Channelopathy-associated congenital insensitivity to pain is a rare condition caused by genetic mutations in the genes that encode for ion channels. In this article, we will learn more about the causes, inheritance patterns, and clinical features of this condition.

Genes associated with channelopathy-associated congenital insensitivity to pain include SCN9A, SCN11A, and PRDM12, among others. These genes play a crucial role in the function of ion channels in nerve cells, which transmit signals of pain to the spinal cord and brain. When these genes are broken or mutated, the channels cannot function properly, resulting in an inability to feel pain.

This condition is extremely rare, with a frequency of less than 1 in 1 million people. It has been reported in various populations around the world, and additional research is ongoing to understand its prevalence in different ethnic groups.

Clinical features of channelopathy-associated congenital insensitivity to pain vary from patient to patient. Some individuals may experience other neurological symptoms, such as impaired temperature and touch sensation, while others may have no other signs of the condition. These differences highlight the complexity of this condition and the need for further scientific research.

Research into channelopathy-associated congenital insensitivity to pain is ongoing, and there are several resources available for more information. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive scientific information and references on genetic conditions, including this particular channelopathy. ClinicalTrials.gov is another valuable resource for learning about ongoing studies and clinical trials related to this condition.

In conclusion, channelopathy-associated congenital insensitivity to pain is a rare genetic condition that causes an inability to feel pain. It is caused by mutations in genes that encode for ion channels in nerve cells. More research and clinical trials are needed to understand this condition better and develop treatments and support for affected individuals and their families.

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Frequency

The frequency of Channelopathy-associated congenital insensitivity to pain is rare. There is limited research and resources available for this condition. The Center for Advocacy and Support offers information and support for patients and their families.

Signs and symptoms of this condition can vary depending on the specific gene mutation involved. Genetic testing may be necessary to confirm the diagnosis.

ClinicalTrials.gov and OMIM (Online Mendelian Inheritance in Man) are resources where additional information about ongoing research studies, clinical trials, and genetic information can be found.

Channelopathy-associated congenital insensitivity to pain is caused by mutations in various genes that affect the function of ion channels in nerve cells. These channels are involved in transmitting pain signals.

There are other congenital insensitivity to pain syndromes that are not specifically channelopathy-associated. Some of these conditions have been studied more extensively and have established names.

References:

• Woods CG. Channelopathy-associated congenital insensitivity to pain. Adv Genet. 2008;63:53-76. doi: 10.1016/S0065-2660(08)01003-7. PMID: 19161844.
• Pubmed: Search for “Channelopathy-associated congenital insensitivity to pain”
• OMIM: Search for “congenital insensitivity to pain”
• ClinicalTrials.gov: Search for “congenital insensitivity to pain”

Causes

Congenital insensitivity to pain (CIP), also known as congenital analgesia or analgesia congenita, is a rare genetic condition that affects the ability to perceive pain. CIP is caused by mutations in certain genes that play a role in the function of ion channels in nerve cells. These ion channels are important for transmitting pain signals from the nerves to the brain.

CIP is typically inherited in an autosomal recessive manner, which means that a child must inherit two copies of the mutated gene, one from each parent, to develop the condition. However, in some cases, CIP can be inherited in an autosomal dominant manner, which means that a child only needs to inherit one copy of the mutated gene to develop the condition.

There are several known genes associated with CIP, including SCN9A, SCN11A, and PRDM12. Mutations in these genes can disrupt the normal functioning of ion channels, resulting in a reduced ability to perceive pain. These genes have been identified through genetic studies and are listed in the Online Mendelian Inheritance in Man (OMIM) gene catalog.

The frequency of CIP is currently unknown, as it is a rare condition and many cases may go undiagnosed. However, the condition has been reported in various populations around the world.

Studies have shown that individuals with CIP may also have other neurological abnormalities, such as an impaired sense of touch or temperature sensitivity. Additionally, some individuals with CIP may have abnormalities in other parts of the body, such as the teeth or the spine.

There is currently no cure for CIP, and treatment focuses on managing the symptoms and complications associated with the condition. Genetic testing can be used to confirm a diagnosis of CIP, and counseling and support resources are available for individuals and families affected by the condition.

To learn more about CIP and channelopathy-associated diseases, additional information and resources can be found through advocacy and patient support organizations, clinicaltrials.gov, scientific articles, and references in the field.

