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The PDE6H gene is a genetic variant that has been associated with several disorders and diseases characterized by brain and vision abnormalities. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of genetic disorders.

This gene is responsible for encoding a protein called phosphodiesterase 6H, which plays a crucial role in the photoreceptor cells of the retina. Mutations in the PDE6H gene can cause changes in the protein’s structure or function, leading to the development of various conditions.

Scientific articles and references related to the PDE6H gene can be found in PubMed, a database of biomedical literature. Additional information and resources for testing and genetic counseling can be obtained from the National Institutes of Health (NIH) and other health-related organizations.

Achromatopsia, a condition characterized by the inability to perceive colors, is one of the disorders associated with mutations in the PDE6H gene. Other conditions and disorders triggered by changes in this gene include retinitis pigmentosa, cone-rod dystrophy, and other retinal degenerative diseases.

The PDE6H gene is part of a larger family of genes known as phosphodiesterases, which are involved in a variety of cellular reactions. Understanding the function and role of this gene is crucial in the development of diagnostic tests and potential treatments for these disorders.

In summary, the PDE6H gene is a genetic variant that can cause various disorders and conditions related to brain and vision abnormalities. It is listed in the OMIM database and has been the subject of scientific research and articles. Testing, counseling, and other resources are available for individuals and families affected by mutations in this gene.

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Genetic changes in the PDE6H gene can cause various health conditions, particularly those related to the photoreceptor cells in the eye. The PDE6H gene provides instructions for making a protein called phosphodiesterase 6H, which is involved in the normal function of the retina.

One health condition related to genetic changes in the PDE6H gene is called achromatopsia. Achromatopsia is a disorder that affects the color vision and visual acuity of individuals. It is characterized by the inability to discern colors and extreme sensitivity to light.

For individuals with suspected genetic changes in the PDE6H gene, genetic testing can be performed to confirm the diagnosis. Genetic testing can identify specific changes or variants in the gene, which can help determine the underlying cause of the condition.

Additional resources for information on genetic changes related to the PDE6H gene can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide access to scientific articles, references, and other information on genetic disorders.

The OMIM database, in particular, allows you to search for specific genes and provides detailed information on associated health conditions. It lists the names of genes related to specific conditions, including the PDE6H gene for achromatopsia.

In addition to genetic testing, individuals with suspected genetic changes in the PDE6H gene may also benefit from consultation with a genetic counselor. A genetic counselor can provide guidance on available testing options, potential implications of genetic changes, and support in making informed decisions.

Furthermore, individuals with achromatopsia or other conditions related to genetic changes in the PDE6H gene may find it helpful to connect with support groups or registries that focus on these specific disorders. These resources can provide valuable information, support, and access to research updates and clinical trials.

See also  Ellis-van Creveld syndrome

In summary, genetic changes in the PDE6H gene can lead to various health conditions, with achromatopsia being one of the primary disorders. Genetic testing, scientific databases, and additional resources can provide valuable information and support for individuals and families affected by genetic changes in this gene.

Achromatopsia

Achromatopsia is a genetic disorder that affects the photoreceptor cells in the retina of the eye. Individuals with this condition have difficulty seeing colors and often experience severe visual impairment.

The PDE6H gene is one of the genes associated with achromatopsia. This gene encodes the enzyme phosphodiesterase 6H, which plays a crucial role in the visual process. Mutations in the PDE6H gene can lead to changes in the enzyme’s function, impairing the normal signaling pathway in the photoreceptor cells and causing achromatopsia.

Achromatopsia is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide information on the genetic variants associated with achromatopsia and the related symptoms and conditions.

Scientific articles and references on achromatopsia can be found in databases like PubMed and catalogs like the Catalog of Human Genes and Genetic Disorders. These resources provide additional information on the disorder, including the genetic causes, triggers, and reactions in the brain.

Genetic testing for achromatopsia can help confirm a diagnosis and identify the specific gene variant responsible for the condition. This information can be valuable for individuals and their families, as it can guide their healthcare and provide resources for managing the disorder.

Overall, achromatopsia is a rare genetic disorder that causes severe visual impairment and difficulty seeing colors. The PDE6H gene is one of the genes associated with this condition, and genetic testing can provide important information for individuals and their healthcare providers.

Other Names for This Gene

The PDE6H gene is also known by the following names:

  • Phosphodiesterase 6H, cGMP-specific, cone, gamma (gene symbol)
  • Achromatopsia 5 (cone monochromacy) (variant)
  • PDE6H-related genetic disorder
  • PDE6H-associated genetic condition

These names are used to refer to the same gene in different resources, databases, and scientific articles.

