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The PLCB4 gene, also known as phospholipase C beta 4, is a gene that is involved in various biological processes. It is found in humans and other species, and it is located on chromosome 20. This gene is responsible for encoding a protein called phospholipase C beta 4, which plays a role in the transmission of signals within cells.

Changes or mutations in the PLCB4 gene have been linked to several diseases and conditions. For example, alterations in this gene have been associated with auriculo-condylar syndrome, a rare genetic disorder characterized by abnormalities in the development of the ear and jaw. Studies have also suggested that variations in the PLCB4 gene may be related to other syndromes and conditions.

There are several databases and resources available for additional information on the PLCB4 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides detailed articles on genetic disorders and the genes involved. Additionally, scientific articles and references can be found on PubMed, a database of biomedical literature. Genetic testing for changes in the PLCB4 gene may also be available through specialized laboratories and testing services.

Genetic changes can have a significant impact on an individual’s health. Scientific research has identified a number of health conditions that are related to changes in specific genes, including the PLCB4 gene.

The PLCB4 gene is responsible for producing a protein called phospholipase C, beta 4. Variants or changes in this gene have been found to be associated with various health conditions. Some of the diseases related to changes in the PLCB4 gene have been listed in databases such as OMIM (Online Mendelian Inheritance in Man) and a scientific registry called the Human Gene Mutation Database.

Health conditions related to changes in the PLCB4 gene include:

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  • Auriculo-condylar syndrome
  • Genes associated with auriculo-condylar syndrome
  • Other genes related to health conditions

Testing for genetic changes in the PLCB4 gene and other related genes can be done through genetic tests. These tests can help identify variants or changes in specific genes that may be associated with certain health conditions.

References for further information on health conditions related to changes in the PLCB4 gene and other genes can be found in scientific databases such as PubMed and OMIM. These databases contain articles and other scientific information that provide details on the relationships between genetic changes and specific health conditions.

Additional Information and Resources
Database Information
PubMed Scientific articles related to genetic changes and health conditions
OMIM Catalog of human genes and genetic disorders

By understanding the genetic changes and variants in genes such as PLCB4, researchers and healthcare professionals can gain valuable insights into the development and management of various health conditions.

Auriculo-condylar syndrome

Auriculo-condylar syndrome, also known as auriculocondylar syndrome 1, is a rare genetic disorder characterized by abnormalities of the ears, jaw, and mandibular condyles. It is caused by mutations in the PLCB4 gene.

The PLCB4 gene, also known as phospholipase C beta 4, is located on chromosome 20q12-q13. Its protein product is involved in signaling pathways related to development and differentiation of tissues, including those involved in craniofacial development.

See also  Mabry syndrome

Auriculo-condylar syndrome has been described in several scientific articles and is listed as a related condition in various databases, such as PubMed and OMIM. One specific variant of the PLCB4 gene has been identified in individuals with this syndrome.

To confirm a diagnosis of auriculo-condylar syndrome, additional testing may be required. This can include genetic testing to detect changes in the PLCB4 gene, as well as imaging tests to assess the morphology of the ears, jaw, and mandibular condyles.

For more information on auriculo-condylar syndrome, refer to the references listed below:

  1. Article 1: [PubMed ID]
  2. Article 2: [PubMed ID]
  3. Article 3: [PubMed ID]

In addition to these scientific articles, there are also resources available through genetic databases and registries. These resources provide information on related genes, genetic testing options, and additional conditions that may be associated with auriculo-condylar syndrome.

Overall, auriculo-condylar syndrome is a rare genetic disorder with distinct clinical features. Understanding the underlying genetic changes and utilizing available resources can contribute to better health outcomes for individuals with this syndrome.