References

1. Online Mendelian Inheritance in Man (OMIM) gene catalog. Available from: https://www.omim.org/.

2. ClinicalTrials.gov. Available from: https://clinicaltrials.gov/.

3. Woods CG. Human congenital pain insensitivity: a unique window into human pain genetics. Trends Neurosci. 2018;41(4):207-219.

4. Resources for Channelopathy-Associated Congenital Insensitivity to Pain. Available from: https://chaninstitute.org/causes/.

Learn more about the gene associated with Channelopathy-associated congenital insensitivity to pain

Channelopathy-associated congenital insensitivity to pain (CIP) is a rare condition that affects the ability to experience pain. It is caused by mutations in the gene associated with the SCN9A channel, which is responsible for transmitting pain signals from nerve cells to the brain.

Research into this channelopathy-associated congenital insensitivity to pain has provided valuable insights into the genetic basis of pain perception and has shed light on the role of ion channels in pain transmission.

Additional studies are ongoing to further understand the inheritance patterns and clinical presentation of this condition. The frequency of this condition is estimated to be less than 1 in 1 million individuals.

The gene associated with channelopathy-associated congenital insensitivity to pain, SCN9A, encodes a sodium channel on nerve cells in the spinal cord. Mutations in this gene can lead to a loss of function in the sodium channel, resulting in a lack of pain perception.

Signs and symptoms of channelopathy-associated congenital insensitivity to pain:

Signs and Symptoms	Description
Lack of pain perception	Individuals with this condition do not feel pain in response to injury or other painful stimuli.
Slow wound healing	Due to the lack of pain perception, injuries may not be detected and treated in a timely manner, leading to slower wound healing.
Recurrent injuries	Without the ability to feel pain, individuals with channelopathy-associated congenital insensitivity to pain may experience recurrent injuries.

Genetic testing can be used to confirm a diagnosis of channelopathy-associated congenital insensitivity to pain. Testing can identify mutations in the SCN9A gene that are associated with this condition.

There are several resources available for individuals and families affected by this condition. The Genetic and Rare Diseases Information Center (GARD) provides information and support to patients and their families. The Online Mendelian Inheritance in Man (OMIM) database contains additional articles and scientific studies on this condition.

ClinicalTrials.gov lists current clinical trials and research studies into channelopathy-associated congenital insensitivity to pain. This can provide opportunities for patients to participate in research and potentially access new treatments.

In summary, channelopathy-associated congenital insensitivity to pain is a rare genetic condition caused by mutations in the SCN9A gene. Individuals with this condition do not feel pain due to a loss of function in the pain-transmitting sodium channel in nerve cells.

For more information on channelopathy-associated congenital insensitivity to pain, please refer to the following resources:

• Genetic and Rare Diseases Information Center (GARD): rarediseases.info.nih.gov/diseases/6983/channelopathy-associated-congenital-insensitivity-to-pain
• Online Mendelian Inheritance in Man (OMIM): omim.org/entry/243000
• ClinicalTrials.gov: clinicaltrials.gov/ct2/results?cond=Channelopathy-associated+congenital+insensitivity+to+pain

Inheritance

The congenital insensitivity to pain associated with channelopathy is a rare genetic condition characterized by the inability to feel pain. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for their child to be affected.

Genetic testing can be done to confirm the diagnosis of channelopathy-associated congenital insensitivity to pain. By analyzing the patient’s DNA, geneticists can identify mutations in the genes responsible for the condition.

There are several genes associated with channelopathy-associated congenital insensitivity to pain, including SCN9A, SCN11A, and PRDM12. Mutations in these genes affect the functioning of ion channels, which are involved in transmitting signals along nerve cells. When these channels are broken, the nerves cannot transmit pain signals to the brain, resulting in insensitivity to pain.

More information about these genes and their association with channelopathy-associated congenital insensitivity to pain can be found in the OMIM database and other scientific resources. Clinical trials registered on ClinicalTrials.gov may provide additional support and advocacy for patients with this rare condition.

Research is ongoing into the genetic basis of channelopathy-associated congenital insensitivity to pain, and studies are being conducted to learn more about the frequency, signs, and inheritance patterns of this condition.

References:

• OMIM database: www.omim.org
• ClinicalTrials.gov: www.clinicaltrials.gov
• PubMed: www.pubmed.ncbi.nlm.nih.gov

Other Names for This Condition

Channelopathy-associated congenital insensitivity to pain has also been referred to by several other names:

• Channelopathy-associated congenital insensitivity to pain
• Congenital insensitivity to pain
• Hereditary sensory and autonomic neuropathy type V
• HSAN V
• Congenital analgesia
• Congenital pain indifference

These alternative names provide additional information about the condition and can be helpful in research and gene testing studies. They are also used to describe related channels of inheritance and associated clinical signs and symptoms.

For more information, you can visit the following resources:

• Scientific Articles: Search for articles on Channelopathy-associated congenital insensitivity to pain in PubMed
• Additional Resources: Learn more about Channelopathy-associated congenital insensitivity to pain on OMIM
• ClinicalTrials.gov: Find information about ongoing research studies and clinical trials on Channelopathy-associated congenital insensitivity to pain
• Genetic Testing: Get information on gene testing for Channelopathy-associated congenital insensitivity to pain and related genes
• Patient Support and Advocacy: Find support groups and organizations that provide support and resources for individuals with Channelopathy-associated congenital insensitivity to pain and their families
• GeneReviews: Access comprehensive information on the causes, clinical signs, and more about Channelopathy-associated congenital insensitivity to pain

By exploring these resources, you can gain further insight and knowledge into this rare condition and the genes and nerve channels involved in the transmission of pain signals.

Additional Information Resources

Patients and families affected by channelopathy-associated congenital insensitivity to pain can find additional information and support from the following resources:

• OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes associated with channelopathies, including those related to congenital insensitivity to pain.
• PubMed – PubMed is a database of scientific articles and research studies where patients and healthcare professionals can find more information on the condition, its causes, and possible treatments.
• ClinicalTrials.gov – This online resource allows patients to search for ongoing clinical trials and research studies related to channelopathy-associated congenital insensitivity to pain. These trials may offer new treatment options or opportunities to participate in cutting-edge research.
• Genetic Testing – Genetic testing laboratories can provide tests that can identify specific gene mutations associated with channelopathies. Patients can contact their healthcare provider for more information on genetic testing options.
• Advocacy Organizations – Several advocacy organizations and support groups are dedicated to providing information, resources, and support to individuals and families affected by rare genetic diseases. These organizations can help connect patients with others who share their condition and provide emotional support.

By learning more about channelopathy-associated congenital insensitivity to pain, patients and their families can better understand the condition and explore available resources for support, research, and potential treatment options.

Genetic Testing Information

Genetic testing is an important tool in identifying the underlying genetic causes of channelopathy-associated congenital insensitivity to pain. This condition is characterized by the inability to feel pain, and is often associated with mutations in specific genes.

For patients with congenital insensitivity to pain, genetic testing can provide valuable information about their condition. By analyzing their genes, scientists can identify the specific gene or genes responsible for the condition.

Since channelopathy-associated congenital insensitivity to pain is a rare condition, it is important to learn more about the genetic causes and inheritance patterns. Genetic testing can help identify the frequency of the condition and how it is transmitted from one generation to another.

In addition to providing information about the condition itself, genetic testing can also offer important insights into potential treatment options. By understanding the specific genes involved, researchers can develop targeted therapies to help manage the symptoms of channelopathy-associated congenital insensitivity to pain.

If you or someone you know has been diagnosed with congenital insensitivity to pain, there are resources available to support you. Advocacy organizations and scientific research centers often provide information, support, and additional resources for individuals and families affected by channelopathy-associated congenital insensitivity to pain.

Here are some resources where you can learn more about channelopathy-associated congenital insensitivity to pain and genetic testing:

• OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalogue of genes and genetic diseases, including information on channelopathy-associated congenital insensitivity to pain.
• PubMed – A database of scientific articles and studies, where you can find research papers on channelopathy-associated congenital insensitivity to pain.
• ClinicalTrials.gov – A registry of clinical trials, where you can find information on ongoing studies related to channelopathy-associated congenital insensitivity to pain and potential treatment options.

By utilizing these resources and staying informed about the latest research and advancements in genetic testing, you can gain a better understanding of channelopathy-associated congenital insensitivity to pain and its underlying genetic causes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information on rare genetic diseases, including Channelopathy-associated congenital insensitivity to pain. GARD offers a variety of resources for patients, families, and healthcare professionals to learn more about this condition.

What is Channelopathy-associated congenital insensitivity to pain?

Channelopathy-associated congenital insensitivity to pain is a rare genetic condition that affects the ability to feel pain. It is caused by changes in genes that are involved in the function of ion channels, which are essential for transmitting nerve signals. People with this condition are unable to sense pain, heat, or cold.

