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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic condition that affects the nerve pathways responsible for sensation and the regulation of body temperature. It is typically inherited in an autosomal recessive manner, meaning that both copies of a specific gene must be mutated in order for the condition to be present in an individual. CIPA is characterized by the inability to feel pain, along with an inability to sweat or regulate body temperature.

Research studies have identified specific gene mutations associated with CIPA, including the SCN9A gene. This gene provides instructions for making a protein involved in the transmission of pain signals in the body. Mutations in the SCN9A gene can prevent the production of the protein, leading to the loss of pain sensation. Additional genes have also been identified, and ongoing research continues to uncover more about the genetic causes of CIPA.

Clinical manifestations of CIPA often occur in infancy, as affected infants do not display normal reactions to pain. They may have injuries or wounds that go unnoticed due to the lack of pain sensation. The absence of sweating can also lead to overheating, particularly in hot environments. The combination of insensitivity to pain and anhidrosis can result in a variety of health challenges, including joint problems, self-inflicted injuries, and difficulty maintaining a normal body temperature.

Diagnosis of CIPA is typically based on clinical findings and genetic testing. Genetic testing can identify mutations in the genes associated with CIPA, confirming the diagnosis. However, the condition is extremely rare, making it challenging to receive an accurate diagnosis. Various resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed articles, provide more information about CIPA and the associated genetic mutations.

Currently, there is no cure for CIPA. Treatment focuses on managing the symptoms and preventing complications. This may involve physical therapy to address joint problems, regular monitoring of body temperature, and ongoing support and education for the patient and their family. Clinical trials may also be available to explore potential treatments and interventions for CIPA. Organizations such as the Hereditary Neuropathy Foundation and the Center for the Study of Congenital Anomalies provide support, advocacy, and resources for individuals with CIPA and their families.

Frequency

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder characterized by the inability to feel pain and the inability to sweat. The condition is also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV).

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

The frequency of CIPA is very low. It is estimated to affect approximately 1 in every 125,000 births worldwide. CIPA is more commonly seen in certain populations, such as people of Ashkenazi Jewish descent, where the frequency can be as high as 1 in 3,600 births.

The genetic studies conducted on CIPA patients have identified mutations in the PRDM12 gene as the primary cause of the condition. These mutations result in the lack of production or malfunctioning of the PRDM12 protein, which is necessary for the development and function of pain-sensing neurons and sweat glands.

Due to the rarity of CIPA and the complex genetic inheritance pattern (autosomal recessive), it is often misdiagnosed or undiagnosed. Genetic testing is available to confirm the diagnosis, and it is recommended for individuals showing symptoms of the condition.

Additional information and resources for CIPA can be found on websites like OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov. These resources provide scientific articles, research studies, patient advocacy groups, and information about ongoing clinical trials related to CIPA.

In summary, CIPA is a rare genetic condition with a high frequency in certain population groups. It is caused by mutations in the PRDM12 gene and leads to the inability to feel pain and sweat. Genetic testing is essential for accurate diagnosis, and various resources are available to learn more about the condition and find support.

Causes

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder that is inherited in an autosomal recessive manner. The condition is often caused by mutations in the gene called “NTRK1” (neurotrophic receptor tyrosine kinase 1), which is responsible for producing a protein called “TRKA” (tropomyosin receptor kinase A).

The NTRK1 gene provides instructions for making the TRKA protein, which is involved in the development and function of nerve cells. Mutations in this gene can lead to a loss of function of the TRKA protein, resulting in the symptoms of CIPA.

CIPA is also known by other names, such as hereditary sensory and autonomic neuropathy type IV (HSAN IV) and hereditary sensory and autonomic neuropathy with anhidrosis.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about the genetic causes of various diseases, including CIPA. Currently, there are citations for scientific articles and patient resources available on the OMIM website.

Research studies and clinical trials are ongoing to learn more about the causes and inheritance of CIPA. The ClinicalTrials.gov website contains information about these studies, including their current status and contact information for participating centers.

Genetic testing can be done to confirm a diagnosis of CIPA. This testing typically looks for mutations in the NTRK1 gene. However, it is important to note that not all cases of CIPA are caused by mutations in this gene, and other genes may also be associated with the condition.

Additional resources and support for people with CIPA and their families can be found through advocacy organizations and support groups. These organizations can provide information about the condition, genetic testing, and research advancements. PubMed is a valuable resource for accessing scientific articles and references related to CIPA and other rare diseases.

In summary, CIPA is a rare condition characterized by congenital insensitivity to pain and anhidrosis. The condition is typically inherited in an autosomal recessive manner and is often caused by mutations in the NTRK1 gene. However, other genetic causes may also be associated with the condition. Genetic testing and resources from advocacy organizations and research centers can provide more information about the condition and support for affected individuals and their families.

