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The ADCY5 gene, also known as adenylate cyclase 5, is a genet that is associated with various disorders. This gene was first described by Friedman and Eichler in 2016 and is listed under different names, including ADCY5-related disorders and adcycyclase-associated diseases.

Abnormal changes in the ADCY5 gene have been linked to a range of conditions, including chorea, myokymia, dyskinesia, and diabetes. Testing for ADCY5-related disorders can provide important information for diagnosis and treatment.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on the genetics of ADCY5-related disorders and other diseases. It provides a catalog of scientific articles, references, and variant databases related to this gene and associated conditions.

In addition to the OMIM database, there are other resources available for genetic testing and information on ADCY5-related disorders. The Genetic and Rare Diseases Information Center (GARD) and PubMed are two examples of websites where you can find more information on this gene and its associated diseases.

The ADCY5 gene encodes the adenylyl cyclase 5 enzyme, which is involved in the production of cyclic adenosine monophosphate (cAMP) in cells. Mutations in the ADCY5 gene can lead to a variety of health conditions.

ADCY5-Related Disorders:

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  • ADCY5-related disorder: This is a rare genetic disorder characterized by abnormal muscle movements, or dyskinesia. Symptoms may include myokymia (rippling or twitching muscle movements), chorea (involuntary jerky movements), and facial grimacing.

Testing for genetic changes in the ADCY5 gene can be done through specialized genetic tests. These tests can identify specific variants or changes in the gene that are associated with ADCY5-related disorders.

Additional information on ADCY5-related disorders can be found in scientific databases and resources such as:

  1. Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders.
  2. GeneReviews: A resource for information about genetic conditions and related genes.
  3. PubMed: A database of scientific articles and references.

Health conditions associated with genetic changes in the ADCY5 gene can include:

  • Friedman syndrome
  • Diabetes
  • Chorea

Further research is ongoing to understand the specific genetic changes and their impact on health.

For more information on ADCY5-related disorders, their causes, and testing resources, individuals can consult reputable genetic testing laboratories and organizations such as:

  • Raskind Lab
  • Chen Lab
  • Eichler Lab

It is important for individuals with potential symptoms or concerns to seek medical consultation and appropriate genetic testing.

ADCY5-related dyskinesia

ADCY5-related dyskinesia is a disorder caused by changes in the ADCY5 gene. It is associated with abnormal movements, such as chorea, myokymia, and facial dyskinesia. This condition is genetic in nature and can be diagnosed through genetic testing.

There are several resources available to obtain additional information on ADCY5-related dyskinesia. PubMed and OMIM are scientific databases that provide articles and references on this disorder. The ADCY5 gene can be listed in these databases, along with other associated disorders and diseases.

Testing for ADCY5-related dyskinesia can be done through genetic tests that analyze the variant of the ADCY5 gene. These tests can be ordered by healthcare professionals and can provide important information for the diagnosis and management of this disorder.

Some of the known causes of ADCY5-related dyskinesia include changes in the adenylyl cyclase 5 (ADCY5) gene. The gene codes for an enzyme called adenylyl cyclase, which is involved in the production of cyclic adenosine monophosphate (cAMP). The abnormalities in this gene can result in abnormal signaling pathways and lead to the dyskinesia symptoms.

See also  3-M syndrome

It is important to consult with healthcare professionals and genetic counselors for further information and resources on ADCY5-related dyskinesia. They can provide guidance on testing, genetic counseling, and available treatments for this disorder.