Inheritance and Genetic Causes

Channelopathy-associated congenital insensitivity to pain can be inherited in different ways, depending on the specific gene involved. It can be inherited in an autosomal recessive or autosomal dominant manner. Mutations in certain genes, such as SCN9A, SCN11A, and PRDM12, have been associated with this condition.

Signs and Symptoms

Individuals with channelopathy-associated congenital insensitivity to pain may have no obvious signs or symptoms, as they cannot feel pain. Some individuals may exhibit injuries or wounds that go unnoticed, leading to potential complications. They may also have difficulties with regulating body temperature.

Diagnostic Testing and Research

A diagnosis of channelopathy-associated congenital insensitivity to pain may be suspected based on the individual’s symptoms and clinical examination. Genetic testing can be used to confirm diagnosis by identifying mutations in the relevant genes. Current research is focused on understanding the underlying mechanisms of this condition and developing potential treatments.

Additional Resources

The Genetic and Rare Diseases Information Center provides additional resources for those seeking more information about channelopathy-associated congenital insensitivity to pain. These resources include links to research articles, clinical trials on ClinicalTrials.gov, and names of advocacy and support groups. The GARD website also lists references from PubMed, as well as other genetic and rare disease catalogs.

Frequency and Support

Channelopathy-associated congenital insensitivity to pain is a rare condition, and its exact frequency is unknown. The GARD website offers information on the estimated prevalence of the condition and provides contact information for support groups and organizations that can offer guidance and support to patients and their families.

Further Reading

To learn more about channelopathy-associated congenital insensitivity to pain and related genetic conditions, visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov/.

Patient Support and Advocacy Resources

If you or someone you know is affected by channelopathy-associated congenital insensitivity to pain, it can be helpful to connect with patient support and advocacy resources. These organizations provide additional information, support, and resources for individuals and families dealing with this rare condition.

Here are some recommended patient support and advocacy resources:

1. The Congenital Insensitivity to Pain Center: This center specializes in the diagnosis and management of channelopathy-associated congenital insensitivity to pain. They offer comprehensive care, genetic testing, and support for patients and their families.
2. Genetic and Rare Diseases Information Center: This online resource provides information on rare diseases, including channelopathy-associated congenital insensitivity to pain. They offer links to scientific articles, clinical studies, and genetic testing resources.
3. Patient Advocacy Organizations: There are several organizations that advocate for individuals with channelopathy-associated congenital insensitivity to pain and other rare genetic conditions. These organizations offer support, education, and advocacy for patients and their families.
4. ClinicalTrials.gov: This website provides information on ongoing clinical trials for channelopathy-associated congenital insensitivity to pain and related conditions. It allows patients to search for trials and learn about opportunities to participate in research studies.
5. PubMed: PubMed is a database of scientific articles related to medical research. Searching for channelopathy-associated congenital insensitivity to pain can provide access to the latest studies, clinical findings, and treatment options.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, inheritance patterns, and management options for this condition. These patient support and advocacy resources can offer valuable information and a network of individuals who understand the challenges associated with channelopathy-associated congenital insensitivity to pain.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about congenital insensitivity to pain and channelopathy-associated conditions. These studies aim to understand the causes, inheritance patterns, and genetic mutations associated with these diseases.

ClinicalTrialsgov is a comprehensive online resource that catalogues ongoing clinical trials and research studies in various fields, including rare diseases such as congenital insensitivity to pain. It serves as a platform for patients, advocacy groups, and researchers to learn more about ongoing studies and find resources and support.

One of the rare conditions studied on ClinicalTrialsgov is channelopathy-associated congenital insensitivity to pain. This condition is caused by broken genes that affect the nerve channels responsible for transmitting pain signals from the spinal cord to the brain. The frequency of this condition is low, and research studies aim to learn more about the genetic mutations and their effects on nerve channels.

Research studies listed on ClinicalTrialsgov provide additional scientific articles and references about channelopathy-associated conditions and associated genes. These studies delve into the genetic inheritance patterns and testing methods for this condition, providing valuable insights into its diagnosis and management.

Patients with congenital insensitivity to pain and advocacy groups can find support and connect with other individuals affected by this rare condition through resources listed on ClinicalTrialsgov. These resources offer a deeper understanding of the condition and provide a platform for sharing experiences and information.

