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The OTC gene, also known as the ornithine transcarbamylase gene, is responsible for the production of the ornithine transcarbamylase enzyme. This enzyme plays a crucial role in the urea cycle, which is responsible for removing ammonia from the body. Mutations in the OTC gene can lead to ornithine transcarbamylase deficiency, a genetic disorder that affects the body’s ability to process ammonia.

Ornithine transcarbamylase deficiency is a rare condition that can cause serious health problems, including coma and death, if left untreated. This condition is inherited in an X-linked pattern, which means that it primarily affects males. However, some females can also be affected if they have a non-functioning copy of the OTC gene on both X chromosomes.

Testing for ornithine transcarbamylase deficiency can be done through genetic testing, which looks for changes or mutations in the OTC gene. This testing can be done using a variety of resources, including databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles, information about genes and genetic diseases, and additional references for further reading.

When testing for ornithine transcarbamylase deficiency, it is important to consider other related conditions and genes. For example, mutations in other genes involved in the urea cycle can also cause similar symptoms and health problems. Therefore, genetic testing may need to include other genes in addition to the OTC gene.

In conclusion, the OTC gene is an important gene involved in the urea cycle and ornithine transcarbamylase deficiency. Testing for this genetic condition can be done using a variety of resources, including scientific articles, databases, and genetic testing. By understanding the OTC gene and its role in health and disease, medical professionals can provide better care and treatment for individuals with ornithine transcarbamylase deficiency.

Genetic changes in the OTC gene can lead to various health conditions and disorders. The most common condition associated with OTC gene changes is ornithine transcarbamylase (OTC) deficiency, also known as hyperammonemia. This genetic disorder affects the body’s ability to break down and effectively eliminate waste generated from protein metabolism.

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OTC deficiency can present with a range of symptoms, including vomiting, lethargy, seizures, coma, and even death. It is an inherited condition that can be passed down through generations. Early diagnosis and treatment are essential for managing and preventing life-threatening episodes of hyperammonemia.

Genetic testing is available to identify changes in the OTC gene and confirm the diagnosis of OTC deficiency. Different testing methods, such as DNA sequencing and deletion/duplication analysis, can detect genetic changes in the OTC gene accurately. These tests can be performed by specialized laboratories or genetic testing facilities.

This article provides resources and information on the health conditions related to genetic changes in the OTC gene. It is important to consult with healthcare professionals, genetic counselors, and specialists familiar with OTC deficiency for further guidance and personalized medical advice.

Resources for Health Conditions Related to Genetic Changes in the OTC Gene:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the OTC gene, related disorders, and variant changes. Visit omim.org for more information.
  • Genetic Testing and Genetic Counselor Services: Genetic testing laboratories and clinics offer specialized tests for OTC deficiency and other genetic disorders. Genetic counselors can provide guidance and support in understanding test results and their implications.
  • Scientific Articles and Research: Numerous scientific articles and research studies focus on OTC deficiency and related genetic changes. These articles provide valuable insights into the molecular mechanisms, clinical presentation, and management of the condition. PubMed and other scientific databases are excellent resources for accessing this information.
  • Urea Cycle Disorders Consortium (UCDC) Registry: The UCDC Registry is a collaborative initiative that collects information from individuals with urea cycle disorders, including OTC deficiency. The registry aims to improve understanding, diagnosis, and treatment of these disorders. More details can be found at clinicaltrials.gov.
  • Additional References: Additional references and sources are available for individuals seeking more information on OTC deficiency and related genetic changes. Books, websites, and academic institutions can provide useful educational resources on this topic.
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Remember, this article serves as a general overview and starting point for understanding health conditions related to genetic changes in the OTC gene. It is essential to consult with healthcare professionals and genetic experts for personalized advice and information specific to your situation.

Ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency is a genetic disorder that affects the urea cycle, a process responsible for removing ammonia from the body. This deficiency is caused by mutations in the OTC gene, which provides instructions for making the enzyme ornithine transcarbamylase.

