospheric and Environmental Gas Dynamics
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Congenital Insensitivity to Pain (CIP) · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS