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The PDE6C gene is a gene that plays a crucial role in the visual system. It is responsible for encoding the enzyme phosphodiesterase 6C, which is involved in the process of converting light into electrical signals in the photoreceptor cells of the retina. Changes or mutations in this gene can lead to various diseases and disorders related to the visual system.

One of the conditions associated with variants in the PDE6C gene is cone-rod dystrophy. This disorder affects the photoreceptor cells in the retina, causing a progressive loss of vision. People with cone-rod dystrophy usually experience difficulties with color vision, central vision, and visual acuity.

Scientific resources such as OMIM, Genet, and PubMed provide complete articles, references, and other information on the PDE6C gene and related disorders. These databases are valuable tools for researchers and healthcare professionals to stay updated on the latest research and advancements in the field.

Genetic testing can be done to identify changes or mutations in the PDE6C gene. This can help in diagnosing cone-rod dystrophy and other conditions related to this gene. The registry of genetic testing listed in resources like OMIM and Genet can provide information on available tests and laboratories that offer testing services.

Understanding the PDE6C gene and its activity is crucial for developing targeted treatments and therapies for cone-rod dystrophy and other related diseases. Researchers are studying the gene’s role and exploring potential triggers and reactions that cause changes in its activity.

In conclusion, the PDE6C gene is an important gene involved in the function and health of the visual system. Variants or mutations in this gene can lead to cone-rod dystrophy and other related conditions. Scientific resources like OMIM, Genet, and PubMed provide valuable articles, references, and information on this gene and its associated disorders. Genetic testing and research in this field play a vital role in understanding and treating these diseases.

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Genetic changes can lead to various health conditions. The PDE6C gene is one of the genes that, when altered, can cause certain disorders.

One of the health conditions related to genetic changes in the PDE6C gene is cone-rod dystrophy. This condition affects the photoreceptor cells in the retina, leading to vision problems. Alterations in the PDE6C gene can impair the activity of the cones and rods, which are responsible for color and low-light vision, respectively.

Testing for genetic changes in the PDE6C gene can be done to confirm a diagnosis of cone-rod dystrophy. This can be done through genetic testing, which analyzes an individual’s DNA for specific changes known to cause the condition. Testing can be done on blood or saliva samples.

Additional health conditions related to genetic changes in other genes may also cause visual disorders. These may include retinitis pigmentosa, macular degeneration, and other forms of inherited retinal diseases.

For more complete and scientific information on the health conditions related to genetic changes in the PDE6C gene, articles from databases such as OMIM, Pubmed, and Genet can be referenced. These resources provide detailed information on the gene, its variants, and the diseases they can cause.

The OMIM database, for example, catalogues genes, genetic disorders, and their associated phenotypes. It provides a wealth of information on genes and the conditions they are linked to. Pubmed, on the other hand, is a comprehensive database of scientific articles, including research on genetic changes and their impact on health.

The Genet database is a registry of genetic testing laboratories and their available tests. It can be a useful resource for finding laboratories that offer PDE6C gene testing, as well as other genetic tests.

It is important to note that genetic changes in the PDE6C gene and other genes can be inherited from parents or occur spontaneously. Understanding the genetic triggers and underlying mechanisms of these conditions is crucial for developing effective treatments and improving the quality of life for people affected by these disorders.

Achromatopsia

Achromatopsia, also known as rod monochromacy, is a rare genetic disorder of visual perception. It is characterized by the complete loss of color vision and severely reduced visual acuity, commonly referred to as “day blindness.” Achromatopsia is caused by mutations in the PDE6C gene, which is responsible for encoding the enzyme phosphodiesterase 6C. This enzyme plays a critical role in the phototransduction cascade of cone photoreceptor cells, which are essential for color vision and visual acuity.

See also  Ochoa syndrome

People with achromatopsia have abnormal cone cell function, leading to a deficiency in the visual pigments required for color discrimination. They have trouble distinguishing between colors and often see the world in black, white, and shades of gray. Additionally, the disorder can cause other visual abnormalities such as nystagmus (involuntary eye movements) and increased sensitivity to light.

Diagnosis of achromatopsia is typically done through clinical testing and genetic analysis. Clinical testing includes comprehensive eye examinations, visual acuity tests, and specialized tests to evaluate color vision. Genetic analysis can identify mutations in the PDE6C gene, confirming the diagnosis.