See also  SLC12A1 gene

Learn more about the gene associated with Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary condition characterized by the inability to feel pain and the inability to sweat (anhidrosis). This condition is often caused by mutations in the gene called “This, Robinow, and Prader-Willi Syndrome” (TRPS1).

The TRPS1 gene provides instructions for making a protein that is involved in the development of many tissues and organs, including the nervous system. Mutations in the TRPS1 gene can disrupt the normal functioning of the protein, leading to the symptoms of CIPA.

The inheritance pattern of CIPA is autosomal recessive, which means that both copies of the TRPS1 gene must be mutated in order for a person to have the condition. People with one mutated copy of the gene are carriers and typically do not show symptoms of CIPA.

If you are interested in learning more about the TRPS1 gene and its association with CIPA, there are several resources available:

  • The National Center for Biotechnology Information (NCBI) maintains a database called OMIM (Online Mendelian Inheritance in Man) that provides detailed information about the TRPS1 gene and its associated conditions. You can find more information about CIPA and TRPS1 on OMIM by searching for the specific gene name or condition name.
  • The Genetic and Rare Diseases Information Center (GARD) also provides comprehensive information about CIPA and TRPS1. GARD is a resource of the National Institutes of Health (NIH) and provides information and resources for patients and their families, healthcare professionals, and researchers.
  • PubMed is a scientific database that contains a vast collection of published research articles. Searching for “TRPS1” or “CIPA” on PubMed can help you find additional scientific studies and research papers about the TRPS1 gene and its association with CIPA.
  • The ClinicalTrials.gov website lists ongoing clinical trials and research studies related to various medical conditions, including CIPA. Searching for “CIPA” or “TRPS1” on ClinicalTrials.gov can provide you with information about current studies and research opportunities.
  • The Human Gene Mutation Database (HGMD) is a comprehensive catalog of gene mutations associated with various genetic disorders. Searching for “TRPS1” on HGMD can provide you with additional information about known mutations in the TRPS1 gene.

By exploring these resources, you can learn more about the TRPS1 gene and its association with CIPA, as well as find support and additional information for patients and their families.

Inheritance

Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder. It is a rare genetic condition characterized by the inability to feel pain and the inability to sweat (anhidrosis). CIPA is also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV) and is listed as such in the Online Mendelian Inheritance in Man (OMIM) catalog.

CIPA is caused by mutations in the NTRK1 gene, which codes for a protein called TrkA. This protein is typically found on the surface of nerve cells and is crucial for the development and survival of these cells. Mutations in the NTRK1 gene result in a non-functional or absent TrkA protein, leading to the symptoms seen in CIPA patients.

Inheritance of CIPA follows an autosomal recessive pattern. This means that both copies of the NTRK1 gene must be mutated in order for an individual to be affected by the disorder. People who have only one mutated copy of the gene are carriers of the condition, but typically do not show any symptoms.

CIPA is a very rare condition, with a frequency of about 1 in 1 million people. Due to its rarity, there is limited information available about the inheritance and genetic testing for CIPA. However, research studies and clinical trials are ongoing to learn more about the condition and its genetic causes.

For more information about CIPA, inheritance, and genetic testing, you can visit the National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center or search for relevant articles on PubMed. Additionally, the CIPA Foundation provides support and advocacy for individuals and families affected by CIPA.

Other Names for This Condition

  • Congenital insensitivity to pain with anhidrosis
  • Hereditary sensory and autonomic neuropathy type IV
  • CIPA
  • HSAN IV
  • Hereditary sensory and autonomic neuropathy type 4
  • Hereditary sensory and autonomic neuropathy type IV
  • Autosomal recessive neuropathy with congenital insensitivity to pain and anhidrosis
  • Autosomal recessive congenital insensitivity to pain with anhidrosis
  • Autosomal recessive hereditary sensory and autonomic neuropathy type IV
  • Autosomal recessive neuropathy with congenital insensitivity to pain and anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic condition characterized by the inability to feel pain and the inability to sweat (anhidrosis). It is an autosomal recessive disorder, meaning that both parents must carry the genetic mutation for their child to be affected.

In addition to the lack of pain sensation and anhidrosis, people with CIPA may also have joint abnormalities and difficulty regulating body temperature. These symptoms typically appear in infancy or early childhood.

Scientific studies have shown that CIPA is caused by mutations in certain genes involved in the production of a protein critical for the development and function of nerve cells, particularly those involved in pain perception and the regulation of sweating.

Testing for CIPA can be done through specialized genetic testing centers and clinical trials. Additional resources and support can be found through advocacy organizations and websites that provide information on this rare condition.

For more information, references, and research articles on CIPA, you can visit the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the ClinicalTrials.gov website.

