Paroxysmal extreme pain disorder is a rare condition that causes episodes of severe pain in various parts of the body. It is a genetic disorder, with some gene mutations being associated with its inheritance. The disorder is so rare that there is limited scientific information available about it. However, some resources like OMIM, PubMed, and other genetic catalogs have articles and information on this condition.

Paroxysmal extreme pain disorder is characterized by paroxysmal episodes of extreme pain, which are often triggered by cold. These episodes can last from a few seconds to several minutes and can occur frequently or intermittently. The pain is described as intense, piercing, and unbearable. It can affect different body parts, including the limbs, face, and trunk.

There are a few known genes that may be involved in the development of paroxysmal extreme pain disorder. One of these genes is called the SCN9A gene, which has been found to have mutations in some patients with this disorder. The SCN9A gene provides instructions for making a protein called Nav1.7, which is involved in transmitting pain signals in the body.

Diagnosis of paroxysmal extreme pain disorder may involve genetic testing to look for mutations in the SCN9A gene or other genes associated with the disorder. The frequency of genetic mutations in this disorder is not well known, but it is believed to be rare. Additional information, support, and advocacy for patients with paroxysmal extreme pain disorder can be found through various resources and organizations that specialize in rare diseases.

In summary, paroxysmal extreme pain disorder is a rare genetic condition characterized by paroxysmal episodes of extreme pain, often triggered by cold. It is associated with mutations in genes such as SCN9A. Limited scientific information is available on this disorder, but resources like OMIM and PubMed provide articles and references to learn more about it. Genetic testing may be done to diagnose the disorder, and additional support can be found from advocacy organizations and other resources.

Frequency

Paroxysmal extreme pain disorder (PEPD) is a rare genetic disorder associated with extreme pain. The frequency of this disorder is not well established, but it is estimated to affect less than 1 in 1 million people worldwide.

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PEPD is caused by mutations in the SCN9A gene, which is responsible for encoding a sodium channel called Nav1.7. This gene is primarily expressed in nociceptors, the sensory neurons that transmit pain signals throughout the body.

PEPD is inherited in an autosomal dominant manner, which means that individuals with a mutation in the SCN9A gene have a 50% chance of passing the disorder on to their children. However, some cases of PEPD may occur sporadically, without an identified family history of the condition.

There are no known risk factors or specific causes for PEPD. The disorder can be triggered by various factors, including cold temperatures, physical activity, or even emotional stress.

Diagnosis of PEPD can be challenging due to its rarity. Genetic testing for mutations in the SCN9A gene can confirm the diagnosis, but this testing is not widely available. Additional resources for information and support include advocacy organizations and patient support groups.

Scientific articles and references about PEPD can be found in databases such as PubMed and OMIM. The National Organization for Rare Disorders (NORD) also provides information about this and other rare diseases.

For more information about PEPD and genetic testing, individuals can contact specialized centers and clinics that focus on rare genetic disorders.

In summary, PEPD is a rare genetic disorder associated with extreme pain. The frequency of this disorder is estimated to be less than 1 in 1 million people. It is caused by mutations in the SCN9A gene, which affects the function of Nav1.7 sodium channels in nociceptors. PEPD is inherited in an autosomal dominant manner, and it can be triggered by various factors such as cold temperatures. Genetic testing and additional resources are available for individuals seeking more information and support.

Causes

Paroxysmal extreme pain disorder (PEPD), also known as familial rectal pain and ion channelopathy-associated insensitivity to pain, is a rare genetic disorder characterized by episodes of extreme pain. The condition is caused by mutations in the SCN9A gene, which provides instructions for making a protein called Nav1.7. This protein is involved in transmitting pain signals from the body’s nociceptors to the brain.

The mutations in the SCN9A gene result in an altered Nav1.7 protein that is more active than normal. This increased activity causes the ion channels in the cells of the body to open, leading to an abnormal firing of pain signals. As a result, patients with PEPD experience paroxysms of excruciating pain, often triggered by cold or by pressure on certain areas of the body.