The PDE6H gene is listed under these names in various databases and genetic catalogs such as:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • Genetic Testing Registry

Additional information and references related to this gene can be found in these resources.

Additional Information Resources

The PDE6H gene is a key player in the functioning of the photoreceptor cells in the retina. Mutations in this gene can cause various disorders and diseases, including achromatopsia. In addition to the primary information sources related to the PDE6H gene, there are other resources that provide valuable information and can be helpful in further exploring this topic.

  • Genetic Databases: There are several genetic databases that provide detailed information on the PDE6H gene and related genetic disorders. These databases include OMIM, which is a comprehensive catalog of human genes and genetic disorders, as well as gene-specific databases such as the PDE6H gene entry in GeneCards.
  • Testing and Diagnosis: For individuals who suspect they may have a genetic variant in the PDE6H gene, genetic testing and diagnosis can be performed. There are specialized genetic testing laboratories that offer tests specifically targeting this gene. A genetic counselor or healthcare professional can provide further information on this testing process.
  • Articles and Publications: Scientific articles and publications often provide in-depth information on various aspects of the PDE6H gene and its role in different conditions. PubMed is a widely-used resource for accessing scientific literature related to genetics and health. Searching for keywords such as “PDE6H gene,” “achromatopsia,” or “photoreceptor diseases” can yield relevant articles in this field.
  • Related Genes and Reactions: The PDE6H gene is part of a network of genes and biological reactions that contribute to the functioning of photoreceptor cells and related processes in the retina. Exploring the interplay between different genes and their interactions can provide a more comprehensive understanding of this genetic pathway.
  • Registry and Support: For individuals and families affected by genetic disorders such as achromatopsia, joining a genetic registry can provide access to additional support and resources. These registries often connect affected individuals and families, allowing them to share information and experiences.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated genes, which provides information about the genetic basis of various diseases and conditions. The GTR lists tests that have been submitted by laboratories and include information on the gene(s) being tested, the conditions the gene(s) are related to, and the method used for testing.

For the PDE6H gene, the GTR lists tests for the following conditions:

  • Achromatopsia: A genetic disorder that affects the cone cells in the retina of the eye, causing color blindness and reduced visual acuity.

Testing for changes in the PDE6H gene can help determine the genetic cause of these conditions. By identifying specific variants or changes in the gene, scientists and healthcare providers can gain a better understanding of the underlying mechanisms and triggers for these diseases.

The GTR provides additional resources and references to scientific articles from PubMed and other databases. These references can be useful for further research and for healthcare professionals looking for more information about the PDE6H gene and related conditions.

By listing the available tests in the GTR, healthcare professionals and individuals seeking genetic testing can access valuable information about the PDE6H gene, its role in photoreceptor function, and how changes in the gene can impact health and genetic conditions.

References and Resources:
1. Genetic Testing Registry – https://www.ncbi.nlm.nih.gov/gtr/
2. PubMed – https://pubmed.ncbi.nlm.nih.gov/

Scientific Articles on PubMed

PubMed is a vast catalog of scientific articles on various topics, including the PDE6H gene and its related disorders. The PDE6H gene is responsible for coding a protein called phosphodiesterase 6H, which is essential for proper function of photoreceptor cells in the retina.

Tests and changes in this gene can lead to genetic diseases such as achromatopsia, a rare disorder that causes color blindness and severe vision impairments. If you are interested in exploring more about this gene and related genetic conditions, PubMed is a great resource.

PubMed provides access to scientific articles from various peer-reviewed journals, offering valuable information on the role of the PDE6H gene in different health conditions and the triggers and reactions associated with genetic changes in this gene. The database also includes references to additional resources and databases that can provide more information on this topic.

When searching for articles on PubMed, it is recommended to use keywords such as “PDE6H gene”, “phosphodiesterase 6H”, “achromatopsia”, and “genetic diseases” to narrow down the results to relevant studies. The articles listed in PubMed often provide detailed information on the genetic variants associated with the PDE6H gene and their impact on the health and vision of affected individuals.

For a comprehensive overview of the PDE6H gene and related disorders, the Online Mendelian Inheritance in Man (OMIM) database can also be a valuable resource. OMIM provides detailed information on the genetic and clinical characteristics of various conditions related to the PDE6H gene, along with references to scientific articles and other resources.

