Congenital insensitivity to pain

Información en español Title

Other Names:

Channelopathy-associated congenital insensitivity to pain; Channelopathy-associated CIP

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain. Affected individuals are unable to feel pain in any part of their body. Over time, this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy.^[1] Congenital insensitivity to pain is caused by mutations in the SCN9A gene and, in rare cases, is caused by mutations in the PMRD12 gene. It is inherited in an autosomal recessive pattern.^[1]^[2]^[3]

Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.^[1] It is part of a group known as hereditary sensory and autonomic neuropathies.

Last updated: 1/26/2016

Symptoms Symptoms

Congenital insensitivity to pain is characterized by the inability to perceive physical pain. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This condition, which is present from birth, can lead to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected over time and can lead to a reduction in life expectancy. Young children with congenital insensitivity to pain may have mouth or finger wounds due to self-biting and may also experience multiple burn-related injuries. Many people with this condition also have a complete loss of the sense of smell (anosmia).^[1] In cases of congenital insensitivity to pain caused by mutations in the PRDM12 gene, the patients have a normal sense of smell, predisposition to infections and a greater incidence of corneal abrasions due to a lack of tear production.^[3]

Visit the following link to access a table which outlines the different body systems affected by this condition.
http://www.omim.org/clinicalSynopsis/243000

Last updated: 3/18/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormal autonomic nervous system physiology		0012332
Anhidrosis	Lack of sweating Sweating dysfunction [ more ]	0000970
Anosmia	Lost smell	0000458
Autosomal recessive inheritance		0000007
Hypohidrosis	Decreased ability to sweat Decreased sweating Sweating, decreased [ more ]	0000966
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Hyposmia		0004409
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Pain insensitivity		0007021
Painless fractures due to injury		0002661
Urinary incontinence	Loss of bladder control	0000020
Variable expressivity		0003828

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Last updated: 8/1/2020

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Congenital insensitivity to pain. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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References References

Congenital insensitivity to pain. Genetics Home Reference (GHR). November 2012; http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain.
INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE. Online Mendelian Inheritance in Man (OMIM). November 10, 2014; http://www.omim.org/entry/243000.
Zhang S & cols. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. J Med Genet. March 14, 2016; 103646:http://jmg.bmj.com/content/early/2016/03/14/jmedgenet-2015-103646.long.

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