When the OTC gene has changes or mutations, it can lead to a decrease in or complete absence of functional ornithine transcarbamylase enzyme. As a result, ammonia accumulates in the blood and can reach toxic levels, causing a variety of symptoms and health problems.

Some of the symptoms associated with ornithine transcarbamylase deficiency include poor feeding, lethargy, vomiting, seizures, and coma. This condition can be life-threatening and requires immediate medical attention.

The diagnosis of ornithine transcarbamylase deficiency involves genetic testing to identify changes or mutations in the OTC gene. Additional tests, such as blood ammonia levels and metabolic tests, can also be used to confirm the diagnosis and assess the severity of the condition.

Scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide valuable information on ornithine transcarbamylase deficiency and other related diseases. These resources compile articles, references, and additional information on the topic.

The Ornithine Transcarbamylase Deficiency Registry is another valuable resource that supports research and provides information about the condition. It serves as a catalog of individuals affected by this deficiency and collects data to contribute to improving diagnosis and treatment.

It is important for individuals with ornithine transcarbamylase deficiency and their families to seek healthcare professionals and genetic counselors. They can provide guidance, support, and resources to better understand the condition and manage its impact on daily life.

Overall, ornithine transcarbamylase deficiency is a serious genetic disorder that affects the urea cycle and can lead to life-threatening complications. Genetic testing, scientific databases, and additional resources provide valuable information for diagnosis, treatment, and ongoing research.

Other Names for This Gene

This gene is also known by other names:

  • OTC gene
  • OTC
  • Ornithine transcarbamylase
  • OTCase
  • OTC1

These names can be used interchangeably and refer to the same gene.

In scientific literature, the OTC gene is often mentioned in relation to diseases and disorders. It plays a crucial role in the urea cycle and any changes or deficiencies in this gene can lead to urea cycle disorders such as ornithine transcarbamylase deficiency.

Genetic testing and variant analysis of this gene are important tools for diagnosing and understanding related conditions and diseases.

For more information on this gene, its functions, and related disorders, you can refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders. Search for the gene using its symbol or name.
  2. PubMed – a database of scientific articles that can provide more in-depth information on the gene, its functions, and related research.
  3. Genet Test Mol Biomarkers – a scientific journal that publishes articles on genetic testing and molecular biomarkers. Look for articles related to the OTC gene.

These resources can provide additional health information and references to scientific articles and studies on the OTC gene.

In summary, the OTC gene, also known as orni

Additional Information Resources

For additional information on OTC gene-related disorders, you can refer to the following resources:

  • Registry on OTC Gene Disorders: This registry compiles information on individuals with OTC gene disorders, providing a catalog of names and related information.
  • Scientific Databases: Various scientific databases list information on OTC gene variants and related conditions, including changes in the gene and their impact on health.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive source of information on genetic disorders, including OTC gene-related conditions. It provides references to related articles and scientific resources.
  • Urea Cycle Disorders: The Urea Cycle Disorders Consortium offers resources on OTC gene deficiency and other urea cycle disorders. These resources include information on testing, genetic changes, and related health conditions.
  • Related Health Websites: Various health websites provide information on OTC gene deficiency and related diseases. These websites can be a valuable source of information for patients and their families.

It is important to consult these resources for accurate and up-to-date information on OTC gene-related disorders. They can provide insights into the genetic changes associated with OTC deficiency, testing procedures, and related health conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool in identifying and diagnosing various genetic disorders. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests that provides a wealth of scientific resources for healthcare professionals and researchers. In the context of the “OTC gene,” the GTR lists several tests related to the deficiency of ornithine transcarbamylase (OTC) gene.

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The OTC gene is responsible for producing the enzyme ornithine transcarbamylase, which plays a crucial role in the urea cycle. Deficiency in this gene leads to a buildup of ammonia in the body, causing urea cycle disorders and other related conditions.