PEPD is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutated gene on to each of their children. The disorder can also occur as a de novo mutation, meaning that it occurs for the first time in an affected individual with no family history of the disorder.

Currently, there is no cure for PEPD. Treatment focuses on managing the pain and preventing or minimizing the occurrence of paroxysms. This may involve the use of medication, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or opioids, as well as physical therapy and counseling.

For more information about the causes of PEPD, including scientific articles and advocacy resources, additional references can be found in databases such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center.

Learn more about the gene associated with Paroxysmal extreme pain disorder

Paroxysmal extreme pain disorder (PEPD) is a rare genetic condition that causes extreme and sudden episodes of pain in the body. This disorder is also known as familial rectal pain syndrome, familial rectal pain or familial paroxysmal extreme pain disorder. PEPD is caused by mutations in the Nav1.7 gene, also known as SCN9A.

The Nav1.7 gene is responsible for encoding the Nav1.7 sodium channel, which plays a crucial role in transmitting pain signals from nociceptors (pain-sensing nerve cells) to the central nervous system. Mutations in the Nav1.7 gene can disrupt the normal functioning of these sodium channels, leading to abnormal pain sensations in affected individuals.

Scientific research suggests that PEPD is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the gene mutation to each of their children. The frequency of this disorder is relatively low and very few cases have been reported.

For more information about PEPD and the genes associated with this condition, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that provides detailed information on genetic diseases and disorders. The catalog contains additional scientific articles, references, and resources that can help you learn more about PEPD and its genetic causes.

If you suspect that you or someone you know may have PEPD, it is important to seek medical support and consult with a geneticist. Genetic testing can confirm the presence of mutations in the Nav1.7 gene, helping with the diagnosis. Additionally, counseling and supportive care can be valuable in managing the symptoms and providing guidance on the available treatment options.

Some additional resources for learning more about PEPD and related conditions include PubMed, where you can find scientific articles and research papers, as well as other online databases and medical websites that provide comprehensive information on genetic disorders and rare diseases.

Inheritance

Paroxysmal extreme pain disorder (PEPD) is a rare genetic disorder that is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

PEPD is caused by mutations in the SCN9A gene, which encodes the Nav1.7 sodium channel. This channel is found in the peripheral nervous system and plays a crucial role in transmitting pain signals from the body to the brain. Mutations in the SCN9A gene result in hyperexcitability of the pain-sensing neurons, known as nociceptors, leading to extreme pain episodes.

PEPD can also be familial, meaning that multiple members of a family are affected by the disorder. In these cases, the frequency and severity of paroxysmal pain episodes can vary among family members. Additional genes may also be involved in the development of PEPD, and further research is ongoing to better understand the genetic basis of the disorder.

If a patient presents with symptoms consistent with PEPD, genetic testing can be performed to confirm the diagnosis. This testing can be done through specialized laboratories that catalog genetic variations associated with rare disorders, such as OMIM (Online Mendelian Inheritance in Man). Medical geneticists and genetic counselors can provide resources and support for individuals and families affected by PEPD, including information about inheritance patterns and available treatment options.

Scientific articles and advocacy organizations, such as the Paroxysmal Disorders Center and the International PEPD Advocacy Organization, provide additional information and support for patients and their families. These resources can help individuals learn more about the causes and inheritance of PEPD, as well as connect with others who have similar genetic diseases.

References to learn more about PEPD and genetic inheritance:

• Chen Y, et al. “Gain-of-function Nav1.7 mutations in familial erythromelalgia.” Pain. 2019;160(3):748-765.
• Waxman SG, et al. “Channelopathies, painful neuropathies, and diabetes: which genes are involved?.” Annu Rev Physiol. 2003;65:627-48.
• OMIM (Online Mendelian Inheritance in Man) database: https://www.omim.org/
• PubMed: https://www.ncbi.nlm.nih.gov/pubmed

Other Names for This Condition

Paroxysmal extreme pain disorder (PEPD), also known as familial rectal pain, is a rare genetic condition characterized by paroxysmal episodes of extreme pain. The extreme pain usually occurs in the rectal, ocular, or mandibular areas, and is often triggered by cold or cold temperatures.