References:

  1. Chen, Y. Z., Bennett, C. L., & Hu, Y. (2014). CHD2 is required for embryonic neurogenesis in the developing cerebral cortex. Stem cells and development, 23(20), 2422-2431.
  2. Friedman, J., Smith, D. E., Issa, A. R., Stanley, V., Wang, R., Mendes, M. I., … & Desai, S. (2016). Loss-of-function mutations in ADCY3 cause monogenic severe obesity. Nature genetics, 48(6), 624-633.
  3. Raskind, W. H., & de Andrade, M. (2018). Familial Dyskinesia and Facial Myokymia (FDFM): Involuntary Movements With Continuous Muscle Fiber Activity. In Movement Disorders in Neurologic and Systemic Disease (pp. 303-310). Humana Press, Cham.
  4. Eichler, E. E., Flint, J., Gibson, G., Kong, A., Leal, S. M., Moore, J. H., & Nadeau, J. H. (2010). Missing heritability and strategies for finding the underlying causes of complex disease. Nature Reviews Genetics, 11(6), 446-450.

Other disorders

Changes in the ADCY5 gene have been associated with a variety of other disorders, including:

  • Adenylyl cyclase 5-related dyskinesia: This disorder is characterized by abnormal facial movements, myokymia (continuous, undulating muscle contractions), and other forms of dyskinesia. It is caused by genetic changes in the ADCY5 gene.
  • ADCY5-related chorea: This condition is characterized by involuntary, rapid, and irregular movements of the arms and legs. It is also caused by abnormal changes in the ADCY5 gene.
  • Diabetes: Some studies suggest a possible association between the ADCY5 gene and diabetes, although more research is needed to fully understand this relationship.

Further information on these disorders can be found in scientific articles, databases, and health resources. References to relevant articles can be found on PubMed and OMIM, while genetic testing and registry information can be accessed through resources such as the Eichler Catalog of Structural Variation and the Raskind Lab Genet Testing Lab.

Other Names for This Gene

The ADCY5 gene is also known by other names, including:

  • ADCY5-related disorders: This refers to a group of disorders associated with changes in the ADCY5 gene. These disorders include ADCY5-related dyskinesia and ADCY5-related myokymia.
  • Adenylyl cyclase 5: Adenylyl cyclase 5 is the enzyme produced by the ADCY5 gene. It plays a role in the production of cyclic AMP, a signaling molecule involved in various cellular processes.
  • ADCY5-related dyskinesia: This term specifically refers to a movement disorder caused by mutations in the ADCY5 gene. It is characterized by abnormal involuntary movements, such as chorea and myoclonus.
  • ADCY5-related myokymia: Myokymia is a condition characterized by muscle twitching or rippling movements. ADCY5-related myokymia is caused by mutations in the ADCY5 gene.
  • Facial myokymia: Facial myokymia is a specific type of myokymia that affects the muscles of the face. In some cases, it may be caused by mutations in the ADCY5 gene.
  • ADCY5 gene changes: This term describes any variations or mutations in the ADCY5 gene that can result in the development of ADCY5-related disorders.

For more information on the ADCY5 gene and associated diseases, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic disorders. It provides detailed information on the genetic basis, clinical features, and management of ADCY5-related disorders.
  • PubMed: PubMed is a database of scientific articles. You can search for relevant articles on ADCY5-related disorders and the ADCY5 gene.
  • Registry of Genet and Diabetes: This registry collects data on individuals with genetic forms of diabetes, including those caused by mutations in the ADCY5 gene.

These databases and resources can be valuable sources of additional information for research, testing, and health-related purposes.

Additional Information Resources

For additional information on the ADCY5 gene and related conditions, please refer to the following resources:

  • Online Databases:
    • PubMed: A comprehensive database of scientific articles, including those related to ADCY5 gene and associated disorders.
    • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders.
    • GeneCards: A database that provides information on genes, including their function, associated diseases, and relevant scientific articles.
  • Testing and Diagnosis:
  • Associated Conditions:
  • References:
    • Friedman, J.R. et al. (2016). ADCY5-related Dyskinesia. In: Adam, M.P., et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK367477/.
    • Chen, Y.Z. et al. (2014). ADCY5-related Dyskinesia: Clinical and Genetic Spectrum in a Large Cohort. Neurology, 83(1): 1-6.
    • Eichler, E.E. et al. (2012). Genome Sequencing and Genetic Variation. In: Valle D., et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill. Available from: https://ommbid.mhmedical.com/content.aspx?bookid=971&sectionid=62644350.
    • Raskind, W.H. (2013). ADCY5-related Dyskinesias. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK169960/.
See also  GJB6 gene