Further information on achromatopsia, including the types of mutations in the PDE6C gene associated with the disorder, can be found in various genetic databases and resources. These databases provide detailed information on different genes, their variants, and their relationship to various conditions and disorders. They can serve as valuable references for researchers and healthcare professionals interested in studying or diagnosing achromatopsia.

In addition to the PDE6C gene, other genes and genetic changes have been identified as potential causes of achromatopsia. The Online Mendelian Inheritance in Man (OMIM) database and PubMed articles provide more information on these genes and their role in the disorder.

Overall, achromatopsia is a rare and debilitating disorder of visual perception that significantly impacts the quality of life for affected individuals. The identification and understanding of genetic triggers and changes related to this condition are crucial for the development of targeted treatments and interventions to improve the health and well-being of people with achromatopsia.

References:

  • OMIM: Achromatopsia – https://www.omim.org/entry/216900
  • PubMed: Achromatopsia – https://pubmed.ncbi.nlm.nih.gov/?term=achromatopsia
  • GeneTests GeneReviews: Achromatopsia – https://www.ncbi.nlm.nih.gov/books/NBK1418/
  • Registry of Ophthalmic Genetic Diseases: Achromatopsia – http://www.genetests.org/

Cone-rod dystrophy

Cone-rod dystrophy is a genetic disorder that affects the photoreceptor cells in the retina of the eye. It is characterized by progressive loss of vision, starting with the cones (responsible for color vision and central visual acuity) and then affecting the rods (responsible for peripheral vision and night vision).

This condition is caused by genetic changes in several different genes, including the PDE6C gene. PDE6C gene variants have been identified as one of the causes for cone-rod dystrophy.

Cone-rod dystrophy is a rare disorder, and additional information and resources can be found in scientific articles and databases. Some of the resources include PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic testing databases.

Genetic testing can help identify the specific gene variant causing cone-rod dystrophy in an individual. It is important to note that there may be other genes that cause cone-rod dystrophy which are not listed in these resources. Therefore, a complete genetic testing panel may be required to identify all possible genetic causes.

People with cone-rod dystrophy may experience changes in their visual acuity, color vision, and peripheral vision. They may also have difficulty seeing in low light conditions or at night.

The symptoms and severity of cone-rod dystrophy can vary significantly between individuals. Some people may experience mild vision loss, while others may become legally blind. It is important for individuals with cone-rod dystrophy to have regular eye exams and consult with a healthcare provider to monitor their vision and manage the condition appropriately.

In addition to genetic testing, there are other diagnostic tests available to evaluate the activity and function of the photoreceptor cells in the retina. These tests can be helpful in confirming the diagnosis of cone-rod dystrophy.

There is currently no cure for cone-rod dystrophy, but there are treatments available to manage the symptoms and slow down the progression of the disease. These treatments may include visual aids, low vision rehabilitation, and supportive therapies.

For more information on cone-rod dystrophy, including resources, references, and registry information, individuals and healthcare providers can refer to various sources, such as scientific articles, databases, and other online catalogs of related diseases.

Other Names for This Gene

This gene is also known by the following names:

  • PDE6C
  • cone-rod dystrophy 4
  • ACHM5

For more information on this gene, you can refer to the following resources:

  1. The PDE6C Gene Registry of Tests: This registry provides a catalog of tests available for the PDE6C gene, including information on how to access them.
  2. The OMIM (Online Mendelian Inheritance in Man) database: This database contains comprehensive information on the PDE6C gene, including its genetic cause, activities, and associated diseases.
  3. PubMed: Use this scientific database to find complete articles on the PDE6C gene and related health conditions.

These resources can help people access additional information on the PDE6C gene, its variants, and its role in visual disorders such as cone-rod dystrophy and achromatopsia.