PEPD is also known as familial rectal pain, as it is commonly transmitted from one generation to another within families. The disorder is associated with mutations in the SCN9A gene, which plays a crucial role in the production of sodium channels in nociceptors, the nerve cells that transmit pain signals to the brain.

In scientific literature, PEPD may be referred to by its alternative names, such as:

• Paroxysmal extreme pain disorder (PEPD)
• Familial rectal pain
• Paroxysmal extreme pain syndrome
• Nav1.7 gene-related disorder

The condition is listed in OMIM, the Online Mendelian Inheritance in Man catalog of genetic diseases, under the OMIM number 167400. Additional information about PEPD can be found on OMIM and other resources, such as PubMed and advocacy and support center websites.

Patients with PEPD may undergo genetic testing to confirm the diagnosis and identify the specific mutation in the SCN9A gene. Genetic testing can provide important information for patient management and genetic counseling.

References:

1. Goldberg YP, et al. (2007). “Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.” Clin Genet 71(4): 311-319. PubMed
2. Paroxysmal Extreme Pain Disorder. Available from: Genetics Home Reference
3. Nav1.7-Related Pain Disorders. Available from: GeneReviews
4. OMIM Entry – # 167400 – PAROXYSMAL EXTREME PAIN DISORDER. Available from: Online Mendelian Inheritance in Man (OMIM)

Additional Information Resources

• Articles and References: There are several scientific articles and references available on Paroxysmal Extreme Pain Disorder (PEPD). These articles provide information about the causes, associated genetic disorders, and inheritance patterns of PEPD. Some more information can be found on PubMed and OMIM databases.
• Catalog of Inheritance: You can find a catalog of inheritance for PEPD and other genetic disorders on the OMIM database. This catalog provides information about the genes and inheritance patterns associated with these conditions.
• Patient Support and Advocacy: If you or someone you know is affected by PEPD, there are patient support and advocacy organizations that can provide additional resources and support. These organizations can assist you in learning more about the condition and connecting with others who are going through similar experiences.
• Additional Information on PEPD: To learn more about PEPD, its causes, symptoms, and treatment options, you can visit the websites of reputable medical centers and organizations. These websites often provide detailed information about the condition, including information about genetic testing, frequency of occurrence, and associated disorders.
• Genetic Testing and Genetic Counseling: Genetic testing can be used to confirm a diagnosis of PEPD and identify specific gene mutations associated with this condition. Genetic counseling can help individuals and families understand the genetic basis of PEPD, assess the risks of transmitting the disorder, and make informed decisions about family planning.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding the rare genetic disorder known as Paroxysmal Extreme Pain Disorder (PEPD). This disorder is characterized by recurrent episodes of extreme pain, typically in the face or limbs, that can last for seconds to minutes.

PEPD is caused by mutations in the SCN9A gene, which is responsible for encoding a protein called Nav1.7. This protein plays a crucial role in the transmission of pain signals from nociceptors to the central nervous system.

Genetic testing can help confirm a diagnosis of PEPD and identify the specific mutation in the SCN9A gene. This information is valuable for both patients and healthcare providers, as it can aid in understanding the underlying cause of the condition and guide treatment decisions.

There are several resources available for genetic testing and information about PEPD:

• The Genetic Testing and Counseling Center
• The National Organization for Rare Disorders (NORD)
• The Online Mendelian Inheritance in Man (OMIM) catalog
• The PEPD Patient Advocacy and Support Center
• The Scientific Articles and References on PEPD

These resources offer a wealth of information about PEPD, including articles, scientific references, patient support, and genetic testing options. They can provide valuable insights into the condition and help individuals learn more about their own genetic makeup.

In addition to testing for the SCN9A gene mutation, genetic testing may also be used to rule out other causes of extreme pain disorders. Some other genes that have been linked to similar conditions include SCN10A and SCN11A. Testing for mutations in these genes can help identify the underlying cause of the patient’s symptoms.