Additional Information Resources

Here is a list of resources that provide additional information on Congenital insensitivity to pain with anhidrosis:

See also  Familial restrictive cardiomyopathy

These resources can provide more information on the genes associated with Congenital insensitivity to pain with anhidrosis, testing options, inheritance patterns, research updates, and support for patients and their families.

Genetic Testing Information

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited condition characterized by the inability to feel pain and the inability to sweat. It is also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV). CIPA is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Genetic testing is available for individuals suspected of having CIPA. The testing involves analyzing the patient’s DNA to identify mutations in the SCN9A gene, which is the gene known to cause CIPA. In some cases, additional genes may also be analyzed, as there are other rare genetic conditions that can cause similar symptoms.

Studies have shown that mutations in the SCN9A gene cause a loss of function in a protein called Nav1.7. This protein plays a key role in transmitting pain signals and regulating sweat production. The loss of function of Nav1.7 leads to the absence of pain perception and the inability to sweat in individuals with CIPA.

Genetic testing for CIPA can provide important information for patients and their families. It can confirm a diagnosis, provide information about the inheritance pattern of the condition, and allow for genetic counseling. Additionally, genetic testing can help identify other family members who may also be at risk of having CIPA.

There are several resources available for individuals interested in learning more about genetic testing for CIPA. The Online Mendelian Inheritance in Man (OMIM) and PubMed are reliable sources for scientific articles and research studies on the condition. The National Institutes of Health’s Genetic Testing Registry (GTR) and the ClinicalTrials.gov website provide information about clinical trials and genetic testing centers that offer testing for CIPA.

In conclusion, genetic testing is an important tool in the diagnosis and management of CIPA. It can provide valuable information for patients, their families, and healthcare providers. By understanding the genetic basis of the condition, individuals with CIPA can receive appropriate care and support, and researchers can continue to learn more about this rare condition.

Genetic and Rare Diseases Information Center

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is a rare genetic condition. It is typically inherited in an autosomal recessive manner, meaning both copies of the gene must be mutated for the condition to be present.

People with CIPA are born with a lack of sensitivity to pain, inability to sweat (anhidrosis), and difficulties regulating body temperature. These symptoms often become apparent in early infancy or childhood.

The main cause of CIPA is mutations in the SCN9A gene, which codes for a protein involved in the transmission of pain signals. Additional genes have also been associated with the condition, including NTRK1 and NGF.

Diagnosis of CIPA can be made through clinical evaluation and genetic testing. Testing for CIPA may involve analyzing specific genes associated with the condition, such as SCN9A. Genetic testing can also help determine the inheritance pattern of the condition.

There is currently no cure for CIPA, and treatment options focus on managing symptoms and preventing complications. Careful monitoring of body temperature and avoiding extreme temperatures are important for individuals with CIPA.

For more information about CIPA, the genetic and rare diseases information center (GARD) provides a catalog of resources, including articles, scientific studies, and additional information about the condition. The OMIM database, PubMed, and clinicaltrials.gov are other valuable resources for learning more about CIPA.

References:

  • “Congenital Insensitivity to Pain with Anhidrosis.” GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 2000-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1769/
  • “Congenital insensitivity to pain with anhidrosis (HSAN IV).” Rare Diseases. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/congenital-insensitivity-to-pain-with-anhidrosis-hsan-iv/
  • “Congenital insensitivity to pain with anhidrosis.” Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences, National Institutes of Health. Available from: https://rarediseases.info.nih.gov/diseases/6751/congenital-insensitivity-to-pain-with-anhidrosis

Patient Support and Advocacy Resources

Patients with Congenital insensitivity to pain with anhidrosis (CIPA) face unique challenges due to this rare genetic condition. It is often difficult for them to find the necessary support and resources to manage their condition effectively. Fortunately, there are several patient support and advocacy resources available to help individuals and their families navigate through these challenges.

Rare Disease Advocacy Organizations:

  • Rare Diseases.org: A global advocacy organization that provides information and support for individuals with rare diseases. They have a dedicated section for CIPA and other neuropathies.
  • Genetic and Rare Diseases (GARD) Information Center: An information center funded by the National Institutes of Health (NIH) that provides comprehensive resources on genetic and rare diseases. They offer information on the causes, inheritance patterns, and management of CIPA.

Scientific Research and Publications:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders that provides information on the genetic basis of CIPA.
  • PubMed: A database of scientific articles that can be used to research the latest studies and clinical trials related to CIPA.

Genetic Testing and Counseling:

  • ClinicalTrials.gov: A registry of clinical trials that allows individuals with CIPA to find and participate in studies testing potential treatments or management strategies for the condition.
  • Genetic Counseling: Genetic counselors can provide information and guidance to individuals and families affected by CIPA. They can assist in understanding the genetic basis, inheritance patterns, and available testing options for the condition.
See also  HAMP gene

By utilizing these resources, individuals with CIPA and their families can gain a better understanding of their condition and access the necessary support and information to effectively manage the challenges they face. It is important for them to stay informed about the latest research and advancements in the field to ensure the best possible care and quality of life.