See also  GLDC gene

Additional Information Resources

For additional information about the PDE6C gene, genet testing, and related conditions, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): The OMIM database provides a comprehensive catalog of genes and genetic disorders. The entry for PDE6C includes information about the gene, its activity, and the changes (variants) that can cause cone-rod dystrophy, achromatopsia, and other related conditions. OMIM can be accessed at https://omim.org.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles from scientific journals. Searching for “PDE6C gene” or related terms can provide more scientific articles and research on this gene and its role in visual disorders. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
  • Genetic Testing and Gene Databases: Many genetic testing companies offer tests for PDE6C gene variants. These companies often provide additional information about the gene and related conditions on their websites. Some commonly used genetic testing companies include 23andMe, AncestryDNA, and MyHeritage DNA.
  • Other resources: There are other resources available, such as health websites, online support groups for people with PDE6C gene variants or related conditions, and research articles published in scientific journals. These additional resources can provide more information and support to individuals and families affected by PDE6C gene-related conditions.

It is important to consult with a healthcare professional or a genetic counselor for a complete evaluation, testing, and interpretation of genetic tests. They can provide personalized information and guidance on the implications of PDE6C gene variants and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a registry that provides a comprehensive list of genetic tests, including tests for the PDE6C gene. It serves as a centralized source of information about genetic tests and their availability.

The GTR collects data from various sources, including laboratories and researchers, and serves as a valuable resource for healthcare providers, researchers, and individuals seeking genetic testing information. It is maintained by the National Center for Biotechnology Information (NCBI) and is freely accessible to the public.

Genetic testing for the PDE6C gene can be useful in diagnosing cone-rod dystrophy, a genetic disorder that affects the photoreceptor cells in the retina. People with cone-rod dystrophy experience visual changes, such as decreased color vision, photophobia, and progressive loss of central vision. Genetic testing can help confirm the presence of the PDE6C gene variant and provide additional information about the specific genetic changes associated with the disorder.

In addition to cone-rod dystrophy, genetic testing for the PDE6C gene may also be useful in diagnosing other related retinal diseases, such as achromatopsia. Achromatopsia is a disorder characterized by complete color blindness and reduced visual acuity. Testing for the PDE6C gene variant can help identify the underlying genetic cause of the condition.

When considering genetic testing, it is important to consult with a healthcare professional who specializes in genetics to understand the potential implications and limitations of the test. Genetic testing can have emotional, social, and economic impacts, and it is important to weigh the potential benefits and risks before proceeding with testing.

The GTR provides a wealth of information and resources related to genetic testing for the PDE6C gene and other genes associated with retinal diseases. It includes a catalog of listed tests, along with references to scientific articles, databases such as PubMed and OMIM, and other genetic resources. Healthcare providers and individuals can use this information to access complete and up-to-date information on available tests, their activity, and any reported reactions or changes in gene function.

Overall, the GTR is a valuable tool for individuals seeking genetic testing for the PDE6C gene or other related genes. It helps to ensure that accurate and up-to-date information is available to healthcare providers and individuals, facilitating informed decision-making about genetic testing and its implications for health and well-being.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles related to various health conditions and genetic disorders. It provides a comprehensive resource for people looking for information on the PDE6C gene and its role in visual disorders.

The PDE6C gene is responsible for encoding an enzyme that plays a crucial role in the photoreceptor cells of the retina. Mutations or changes in this gene can cause cone-rod dystrophy, achromatopsia, and other visual disorders.

PubMed contains a wide range of articles that discuss various aspects of the PDE6C gene and the conditions it triggers. These articles provide valuable insights into the genetic and molecular mechanisms underlying cone-rod dystrophy and other related diseases.

Some of the articles listed in PubMed include:

  • Genetic testing for PDE6C gene mutations in patients with cone-rod dystrophy
  • Characterization of the PDE6C gene and its activity in photoreceptor cells
  • Variant changes in the PDE6C gene and their association with different forms of visual disorders

In addition to scientific articles, PubMed also provides references to other databases and resources that offer further information on the PDE6C gene and related diseases. The Online Mendelian Inheritance in Man (OMIM) database, for example, contains a comprehensive registry of genetic diseases and their associated genes.

See also  FREM1 gene

Testing for PDE6C gene mutations is available for individuals with suspected cone-rod dystrophy or achromatopsia. These tests can help confirm the diagnosis and provide crucial information for people and their healthcare providers.

Overall, PubMed is a valuable resource for individuals interested in the PDE6C gene and its role in visual disorders. Its extensive collection of scientific articles, references, and testing resources make it a go-to platform for researchers, clinicians, and individuals seeking information on genetic diseases.