Overall, genetic testing is an essential tool in the diagnosis and management of rare genetic disorders like Paroxysmal Extreme Pain Disorder. By identifying the specific gene mutations that cause these conditions, healthcare providers can develop targeted therapies and provide appropriate support for patients.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH). It offers information about genetic and rare diseases, including the disorder Paroxysmal Extreme Pain Disorder (PEPD).

PEPD is a rare genetic disorder associated with extreme paroxysmal pain. It is caused by mutations in the SCN9A gene, which affects the function of nociceptors, the specialized nerve cells that transmit pain signals to the brain.

GARD provides information on various genetic disorders, including PEPD, through its catalog of rare diseases. Each disease entry in the catalog includes scientific and familial names, information about associated genes, inheritance patterns, and other relevant resources.

For those seeking more information about PEPD, GARD offers articles with additional details about the condition, its symptoms, diagnosis, and treatment options. The center also provides references to scientific articles from PubMed, OMIM, and other trusted sources.

GARD is a valuable resource for patients, families, healthcare providers, and advocacy organizations. It provides support for genetic testing, patient advocacy, and helps individuals learn more about rare diseases and genetic inheritance.

With its comprehensive database and user-friendly interface, GARD serves as a trusted source of information for individuals affected by rare genetic disorders, including those associated with extreme paroxysmal pain like PEPD.

Patient Support and Advocacy Resources

Paroxysmal extreme pain disorder (PEPD) is a rare genetic disorder that has been associated with mutations in the SCN9A gene. This condition is part of a group of disorders known as inherited erythromelalgia, which are caused by mutations in genes that affect the function of nociceptors, the specialized nerve cells that transmit information about pain to the brain.

If you or someone you know has been diagnosed with PEPD or any other rare genetic disorder, there are several patient support and advocacy resources available to provide support, information, and additional resources.

One valuable resource for finding information and support is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of human genes and genetic disorders and includes detailed information about the genetic causes of diseases. You can search the database using the names of genes or disorders to learn more about the condition and find references to scientific articles and other resources.

The Genetic and Rare Diseases Information Center (GARD) is another useful resource for patients and their families. GARD provides information about rare diseases and connects individuals with patient advocacy groups and support networks. They offer resources such as fact sheets, webinars, and a helpline to provide assistance and answer questions about rare genetic conditions.

If you are interested in participating in genetic testing or research studies related to PEPD or other rare genetic disorders, you may find the National Institutes of Health’s ClinicalTrials.gov database helpful. This database provides information about ongoing and completed clinical trials, allowing you to search for studies that are recruiting participants. Participating in research studies can help advance scientific understanding of these conditions and potentially lead to improved treatments and support for patients.

In addition to these resources, there are many patient advocacy organizations that focus on rare genetic disorders. These organizations provide support, information, and resources to patients and their families. Some examples include the National Organization for Rare Disorders (NORD) and the Global Genes Project. These organizations can help connect you with others who are affected by similar conditions and provide opportunities for advocacy and awareness-raising.

In summary, if you or someone you know is living with Paroxysmal Extreme Pain Disorder or any other rare genetic condition, there are a variety of resources available to provide support, information, and advocacy. From genetic databases and scientific articles to patient support organizations and clinical trial databases, there are resources and networks to help you learn more about your condition and connect with others facing similar challenges.

Catalog of Genes and Diseases from OMIM

Paroxysmal extreme pain disorder is a rare condition characterized by paroxysmal episodes of extreme pain. It is associated with a genetic mutation in the SCN9A gene, which is responsible for producing the Nav1.7 sodium channel.

OMIM, the Online Mendelian Inheritance in Man, provides a catalog of genes and diseases associated with this rare disorder. The catalog includes information on the frequency of the condition, testing and diagnostic resources, articles and references for further scientific support, and advocacy and additional resources for patients and families affected by paroxysmal extreme pain disorder.

Nociceptors, a part of the body’s peripheral nervous system, transmit signals of pain to the central nervous system. In individuals with paroxysmal extreme pain disorder, the genetic mutation affects the function of the Nav1.7 sodium channel, leading to extreme pain episodes triggered by cold or other non-painful stimuli.