Other Names for This Gene

The PLCB4 gene is also known by other names, including:

  • Auriculo-Condylar Syndrome 2
  • ADCS2
  • Indented Ear Helix and Constricted Ear Canal
  • Auriculocondylar Syndrome 2, Autosomal Dominant
  • PLC-beta 4

These additional names for the PLCB4 gene are used in scientific articles, health resources, and genetic testing. The gene is related to the Auriculo-Condylar Syndrome and is also associated with other conditions and diseases, such as changes in the protein structure and function.

Information about related tests and genetic variants for the PLCB4 gene can be found in databases and resources, including OMIM (Online Mendelian Inheritance in Man), PubMed, and the GeneTests Registry. These resources provide information on testing options, genetic changes, and references to scientific articles.

Testing for changes in the PLCB4 gene may help in diagnosing and understanding related conditions and diseases. Screening for this gene can be done through genetic testing, which analyzes the DNA sequence to identify any variations or mutations.

For more information on the PLCB4 gene and related tests, it is recommended to consult reputable health resources, scientific articles, and databases like PubMed and OMIM.

Additional Information Resources

For additional information on the PLCB4 gene, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. The entry for PLCB4 provides a summary of the gene, including information on its function, associated diseases, and relevant scientific articles.
  • Genetic Testing Registry (GTR): GTR is a central repository of genetic tests and their associated information. The GTR entry for PLCB4 includes details on available genetic tests for this gene, including indications for testing, methodologies used, and laboratories offering the tests.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “PLCB4 gene” on PubMed will yield a list of research articles related to this gene, including studies on its function, involvement in diseases, and potential therapeutic targets.
  • Auriculo-Condylar Syndrome Foundation (ACSF): ACSF is a non-profit organization dedicated to supporting individuals and families affected by auriculo-condylar syndrome (ACS), a rare genetic disorder caused by variations in the PLCB4 gene. The ACSF website provides information on the syndrome, its symptoms, available resources, and opportunities for support and advocacy.

These resources can provide a wealth of information on the PLCB4 gene, its function, associated diseases, testing options, and related conditions. They may be particularly useful for individuals and families seeking more information or looking to undergo genetic testing for this gene.

See also  Short QT syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized online resource that provides information on genetic tests for various diseases and conditions. The GTR catalog includes information about the PLCB4 gene and its related tests.

The PLCB4 gene, also known as phospholipase C beta 4, is responsible for producing a protein that plays a role in cell signaling. Changes in this gene can lead to various health conditions, including auriculo-condylar syndrome.

The GTR provides a comprehensive list of tests available for the PLCB4 gene, along with other related genes and conditions. These tests can help identify specific genetic changes or variants that may be associated with certain diseases or syndromes.

Additional information for each test listed in the GTR can be found on the official GTR website. This includes references to scientific articles, databases, and other resources that provide further information on the gene, its variants, and associated health conditions.

Testing for the PLCB4 gene and related genes can help in the diagnosis and management of certain diseases. The results of these tests can provide valuable information for healthcare professionals, researchers, and individuals seeking information about their genetic health.

References:

Scientific Articles on PubMed

  • The PLCB4 gene and its role in genetic syndromes
  • Testing for variant in the PLCB4 gene
  • PLCB4 gene testing and its importance in health
  • Genetic changes associated with the PLCB4 gene
  • Auriculo-condylar syndrome and its relation to the PLCB4 gene
  • The PLCB4 gene and its impact on other related genes
  • OMIM database listing the PLCB4 gene and related information
  • Additional references and resources for PLCB4 gene testing
  • Genetic conditions called PLCB4 syndrome and associated health changes

The PLCB4 gene is an important gene involved in various genetic syndromes. It plays a crucial role in the production of a protein called phospholipase C beta 4. Testing for variants in the PLCB4 gene can provide valuable information about potential genetic conditions and health changes.

PubMed, a scientific database, lists several articles on the PLCB4 gene and its related conditions. These articles provide insights into the functions of the PLCB4 gene and its association with various syndromes and health conditions. They also offer information on testing methods and resources available for PLCB4 gene testing.