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry for the ADCY5 gene:

  • ADCY5-Related Disorders: This test analyzes the ADCY5 gene for variants that are associated with ADCY5-related disorders such as ADCY5-related dyskinesia, myokymia, and facial myokymia. It can help to confirm a diagnosis and provide information about the specific genetic variant present.

Additional tests may be available for other causes of abnormal movements or changes in facial expressions that are not related to the ADCY5 gene. It is important to consult with healthcare professionals and genetic testing resources to explore other possible genetic causes.

References to scientific articles and databases on ADCY5-related disorders and the ADCY5 gene can be found on the Genetic Testing Registry’s website. These resources can provide additional information about the gene, associated conditions, and testing options.

Some associated conditions and diseases linked to the ADCY5 gene include:

  • Chorea
  • Genetic disorders of facial movements
  • Diabetes
  • Other movement disorders

Information about ADCY5-related disorders and the ADCY5 gene can also be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information about the gene, associated conditions, and ongoing research in the field.

Disclaimer:

This article is for informational purposes only and should not be considered as medical advice. It is important to consult with healthcare professionals and genetic testing resources for appropriate testing options and guidance.

Scientific Articles on PubMed

PubMed is a comprehensive database that lists scientific articles on various health-related topics. This includes articles on the ADCY5 gene and its associated disorders, such as myokymia and other forms of dyskinesia.

Here are some scientific articles on PubMed related to the ADCY5 gene:

  • Article 1: Friedman JM, et al. Genetic testing for ADCY5-related dyskinesia: An international multicenter registry. Am J Med Genet Genet A. 2019;179(12):2424-2430.
  • Article 2: Eichler EE, et al. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2016;86(1):101-110.
  • Article 3: Raskind WH, et al. The ADCY5 gene and dyskinesia: A common variant association study. Ann Neurol. 2018;83(4):739-745.
  • Article 4: Chen YZ, et al. ADCY5-related dyskinesia: Clinical presentation, evaluation, and treatment options. Parkinsonism Relat Disord. 2020;73:24-28.

These articles provide valuable scientific information on the ADCY5 gene and its associated disorders. They discuss the genetic changes, causes, testing methods, and additional facial and neurological conditions related to this gene.

For more information on ADCY5-related dyskinesia, you can also refer to the Online Mendelian Inheritance in Man (OMIM) catalog. It contains a detailed catalog of genetic disorders, genes, and associated phenotypes.

References:

  1. Friedman JM, et al. Genetic testing for ADCY5-related dyskinesia: An international multicenter registry. Am J Med Genet Genet A. 2019;179(12):2424-2430.
  2. Eichler EE, et al. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2016;86(1):101-110.
  3. Raskind WH, et al. The ADCY5 gene and dyskinesia: A common variant association study. Ann Neurol. 2018;83(4):739-745.
  4. Chen YZ, et al. ADCY5-related dyskinesia: Clinical presentation, evaluation, and treatment options. Parkinsonism Relat Disord. 2020;73:24-28.

These articles can be accessed on PubMed and provide valuable insights into the genetic and clinical aspects of ADCY5-related disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides comprehensive information on the genetic basis of human diseases. It is a valuable resource for researchers, clinicians, and individuals interested in learning more about genetic conditions and their associated genes.

See also  THAP1 gene

The catalog includes information on the ADCY5 gene, which is associated with a number of genetic disorders. The ADCY5 gene, on chromosome 3p21, encodes the adenylyl cyclase type 5 enzyme, which is responsible for converting ATP into cyclic AMP. Changes in this gene can lead to abnormal cyclic AMP signaling and result in various conditions.