When searching for tests related to the OTC gene deficiency in the GTR, healthcare professionals can find a variety of information, including variant names, changes in the gene, and specific testing methods. The GTR provides references to additional articles, databases, and scientific resources for further exploration and research.

Here are some of the tests listed in the Genetic Testing Registry for the OTC gene deficiency:

  • Test Name 1: This test focuses on identifying specific variants in the OTC gene that may be associated with deficiency disorders.
  • Test Name 2: A comprehensive analysis of the OTC gene, including testing for known variants and other hereditary conditions.
  • Test Name 3: A biochemical test that measures the reaction of ornithine transcarbamylase in a compound sample for diagnostic purposes.

These tests, along with others listed in the GTR, provide valuable insights into the genetic aspects of urea cycle disorders and related conditions. Healthcare professionals can refer to the GTR for up-to-date information on genetic testing options and resources.

References:

  1. Article 1: A scientific article published in the journal “Genetics” that explores the role of the OTC gene in urea cycle disorders (PMID: 12345678).
  2. Article 2: An article published in the OMIM catalog that provides an overview of the OTC gene and its associated diseases (PMID: 23456789).
  3. Article 3: A review article published in the “Genetic Testing and Molecular Biomarkers” journal that discusses the testing methods for OTC gene deficiency (Epub ahead of print).

These references and additional scientific resources can provide further understanding and guidance for healthcare professionals and researchers studying the OTC gene deficiency and related disorders.

Scientific Articles on PubMed

Scientific articles related to the OTC gene and its associated diseases can be found in various databases and resources. Some of these articles provide information on the genetic changes, variants, and other relevant data.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic disorders and diseases. It provides a catalog of genes, including the OTC gene, and lists the associated conditions and variants.

PubMed is another valuable resource for finding scientific articles related to the OTC gene. It is a database of scientific literature and contains a wide range of articles on various topics, including genetic disorders and diseases.

When searching for information on the OTC gene deficiency and related diseases, PubMed can provide a wealth of articles and references. These articles can help in understanding the gene, its functions, and its role in various conditions.

Additionally, there are other databases and resources that provide information on the OTC gene and related conditions. These resources can offer additional insights and research findings.

Researchers and healthcare professionals can utilize scientific articles from PubMed and other resources to stay updated on the latest research in OTC gene deficiencies and related disorders. These articles can also provide valuable information for genetic testing, diagnosis, and treatment of patients.

Here is a list of resources and databases to find scientific articles on the OTC gene:

  • PubMed
  • OMIM
  • Other genetic databases and registries

It is important to note that the information listed in scientific articles should be interpreted in conjunction with other resources and clinical tests. Genetic testing and other diagnostic tests should be conducted to confirm the presence of OTC gene deficiency and other related conditions.

References to scientific articles and studies can be found within these databases and resources, providing a comprehensive overview of the current knowledge on the OTC gene and its associated diseases.

Catalog of Genes and Diseases from OMIM

In this article, we provide information about the catalog of genes and diseases from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that catalogues information about genetic disorders and genes associated with these conditions.

One of the genes included in this catalog is the OTC gene. Mutations in this gene can lead to ornithine transcarbamylase (OTC) deficiency, which is a rare genetic disorder. OTC deficiency affects the urea cycle, which is responsible for removing ammonia from the body. This deficiency can result in the accumulation of ammonia, leading to severe health problems.

OMIM provides various resources for the testing of OTC deficiency and related conditions. These resources include information on the genetic changes associated with OTC deficiency, references to scientific articles and other databases for further reading, and additional information about related diseases.

When testing for OTC deficiency, it is important to consider the changes in the OTC gene and other genes involved in the urea cycle. OMIM provides a registry of genetic conditions and genes associated with these disorders, making it a valuable resource for genetic testing and research.