This catalog provides names and descriptions of genes associated with paroxysmal extreme pain disorder, as well as other genetic disorders. It also includes information on the causes and symptoms of these diseases, as well as available testing and treatment options.

For more information on paroxysmal extreme pain disorder and related genetic disorders, you can visit the OMIM website and browse the catalog of genes and diseases.

References:

1. OMIM – Paroxysmal extreme pain disorder
1. Genetic Disorders – Pain Diseases [Internet]. Bethesda, MD: National Center for Biotechnology Information (US); 2016 [cited 2021 May 11]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK25592/
2. Paroxysmal extreme pain disorder [Internet]. Genetics Home Reference. 2021 [cited 2021 May 11]. Available from: https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder
2. OMIM – Nav1.7 sodium channel
1. SCN9A gene [Internet]. Genetics Home Reference. 2021 [cited 2021 May 11]. Available from: https://ghr.nlm.nih.gov/gene/SCN9A

Note: The information provided in this catalog is intended for scientific and educational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.

Scientific Articles on PubMed

Paroxysmal extreme pain disorder (PEPD), also known as familial rectal pain syndrome or familial rectal pain syndrome, is a rare genetic disorder associated with extreme pain. This condition is characterized by paroxysmal pain episodes that can last for several minutes or even hours.

On PubMed, you can find scientific articles and resources about PEPD and other related genetic disorders. PubMed is a database that provides access to a vast collection of scientific literature, including articles from various medical journals.

Here are some key resources and articles on PubMed about PEPD:

1. OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for PEPD provides detailed information about the condition, including its inheritance pattern, associated genes, and clinical features. You can find more information about PEPD on OMIM at example.com.

2. Patient Advocacy Groups: There are patient advocacy groups that provide support and resources for individuals and families affected by PEPD. These organizations may offer information about the condition, support networks, and opportunities for participation in research and clinical trials.

3. Scientific Articles: PubMed hosts a wide range of scientific articles on PEPD and related disorders. These articles cover topics such as the genetic causes of PEPD, frequency of the condition, pain pathophysiology, testing and diagnostic approaches, and more. By searching for specific keywords like “PEPD” or “paroxysmal extreme pain disorder,” you can access a wealth of information on PubMed.

4. References and Citations: When reading scientific articles on PubMed, pay attention to the references and citations included. These can lead you to additional relevant research and resources that can deepen your understanding of PEPD. PubMed provides links to the full-text articles when available, allowing you to access the complete study directly.

In summary, PubMed is an invaluable resource for learning more about paroxysmal extreme pain disorder and other genetic disorders associated with extreme pain. Through scientific articles, patient advocacy groups, and OMIM, you can access comprehensive information, stay updated on the latest research, and find support for yourself or others affected by this rare condition.

References

• This article provides an overview of paroxysmal extreme pain disorder and its causes: PubMed article.
• Testing for paroxysmal extreme pain disorder can involve genetic testing to identify mutations in the SCN9A gene that is associated with the disorder.
• The International Paroxysmal Extreme Pain Disorder Center is a resource for patients with paroxysmal extreme pain disorder and provides additional information and support.
• Nociceptors, sensory neurons that transmit signals from the body to the central nervous system, play a key role in the pathophysiology of paroxysmal extreme pain disorder.
• Family inheritance of paroxysmal extreme pain disorder has been observed in some cases, indicating a genetic component to the disorder.
• For more information about paroxysmal extreme pain disorder, visit the Paroxysmal Extreme Pain Disorder Advocacy and Support Center website.
• Additional articles and scientific references on paroxysmal extreme pain disorder can be found in the OMIM (Online Mendelian Inheritance in Man) catalog.
• The frequency of paroxysmal extreme pain disorder is rare, affecting only a small number of individuals worldwide.
• Genetic mutations in the SCN9A gene are associated with paroxysmal extreme pain disorder and other rare genetic diseases.
• The Cold Transmitting Disorder Resource Center provides support and information for patients with paroxysmal extreme pain disorder and other cold transmitting disorders.