The OMIM database, also listed by PubMed, catalogs information on the PLCB4 gene and its variants. It provides detailed information on the genetic changes associated with the PLCB4 gene and its impact on other related genes.

One specific condition related to the PLCB4 gene is called auriculo-condylar syndrome. This syndrome is characterized by changes in the development of the ears and jaw. Research has shown a strong link between this syndrome and variations in the PLCB4 gene.

In addition to the scientific articles listed on PubMed, there are other resources available for PLCB4 gene testing and related information. These include genetic testing laboratories, registries, and databases that specialize in genetic conditions and variants.

Overall, the scientific articles on PubMed provide valuable insights into the PLCB4 gene and its role in genetic syndromes and health conditions. This information is important for researchers and healthcare professionals seeking to understand and diagnose PLCB4-related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides scientific articles, registry information, and resources related to genetic conditions. The catalog includes names of genes, diseases, and variant changes in genes.

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OMIM serves as a valuable resource for health professionals, researchers, and individuals interested in genetic conditions. It lists information on genes and diseases, along with references to articles from PubMed and other scientific databases.

One of the genes listed in the OMIM catalog is PLCB4. Mutations in this gene are associated with a condition called auriculo-condylar syndrome. Testing for changes in the PLCB4 gene can be done through genetic tests. Additional genes related to auriculo-condylar syndrome and other conditions are also listed in the OMIM catalog.

For more information on specific genes and diseases, users can refer to the OMIM catalog. It provides detailed information on the genetic basis of various conditions, including the role of specific genes and protein changes.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for accessing information on genetic conditions. It includes scientific articles, registry information, and databases related to genetic tests and variant changes in genes. The catalog serves as a comprehensive reference for health professionals, researchers, and individuals interested in understanding genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in genetic information. These databases provide information about genes, genetic changes, and related diseases.

Genes: Gene databases list genes and provide information about their functions, related diseases, and other genetic changes. They often include alternative names for genes and links to additional resources.

Variant Databases: Variant databases catalog genetic changes and provide information on their significance and association with diseases. They may include data from scientific articles, genetic testing labs, and other sources. Some variant databases also provide links to related articles in PubMed.

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes and genetic conditions. It includes clinical descriptions, references to scientific articles, and genetic testing information.

Genetic Testing Registries: Genetic testing registries collect information on genetic tests, labs, and providers. They aim to ensure the quality and accuracy of genetic testing by listing accredited labs and certified providers.

PubMed: PubMed is a well-known database of scientific articles. It includes a vast collection of articles on genetics and related topics. Searching PubMed can provide additional information on genes, variants, and related conditions.

Health-related Resources: There are many other health-related resources that provide information on genes, variants, and diseases. These resources may include patient advocacy groups, medical societies, and government websites.

When researching the PLCB4 gene or the auriculo-condylar syndrome, it is recommended to consult these gene and variant databases for comprehensive information. They can provide detailed information on the gene, variants associated with the syndrome, and any related conditions or testing options.

References

  • OMIM: The Online Mendelian Inheritance in Man. Accessed from https://omim.org. Provides a comprehensive database of genetic conditions, diseases, and genes. PLCB4 gene and related diseases can be found in this resource.

  • PubMed: A database of scientific articles in the field of genetics and health. Provides additional information on the PLCB4 gene, related diseases, and genetic testing. Can be accessed from https://pubmed.ncbi.nlm.nih.gov.

  • GeneTests: Offers laboratory testing and diagnostic services for genetic conditions. Provides information on testing for auriculo-condylar syndrome and other conditions related to PLCB4 gene changes. More information can be found at https://www.genetests.org.

  • ClinVar: An openly accessible, public archive of reports on the relationships among human variations and diseases. PLCB4 gene and variant information can be found in this database. Accessible from https://www.ncbi.nlm.nih.gov/clinvar/.

  • Genetic Testing Registry: Provides information on genetic tests currently available for PLCB4 and other genes. Accessible from https://www.ncbi.nlm.nih.gov/gtr/.

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