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Disease Profile

Congenital insensitivity to pain

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

-

ICD-10

G60.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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.

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. 
https://www.omim.org/clinicalSynopsis/243000

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.

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

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.

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

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.

References

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

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