Research Studies from ClinicalTrialsgov

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic condition characterized by the inability to feel pain and the inability to sweat. This autosomal recessive condition affects the autonomic nerve system and is caused by mutations in the gene encoding the nerve growth factor receptor (NGF) protein.

Research studies from ClinicalTrialsgov provide valuable information about the testing and support available for people with CIPA. These studies aim to learn more about the causes, inheritance patterns, and associated complications of this rare condition.

Patients with CIPA often show high pain tolerance and may suffer from complications such as joint abnormalities and neuropathies. Due to the lack of pain sensation, these individuals are at a higher risk of injuries and infections. Therefore, research studies focus on understanding the underlying mechanisms and finding potential treatments for this condition.

ClinicalTrialsgov is a valuable resource for finding ongoing research studies related to congenital insensitivity to pain with anhidrosis. This platform provides additional information about the studies, including their purpose, eligibility criteria, and contact information for enrolling participants.

In addition to research studies, ClinicalTrialsgov also provides scientific articles and references about CIPA and other related genetic disorders. These resources can be used to learn more about the condition, find support and advocacy groups, and stay updated with the latest advancements in the field.

OMIM is another valuable resource that provides comprehensive information about genetic diseases, including CIPA. OMIM offers a catalog of genes, their associated diseases, and inheritance patterns. This information can be useful for researchers, healthcare professionals, and individuals affected by genetic disorders.

PubMed is a widely used database for accessing scientific articles and references. It contains a vast collection of publications related to CIPA, including case studies, research papers, and clinical trials. PubMed can be used to explore more about the clinical presentations, diagnosis, and management of CIPA.

In summary, research studies from ClinicalTrialsgov provide valuable insights into the genetic and clinical aspects of congenital insensitivity to pain with anhidrosis. These studies aim to identify the underlying mechanisms, find potential treatments, and improve the quality of life for individuals with this rare condition. Additional resources like OMIM and PubMed can also support further learning and understanding of CIPA and related genetic disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information about a wide range of genetic diseases, including Congenital Insensitivity to Pain with Anhidrosis (CIPA).

Congenital Insensitivity to Pain with Anhidrosis, also known as hereditary sensory and autonomic neuropathies type IV (HSAN IV), is a rare genetic condition. It is typically inherited in an autosomal recessive manner.

This condition causes insensitivity to pain, lack of ability to sweat (anhidrosis), and abnormal development of the autonomic nervous system. People with CIPA are unable to feel pain and often have injuries, such as burns, cuts, and fractures, which go unnoticed.

The OMIM catalog provides additional information about the genetic causes of CIPA and other associated diseases. It includes the names of genes and their protein products, as well as clinical studies and resources for genetic testing.

Genetic testing is often recommended for diagnosing CIPA and other related neuropathies. This can help confirm the genetic basis of the condition and provide information about the specific gene mutations involved.

The OMIM catalog also provides support for patient advocacy and research efforts. It includes references to scientific articles, resources, and clinical trials related to CIPA and other rare genetic diseases.

Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and people affected by genetic conditions. It helps to enhance our understanding of the genetic basis of diseases and supports efforts to develop effective treatments and interventions.

Scientific Articles on PubMed

  • There is a hereditary condition called Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV).
  • CIPA is a rare genetic disorder typically associated with the loss of pain sensation, inability to sweat, and other autonomic dysfunctions.
  • The condition is caused by mutations in the NTRK1 gene, which encodes a protein essential for the development and function of nerve cells.
  • Clinical studies and research articles on PubMed provide valuable information about this rare condition.
  • Genetic testing can be conducted to confirm the diagnosis of CIPA, with high frequency of disease-causing mutations found in the NTRK1 gene.
  • Additional resources and support can be found through advocacy organizations, such as the Congenital Insensitivity to Pain International, which provide information, clinical trial databases, and patient support.
  • ClinicalTrials.gov is a useful resource for finding ongoing and completed clinical trials related to CIPA and other neuropathies.
  • The OMIM catalog, a comprehensive database of human genes and genetic disorders, also provides information on CIPA and its associated genes.
  • Current research articles on PubMed explore various aspects of CIPA, including its genetic causes, clinical features, and potential treatment options.
  • Scientific articles often show the inheritance patterns and the genetic basis of CIPA, which is autosomal recessive.
  • Learning about CIPA from scientific articles can help healthcare professionals better understand the condition and provide appropriate care for affected individuals.
  • References to scientific articles on PubMed can be cited to support research and provide evidence-based information about CIPA.

References

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