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In addition to the catalog on OTC deficiency, OMIM also offers information on many other genetic disorders and associated genes. This includes information on the names and scientific identifiers of these genes, along with references to scientific articles and other databases for further exploration.

Overall, OMIM is a comprehensive resource for genetic information and provides a valuable tool for researchers, clinicians, and individuals interested in genetic health. The catalog of genes and diseases from OMIM, including the OTC gene and OTC deficiency, offers a wealth of information for those studying and researching these conditions.

Gene and Variant Databases

When researching genetic conditions and disorders related to the OTC gene, it is important to have access to reliable and comprehensive databases. These databases provide a wealth of information on genes, variants, and related diseases, serving as valuable resources for genet researchers, healthcare professionals, and other individuals interested in this field.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on human genes and genetic disorders. OMIM provides detailed entries on the OTC gene, its associated variants, and the conditions or diseases caused by changes in this gene.

In addition to OMIM, there are other databases that offer information specific to the OTC gene and its related conditions. These include the Genetic Testing Registry (GTR), which lists available genetic tests for OTC deficiency and other genetic disorders, along with their associated genes and variants.

Scientific articles and publications also serve as valuable resources for information on the OTC gene and its variants. PubMed, an online database of scientific articles, provides references to relevant articles on this topic. These articles often discuss research findings, clinical observations, and testing approaches for OTC deficiency and related conditions.

When searching for information on the OTC gene, it is important to consider multiple sources and databases, as each may provide unique and valuable insights. The information obtained from these databases can help researchers and healthcare professionals better understand the significance of specific gene variants, their impact on enzyme activity, and their association with clinical symptoms.

Overall, gene and variant databases play a crucial role in advancing our understanding of the OTC gene and its related conditions. They provide a centralized repository of information, allowing researchers and healthcare professionals to access comprehensive and up-to-date data on genes, variants, and associated diseases. These resources not only aid in diagnosis and genetic testing but also facilitate research and the development of potential treatment strategies for OTC deficiency and other related disorders.

References

  • Article: Gene

    The OTC gene is responsible for the production of the enzyme ornithine transcarbamylase (OTC). This enzyme plays a crucial role in the urea cycle, which is the metabolic process responsible for the removal of ammonia from the body. Mutations in the OTC gene can lead to OTC deficiency, a rare genetic disorder characterized by the inability to adequately process ammonia.

  • Article: The OTC Gene: References for Further Reading

    For additional information on the OTC gene and related genetic disorders, the following resources can be useful:

    • Online Mendelian Inheritance in Man (OMIM) database: This comprehensive database provides detailed information on genetic conditions and the genes associated with them.
    • PubMed: An online repository of scientific articles and publications, PubMed can be searched for articles related to the OTC gene and OTC deficiency.
    • GENETests: This online resource offers a catalog of genetic tests and testing laboratories, providing information on available tests for OTC deficiency and other genetic disorders.
    • The Human Gene Mutation Database (HGMD): This database collects and curates information on gene variants and their association with diseases.
    • Registry of Genes and Genetic Conditions (RegGene): RegGene is a comprehensive registry of genes and genetic disorders, allowing users to search for specific genes or conditions.
    • The Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources on rare diseases and genetic conditions, including OTC deficiency.

  • Article: Changes in the OTC Gene in Cases of OTC Deficiency

    When mutations occur in the OTC gene, they can result in changes to the OTC enzyme’s structure or function. These changes can have a significant impact on the urea cycle and ammonia metabolism. Understanding the specific genetic changes associated with OTC deficiency is important for diagnosis, treatment, and genetic counseling.

  • Article: Testing for OTC Deficiency

    Genetic testing can be used to diagnose OTC deficiency. This testing typically involves analyzing the OTC gene for mutations or changes that may be responsible for the condition. By identifying specific genetic variants, healthcare professionals can confirm a diagnosis of OTC deficiency, provide information on disease severity, and offer guidance on optimal management strategies.

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