ArticleJournal of medical genetics2016
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 45 citations in OpenAlex.
- Gene variants associated with pediatric-onset erythromelalgia: Mendelian and rare-variant association analyses.Pain reports · 2026Article
- A multi-omic atlas of human autonomic and sensory ganglia implicates cell types in peripheral neuropathies.bioRxiv : the preprint server for biology · 2025Article
- Homozygosity for a RareInternational journal of molecular sciences · 2024Article
- A challenging diagnosis of chronic osteomyelitis in a child with congenital insensitivity to pain: a case report.Annals of medicine and surgery (2012) · 2024Article
- Congenital insensitivity to pain associated withFrontiers in genetics · 2023Article
- Developmental exposure to the pesticide malathion enhances expression of Prdm12, a regulator of nociceptor development, inmicroPublication biology · 2023Article
- Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.American journal of medical genetics. Part A · 2022Article
- Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature.Cureus · 2022Article
- Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity.Pathophysiology : the official journal of the International Society for Pathophysiology · 2022Review
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- PRDM12 in Health and Diseases.International journal of molecular sciences · 2021Review
- Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.Neurology. Genetics · 2021Article
- Loss of Prdm12 during development, but not in mature nociceptors, causes defects in pain sensation.Cell reports · 2021Article
- The development of somatosensory neurons: Insights into pain and itch.Current topics in developmental biology · 2021Review
- Painless: a case of congenital insensitivity to pain in a 5-year-old male.Oxford medical case reports · 2020Article
- Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification.Current neurology and neuroscience reports · 2019Review
- Hereditary sensory and autonomic neuropathy in a male child: 'The other side of not feeling pain'.BMJ case reports · 2018Article
- A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.Journal of the peripheral nervous system : JPNS · 2018Article
- Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report.Anesthesia progress · 2018Article
- Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.Journal of medical case reports · 2017Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundCongenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported.
methodsWe have ascertained five adult patients and report their clinical features.
resultsBased on our findings, and those of previous patients, we describe the natural history of the PRDM12-CIP disorder, and derive diagnostic and management features to guide the clinical management of patients.
conclusionsPRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.