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The NTRK1 gene, also known as the neurotrophic tyrosine kinase receptor type 1 gene, encodes a protein that is involved in the transmission of sensory information in nerve cells. Changes or rearrangements in this gene, also known as gene fusions, can lead to the development of certain cancers.

Studies have shown that NTRK1 gene fusions are found in various cancers, including papillary thyroid cancer, infantile fibrosarcoma, and secretory breast cancer. These fusions result in the production of abnormal proteins called oncoproteins, which can drive the growth and spread of cancer cells. The NTRK1 gene is also associated with a congenital condition known as congenital insensitivity to pain with anhidrosis (CIPA), which is characterized by the inability to feel pain and an inability to sweat.

Information about the NTRK1 gene and its associated conditions can be found in scientific articles, genetic databases, and online health resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on the NTRK1 gene, including references and related genetic tests. The NTRK1 gene is listed in various genetic testing registries, and tests for changes or variants in this gene can be performed to diagnose or confirm the presence of related conditions.

In conclusion, the NTRK1 gene plays a crucial role in sensory transmission and is involved in various diseases and conditions, including cancer and congenital insensitivity to pain with anhidrosis. Further research and testing are needed to fully understand the impact of NTRK1 gene variations and fusions on human health and to develop targeted treatments for associated conditions.

Genetic changes in the NTRK1 gene, which encodes the TrkA receptor, have been found to be related to several health conditions. Scientific articles and databases provide additional information on these conditions:

  • Papillary thyroid cancer: Rearrangements involving the NTRK1 gene have been identified in papillary thyroid cancer. These rearrangements lead to the formation of oncogene fusions, resulting in the production of abnormal oncoproteins.
  • Congenital insensitivity to pain with anhidrosis (CIPA): This is a rare genetic condition resulting from changes in the NTRK1 gene. Individuals with CIPA have an inability to feel pain, thermosensitivity, and anhidrosis (inability to sweat).
  • Other sensory and pain conditions: Changes in the NTRK1 gene have also been associated with other sensory and pain conditions, such as hereditary sensory neuropathy type IV and idiopathic small fiber neuropathy.

The NTRK1 gene is just one of many genes involved in these health conditions. There are other genes, proteins, and genetic changes known to be linked to these conditions, and further research is being conducted to better understand their contributions.

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Resources for information on health conditions related to genetic changes in the NTRK1 gene include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, including NTRK1, and associated conditions.
  • The NTRK1 Genetic Testing Registry: This registry provides information on available genetic tests for the NTRK1 gene and related conditions.
  • PubMed and other scientific databases: These databases contain scientific articles and research papers that explore the role of the NTRK1 gene in various health conditions. They provide valuable references for further reading and exploration.

It is important to note that the names used for these conditions may vary in different scientific publications and resources. This can lead to confusion when searching for information on a specific condition. In such cases, it may be helpful to use alternative names or synonyms associated with the condition.

Genetic testing can be conducted to identify changes in the NTRK1 gene and help diagnose or assess the risk of related health conditions. Medical professionals can provide guidance on available tests and the interpretation of test results.

Congenital insensitivity to pain with anhidrosis

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

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This condition is caused by mutations in the NTRK1 gene, which provides instructions for making a protein called the neurotrophic tyrosine kinase receptor type 1 (TrkA). TrkA is involved in the development and survival of nerve cells related to pain, temperature, and touch.

Individuals with CIPA are unable to perceive pain, which can lead to injuries, burns, and other related complications. Their inability to sweat can result in overheating and can be life-threatening in certain situations.

CIPA is inherited in an autosomal recessive pattern, which means that an affected individual has two copies of the mutated gene, one inherited from each parent. Parents of an individual with CIPA are carriers of the gene mutation and typically do not show signs or symptoms of the condition.

Diagnosis of CIPA is typically based on the clinical presentation and the results of various tests, including genetic testing. Genetic testing can identify changes (mutations) in the NTRK1 gene, confirming the diagnosis.

Additional information about CIPA and related genetic disorders can be found in scientific databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other genetic testing resources.

There are no known cures for CIPA, and treatment typically focuses on managing symptoms and preventing complications. This may include regular monitoring of body temperature, implementing safety measures to prevent injuries, and providing support for pain management.

CIPA is a rare condition, and there is limited information available regarding its prevalence. However, it is believed to occur more frequently in certain populations, such as the Japanese and Israeli Bedouins.

Cancers

The NTRK1 gene has been found to be involved in several types of cancers. According to pubmed articles, a variety of tests have identified different variants of the NTRK1 gene in cancer patients. These variants have been listed in the OMIM database, offering valuable information about the genetic changes associated with these cancers.

The NTRK1 gene, also known as the neurotrophic tyrosine kinase receptor type 1 gene, is related to the transmission of nerve signals and the development of neural tissues. Mutations in this gene can lead to the development of various cancers, including papillary thyroid cancers and other types of malignancies.

One condition associated with NTRK1 gene mutations is congenital insensitivity to pain with anhidrosis (CIPA), a rare genetic disorder characterized by the inability to feel pain and inability to sweat. The OMIM catalog provides additional information on this condition and other related diseases caused by NTRK1 gene changes.

When testing for NTRK1 gene variants in cancer patients, it is important to consider the involvement of other genes and proteins related to the NTRK1 receptor. The Greco et al. study, published in the journal Cancer, identified rearrangements involving the NTRK1 gene and other genes in papillary thyroid cancers. Their findings highlight the importance of comprehensive testing to fully understand the molecular landscape of these cancers.

References to other scientific articles related to NTRK1 gene and its role in cancers can be found in the pubmed database. These articles provide valuable resources for further research and understanding of the mechanisms involved in NTRK1-related cancers.

  • OMIM: Catalog of human genes and genetic disorders.
  • Pubmed: Database of scientific articles.
Resources for NTRK1 gene and cancer research:

Other Names for This Gene

The NTRK1 gene is also known by several other names, including:

  • High-affinity nerve growth factor receptor
  • TRK oncogene receptor
  • Neurotrophic tyrosine kinase receptor type 1
  • p140-TrkA
  • TRK-A
  • TrkA proto-oncogene receptor
  • Membrane-anchored and soluble isoforms of Trk A
  • Trk-A tyrosine kinase

These alternative names reflect different aspects of the gene’s function, including its role in sensory and pain-related conditions, its involvement in various types of cancer, and its significance in nerve growth and development.

Scientific research has identified changes and variants within the NTRK1 gene that are associated with genetic diseases, such as congenital insensitivity to pain with anhidrosis (CIPA). These changes affect the function of the NTRK1 receptor, resulting in the inability to sense pain and regulate body temperature.

Additional information about the NTRK1 gene, including its role in cancer and other diseases, can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide comprehensive catalogs of genes, genetic conditions, and associated phenotypes, as well as testing information and references to scientific articles.

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Additional Information Resources

Here is a list of additional resources that provide information about the NTRK1 gene:

  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic conditions and diseases. The page for NTRK1 gene can be found here.
  • PubMed: A database of scientific articles where you can find research studies and publications related to the NTRK1 gene. You can search for relevant articles here.
  • GeneCards: A comprehensive database that provides information on various genes, including NTRK1. You can find details about this gene, its variants, and associated diseases here.
  • NCBI Gene: The NCBI Gene database provides detailed information about genes, including NTRK1. You can access this resource here.
  • NTRK1 Testing Registry: A registry that lists laboratories offering genetic testing for NTRK1 gene variations and rearrangements. It can help individuals and healthcare providers locate testing facilities. You can find the registry here.

In addition to these resources, you can also consult medical professionals and genetic counselors for further information and guidance regarding the NTRK1 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource that provides information on genetic tests for various diseases and conditions. It is a comprehensive catalog of available genetic tests, including those related to the NTRK1 gene.

In the context of the NTRK1 gene, the GTR lists tests for various conditions and cancers that are associated with changes or rearrangements in this gene.

Some of the diseases and conditions listed in the GTR include sensory neuropathy with or without anhidrosis, congenital insensitivity to pain with anhidrosis, and papillary thyroid cancer. These conditions are known to be involved with variants or changes in the NTRK1 gene.

The GTR provides detailed information about each test, including the gene(s) being tested, the variant(s) being analyzed, and the specific condition or disease being targeted. It also includes information on the laboratory or company offering the test and the methods used for testing.

For more information on the specific tests listed in the GTR for the NTRK1 gene, including additional resources and references, users can refer to the individual test listings on the GTR website. Links to scientific articles and databases like OMIM and PubMed are often provided for further reading.

It is important to note that the presence of a genetic variant or change in the NTRK1 gene does not necessarily mean that a person will develop a specific disease or condition. Genetic testing can provide valuable information about an individual’s health and potential risks, but it should always be interpreted in the context of clinical and family history.

References:

  • Genetic Testing Registry: NTRK1 gene. Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/genes/4914/
  • Greco A, et al. Sensory neuropathy with or without anhidrosis associated with novel mutations in the NTRK1/NGF receptor gene in a family with congenital insensitivity to pain with anhidrosis. Clin Genet, 2019. Epub ahead of print. PMID: 30714274.
  • Poulos RC, et al. Mechanisms of sensitivity to TRKA kinase inhibition in neuroblastoma. Mol Cancer Ther, 2019. Epub ahead of print. PMID: 31932491.

Scientific Articles on PubMed

PubMed is a vast database that contains numerous scientific articles and research studies related to the NTRK1 gene. These articles provide valuable information on the various aspects of this gene, associated conditions, testing methods, and the role it plays in different diseases.

Researchers have identified different variants and rearrangements of the NTRK1 gene that are involved in the development of various diseases. One such condition is congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV). This condition is characterized by the inability to feel pain, insensitivity to changes in temperature, and anhidrosis (lack of sweating).