In summary, PubMed is a rich source of scientific articles on the PDE6H gene and its role in genetic diseases such as achromatopsia. By exploring the articles available on PubMed and referring to additional databases and resources, one can gain a deeper understanding of the genetic variants and their impact on health conditions related to the PDE6H gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and disorders. One such gene listed in the catalog is the PDE6H gene. This gene encodes a protein called phosphodiesterase, which is involved in the signaling pathway in the brain.

The catalog provides names and changes in the PDE6H gene that are associated with different disorders. One disorder related to this gene is achromatopsia, a condition characterized by color blindness. Genetic testing for mutations in the PDE6H gene can help diagnose this disorder.

See also  Genetic Conditions J

In addition to the PDE6H gene, the Catalog of Genes and Diseases from OMIM includes information about other genes involved in various brain-related disorders. These genes play a role in conditions such as Alzheimer’s disease, Parkinson’s disease, and epilepsy.

The catalog also provides references to scientific articles and databases, such as PubMed, where researchers can find more information about the genetic variants and their effects. This information is crucial for understanding the cause of these diseases and developing tests and treatments.

Healthcare professionals and researchers can use the Catalog of Genes and Diseases from OMIM as a valuable resource to explore the genetic basis of various conditions and find potential triggers and causes. The catalog can aid in identifying genetic changes that contribute to the development of diseases and guide further research.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes and disorders, including the PDE6H gene and its association with achromatopsia. It serves as a valuable resource for healthcare professionals, researchers, and individuals looking for information on genetic-related conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for scientists and healthcare professionals seeking information on specific genes and genetic variants related to diseases and health conditions. These databases provide a catalog of genes and their variants, along with additional information such as names, reactions, triggers, and associated changes in health.

One of the widely used gene databases is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the functions and implications of genes and their variants, along with links to scientific articles and resources for further reading.

The PubMed database is another important resource for scientific articles related to genes and genetic variations. It includes a vast collection of research papers on different aspects of genes, their functions, and their roles in various diseases and conditions. Researchers can find valuable insights and updates on the PDE6H gene and its associated disorders through PubMed.

In addition to OMIM and PubMed, there are other gene and variant databases that specialize in specific genes or diseases. These databases provide curated information and resources for genetic testing, diagnosis, and understanding of various genetic conditions. For example, the Photoreceptor Gene Mutation Database focuses specifically on genes related to disorders of the photoreceptor cells in the retina.

Genetic testing and variant databases play a crucial role in identifying and characterizing genetic variants associated with diseases. These databases enable researchers and healthcare professionals to compare genetic variants, understand their impact on health, and develop targeted therapies. They also help in identifying potential triggers, reactions, and changes in health caused by specific genetic variations.

Overall, gene and variant databases serve as valuable tools for scientists, clinicians, and patients to access and contribute to the wealth of knowledge surrounding genes and their variants. They provide essential information that aids in understanding and managing genetic conditions such as achromatopsia, a disorder caused by mutations in the PDE6H gene. Through these databases, researchers and healthcare professionals can stay up-to-date with the latest advancements in genetics and make informed decisions regarding diagnosis and treatment options.

References

  • Achromatopsia:
    • Genetic Testing:. (2021). Retrieved from https://ghr.nlm.nih.gov/condition/achromatopsia#resources
    • OMIM. (2021). Retrieved from https://omim.org/entry/613093
    • Gene Tests. (2016). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1418/
  • Other related diseases:
    • Scientific Registry of Pathogenic Variation (2019). Retrieved from https://staging.clinicalgenome.org/brca1.html
    • Photoreceptor-related Reactions. (2020). Retrieved from https://www.pnas.org/content/117/49/31489
    • Disorder-causing variant in PDE6H gene. (2018). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295466/
    • Names and Gene Changes. (2021). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757396/
  • Resources for genetic information:
    • Databases for additional information on genes. (2021). Retrieved from https://www.ncbi.nlm.nih.gov/gene
    • PubMed. (2021). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
    • Genetic and Rare Diseases Information Center. (2021). Retrieved from https://rarediseases.info.nih.gov/
    • Catalog of Genes and Genetic Testing Conditions. (2021). Retrieved from https://clinicalgenome.org/curation-activities/gene-disease-validity
    • Health Genetic Testing. (2019). Retrieved from https://www.nhs.uk/conditions/genetic-conditions/gene-testing-and-genetic-counselling/

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