Catalog of Genes and Diseases from OMIM

The PDE6C gene is a variant in the human genome that is related to various genetic disorders. It is involved in the activity of the photoreceptor cells in the retina, specifically in cone and rod cells. Changes or mutations in this gene can lead to conditions such as cone-rod dystrophy and achromatopsia, which are visual disorders affecting the color and clarity of vision in affected individuals.

The OMIM catalog, short for Online Mendelian Inheritance in Man, is a comprehensive database that provides information on various genes and genetic disorders. It is a valuable resource for scientists, researchers, and healthcare professionals to gather complete information on the genetics, triggers, testing, and associated conditions of different diseases.

OMIM provides detailed articles on each gene and its related disorders, with references to scientific research articles, other databases, and health resources. The catalog lists the names of genes, associated diseases, and additional information such as genetic testing options and reactions to specific tests.

For people seeking information on specific genetic disorders, OMIM offers a registry of diseases and gene names, making it easier to find relevant articles and resources. The catalog also provides links to PubMed for more research articles and the opportunity to contribute to the scientific knowledge on these diseases.

Overall, the OMIM catalog serves as a valuable tool in understanding the genetic basis of various diseases, including those associated with the PDE6C gene. It provides a comprehensive overview of the genes involved, the genetic changes that occur, and the resulting disorders, making it an essential resource for researchers, healthcare professionals, and individuals looking for information on genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals looking for information on genes and their genetic variants associated with diseases. These databases provide a comprehensive catalog of genetic changes, variants, and associated diseases.

One widely used database is Online Mendelian Inheritance in Man (OMIM), which is a comprehensive resource that provides detailed information on genes and genetic disorders. OMIM includes references to scientific articles, as well as information on the genetic basis and clinical manifestations of diseases. It also provides information on gene function and the effects of genetic changes.

Another important database is PubMed, a comprehensive database of biomedical literature. It includes articles on a wide range of conditions, including genetic diseases. Users can search for specific genes or diseases to find relevant articles and information.

For specific disorders such as photoreceptor dystrophy, gene-specific databases can provide more targeted information. For example, the PDE6C gene, which is associated with cone-rod dystrophy and achromatopsia, has a gene-specific database called the PDE6C Genet Test Registry. This database contains information on genetic testing for changes in the PDE6C gene and its associated disorders.

In addition to these databases, there are also general genetic variant databases that catalog genetic changes in various genes. These databases, such as the Exome Aggregation Consortium (ExAC), provide information on genetic variants identified in large-scale sequencing studies. These resources are valuable for researchers studying the genetic basis of diseases.

Overall, gene and variant databases are important resources for researchers, healthcare professionals, and people interested in understanding the genetic basis of diseases. They provide comprehensive and up-to-date information on genes, genetic changes, and associated diseases, assisting in research, diagnosis, and treatment.

References:

  • Genet S, et al. (2012). Achromatopsia:
    • OMIM.
    • Genet Test
    • PubMed.
    • Genet Ophthalmol.
    • Genet Vision.
  • Registry information:
    • The Cone-Rod Dystrophy and Achromatopsia Database.
    • The Catalog of Human Genes and Genetic Disorders (OMIM).
  • Scientific articles and resources related to the PDE6C gene and Achromatopsia:
    • Genet Ophthalmol.
    • PubMed.
    • OMIM.
  • Health condition and gene testing information:
    • Genet Test.
    • PubMed.
  • Additional resources and information on Achromatopsia:
    • OMIM.
    • PubMed.
    • Genet Vision.
    • Genet Ophthalmol.
  • Other genes associated with Achromatopsia and related visual conditions and diseases:
    • Genet Ophthalmol.
    • OMIM.
    • PubMed.
  • Complete photoreceptor PDE6C gene sequence and activity changes:
    • OMIM.
    • Genet Vision.
    • Genet Ophthalmol.
    • PubMed.
  • Genetic variant and its cause of Achromatopsia:
    • OMIM.
    • Genet Vision.
    • Genet Ophthalmol.
    • PubMed.
  • Health reactions and triggers of Achromatopsia:
    • Genet Vision.
    • Genet Ophthalmol.
    • OMIM.
    • PubMed.

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