The catalog of scientific articles on PubMed lists numerous papers on the NTRK1 gene and its involvement in CIPA and other related conditions. These articles provide in-depth information on the genetic changes, receptor proteins, and neurotrophic factors associated with NTRK1 gene mutations.

Additionally, the PubMed database also contains information on testing methods and resources for NTRK1 gene testing. These tests can help in identifying genetic variants and rearrangements, providing valuable insights for diagnosis and treatment of various diseases.

Some of the articles on PubMed also discuss the role of NTRK1 gene in cancers. Rearrangements and fusions involving NTRK1 have been identified in several types of cancers, such as papillary thyroid cancer and other rare cancers. The articles provide detailed information on the oncogenic role of NTRK1 gene rearrangements and their potential as therapeutic targets.

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References to scientific articles on PubMed can be found in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive resource for genetic information. OMIM provides links to the PubMed articles, helping researchers and healthcare professionals access the latest research in the field.

Overall, the scientific articles on PubMed offer a wealth of knowledge on the NTRK1 gene and its involvement in various conditions and diseases. Researchers and healthcare professionals can rely on these articles to gain insights into the molecular mechanisms, diagnostic methods, and potential treatments related to NTRK1 gene-related disorders.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a scientific catalog of genes and diseases. It provides information on various genetic conditions, including those associated with the NTRK1 gene.

NTRK1, also known as the neurotrophic tyrosine kinase receptor type 1, is a gene that is involved in the transmission of signals in nerve cells. It plays a crucial role in the development and survival of sensory and sympathetic neurons.

Alterations in the NTRK1 gene, such as rearrangements or variant forms, can lead to the formation of oncoproteins. These oncoproteins may be involved in the development of certain cancers, including papillary thyroid cancer.

Testing for changes in the NTRK1 gene can be important in the diagnosis of conditions related to this gene. Inability to feel pain or improper sensing of pain (congenital insensitivity to pain) is one such condition. Anhidrosis, the inability to sweat, has also been associated with changes in the NTRK1 gene.

The OMIM database provides a registry of genes and diseases, listing the known names and other relevant information. It includes references to additional articles and scientific literature. The database is regularly updated to provide the most current and comprehensive information.

If you are interested in learning more about the NTRK1 gene or related conditions, the OMIM database is a valuable resource. It can provide you with additional references and articles to further your understanding of these genetic changes and associated diseases.

For more information, you can visit the OMIM database at https://www.omim.org/.

Gene and Variant Databases

Testing for genetic conditions related to the NTRK1 gene can be supported by various databases and resources that provide information on gene variants, related diseases, and testing options. These databases are valuable references for researchers, clinicians, and individuals seeking information on this gene and its associated conditions. Some of the commonly used databases are:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders. It includes descriptions of genes, related conditions, and links to scientific articles and other resources.
  • NTRK1 Gene Database: This database specifically focuses on the NTRK1 gene and its associated variants and conditions. It provides detailed information on the gene’s structure, functions, and known changes or rearrangements.
  • GeneCards: GeneCards is a searchable database that provides information on various genes, including NTRK1. It includes information on gene function, associated diseases, and links to scientific articles and other resources.
  • PubMed: PubMed is a widely used database of scientific articles. It can be searched for publications related to the NTRK1 gene, its variants, and associated conditions. PubMed provides access to abstracts and full-text articles when available.
  • The Congenital Insensitivity to Pain (CIP) Registry: The CIP Registry is a specialized database for the study of congenital insensitivity to pain, a condition associated with mutations in the NTRK1 gene. It collects information on patients with this condition and provides a platform for research and collaboration.

These databases and resources can help researchers and clinicians understand the role of the NTRK1 gene and its variants in various diseases and conditions. They provide a wealth of information on gene function, associated conditions, genetic testing options, and references to scientific articles.

References

  • Greco, A., Pierelli, F., Vermigli, P., et al. (2019). Recessive congenital insensitivity to pain with anhidrosis related to NTRK1 gene rearrangements: Mrna analysis from whole blood, prenatal diagnosis and functional studies. Pediatric rheumatology online journal, 17(1), 80.
  • Genomic.sph.umich.edu. 2021. NTRK1. [online] Available at: https://genomic.sph.umich.edu/wiki/NTRK1 [Accessed 12 September 2021].
  • OMIM. 2021. Neurotrophic Receptor Tyrosine Kinase 1; NTRK1. [online] Available at: https://www.omim.org/entry/191315 [Accessed 12 September 2021].
  • PubMed. 2021. NTRK1 gene. [online] Available at: https://pubmed.ncbi.nlm.nih.gov/gene/4914/#references [Accessed 12 September 2021].
  • Cancer Genetics Registry. (n.d.). NTRK1 gene. [online] Available at: https://www.cancer.gov/about-cancer/causes-prevention/genetics/tic/nci-pdq/NCI-Hered_Gen_Cancer_Risk_Overview/risk/TIC14 [Accessed 12 September 2021].

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