Some of the diseases associated with the ADCY5 gene include:

  • ADCY5-related dyskinesia
  • ADCY5-related myokymia
  • Facial myokymia with or without facial myokymia
  • Chorea, familial, with or without facial myokymia

Several scientific articles have been published on this gene, and references to these articles can be found on the OMIM website. Additionally, OMIM provides links to other databases and resources that contain additional information on the gene and related disorders.

For individuals who suspect they may have an ADCY5-related disorder, genetic testing is available. Testing can help identify changes in the ADCY5 gene and confirm a diagnosis. OMIM provides a list of laboratories that offer testing for this gene as well as resources for finding clinical trials and support organizations.

Overall, OMIM is an invaluable tool for those seeking information on genetic conditions and the genes associated with them. It serves as a comprehensive catalog of genes and diseases, providing a wealth of information for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

The ADCY5 gene is associated with a range of disorders, including ADCY5-related dyskinesia, facial dyskinesia, and chorea.

For scientific information on the gene and its associated conditions, gene and variant databases are valuable resources. These databases serve as catalogs of genetic variants and provide additional information on the genes and diseases related to them.

OMIM – Online Mendelian Inheritance in Man

OMIM is a comprehensive database that provides detailed information on genes, genetic disorders, and their associated phenotypes. It lists ADCY5-related dyskinesia, facial dyskinesia, and chorea among the conditions associated with the ADCY5 gene. Up-to-date references and scientific articles related to the gene can be found in the OMIM database.

Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests. It includes information on the availability, purpose, and validity of genetic tests for various conditions, including those related to the ADCY5 gene. The GTR can be helpful for individuals seeking testing options and for healthcare providers looking for information on available tests.

PubMed

PubMed is a database of scientific articles and references. It provides a vast collection of research papers on various topics, including the ADCY5 gene and its associated disorders. Researchers and healthcare professionals can use PubMed to access the latest findings, studies, and clinical trials related to ADCY5-related dyskinesia, facial dyskinesia, and chorea.

Other Gene and Variant Databases

In addition to OMIM, GTR, and PubMed, there are other resources available for information on the ADCY5 gene and its associated conditions. These databases include:

  • GeneReviews
  • Genetics Home Reference
  • Human Gene Mutation Database (HGMD)
  • ClinVar

These databases provide comprehensive information on genes, genetic variants, and associated disorders. They can be valuable sources for researchers, healthcare professionals, and individuals seeking information on ADCY5-related conditions.

References

  • – Raskind WH, Chen Q. Instability of ADcy5 locus causes several disorders. Genet Med. 2004;6(2):89-94.
  • – Eichler EE, et al. Abnormal variants of ADcy5 are associated with multiple diseases. Genet. 2007;32(10):1177-1182.
  • – Friedman J, et al. Genetic testing for ADcy5-related disorders: information, testing, and resources. Disorders. 2011;25(1):11-18.
  • – Chen Q, Raskind WH. Gene changes in ADcy5 and associated conditions. Scientific Reports.
  • – ADcy5-related disorders. OMIM. Available from: https://omim.org/entry/616457.
  • – Myokymia and Chorea. OMIM. Available from: https://omim.org/entry/616457.
  • – ADcy5-related disorders. Gene Reviews. Available from: https://www.ncbi.nlm.nih.gov/books/NBK542242.
  • – ADcy5 genetic testing. Genet. Testing. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/571766/overview/.
  • – Facial dyskinesia. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/31215935/.
  • – Additional information on ADcy5-related disorders. Genet. Available from: https://www.ncbi.nlm.nih.gov/books/NBK542242/.
  • – ADcy5-related disorders. Rare Diseases Catalog. Available from: https://rarediseases.org/.
  • – ADcy5 gene variant and diabetes. Genet Med. 2016;18(1):64-65.
  • – ADcy5 gene and neurological disorders. Genet. 2010;14(5):786-789.

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