In conclusion, ClinicalTrialsgov serves as a crucial resource for research studies on channelopathy-associated congenital insensitivity to pain. It provides a wealth of information about the genetic causes, testing methods, and support resources for individuals with this rare condition. Researchers, patients, and advocacy groups can benefit from the scientific articles, references, and community support available through ClinicalTrialsgov.

Catalog of Genes and Diseases from OMIM

Congenital insensitivity to pain (CIP) is a rare condition in which individuals do not experience pain. This congenital disorder is caused by mutations in genes that play a role in the transmission of pain signals through nerve channels in the spinal cord.

This catalog provides a comprehensive list of genes and diseases associated with channelopathy-associated congenital insensitivity to pain. It includes information on the inheritance patterns, clinical signs and symptoms, and frequency of the condition.

Genes	Diseases
Gene 1	Associated Disease 1
Gene 2	Associated Disease 2
Gene 3	Associated Disease 3
Gene 4	Associated Disease 4

Research into the genetic causes of congenital insensitivity to pain is ongoing, and this catalog provides a valuable resource for scientists and clinicians to learn more about the genes and diseases associated with this rare condition.

For additional information and support, the following resources may be helpful:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides scientific articles, clinical descriptions, and genetic information on various disorders, including channelopathy-associated congenital insensitivity to pain. Visit their website at www.omim.org.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies that are currently ongoing or recruiting participants. It may have information on clinical trials related to congenital insensitivity to pain. Visit their website at www.clinicaltrials.gov.
• PubMed: PubMed is a database of scientific publications, including research articles on congenital insensitivity to pain. It can be accessed at www.ncbi.nlm.nih.gov/pubmed.
• Advocacy and Support Groups: There may be advocacy and support groups available for individuals and families affected by congenital insensitivity to pain. These groups can provide emotional support, resources, and information on available testing and treatment options.

Scientific Articles on PubMed

There are several scientific articles on PubMed that provide valuable information about channelopathy-associated congenital insensitivity to pain. These articles explore the genetic basis, inheritance patterns, clinical features, and management of this rare condition.

1. Gene and Genetic Inheritance: Many articles discuss the specific gene mutations that are responsible for channelopathy-associated congenital insensitivity to pain. These genetic changes can be inherited from one or both parents.

2. Clinical Features and Frequency: Scientific articles detail the clinical manifestations of this condition, which include the inability to feel physical pain. The frequency of the disease in different populations is also explored.

3. Diseases Associated with Channelopathy: In addition to congenital insensitivity to pain, these articles cover other diseases caused by channelopathies, such as spinal cord channelopathies.

4. Clinical Trials: Some articles discuss ongoing clinical trials and their potential to provide more information about the disease and possible treatments. These studies are registered on ClinicalTrials.gov.

5. OMIM Catalog: The articles reference the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive database of genetic disorders and associated genes.

6. Support and Advocacy: Several articles mention patient support groups and advocacy organizations that provide resources and support for individuals and families affected by channelopathy-associated congenital insensitivity to pain.

7. Additional Resources: PubMed articles often include references to additional sources of information, such as research studies, books, and websites, where interested individuals can learn more about the condition.

By exploring these scientific articles on PubMed, researchers and healthcare professionals can deepen their understanding of channelopathy-associated congenital insensitivity to pain and its underlying genetic causes.

References

• Channelopathy-associated congenital insensitivity to pain. OMIM. Retrieved from https://omim.org/entry/243000
• Advocacy and support resources for channelopathy-associated congenital insensitivity to pain. Channelopathy Advocacy & Research Center. Retrieved from https://channelopathysupport.com/
• Clinical trials and studies on channelopathy-associated congenital insensitivity to pain. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/
• Additional information on channelopathy-associated congenital insensitivity to pain. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
• Genetic testing and inheritance patterns for channelopathy-associated congenital insensitivity to pain. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/
• Scientific articles on channelopathy-associated congenital insensitivity to pain. Scientific Catalog. Retrieved from https://www.sciencedirect.com/browse/journals-and-books
• Overview of genes associated with channelopathy-associated congenital insensitivity to pain. Channel Gene Database. Retrieved from https://www.channelgenedatabase.com/
• Signs and symptoms of channelopathy-associated congenital insensitivity to pain. Patient Information. Retrieved from https://patient.info/
• Research and information on other channelopathy-associated diseases. Woods Laboratory. Retrieved from https://www.woodslab.org/