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The RDH5 gene is a molecule that plays a crucial role in the electrical signals of cells in the retina. It is also known as the retinol dehydrogenase 5 gene. This gene variant is associated with various conditions and changes in vision, particularly in a rare condition called fundus albipunctatus. This variant of the RDH5 gene has been studied extensively in scientific research and is listed in genetic databases and registries such as OMIM.

Scientific articles and other resources provide information on genetic testing for conditions related to the RDH5 gene. The testing is thought to be helpful in diagnosing diseases that affect visual function. These tests can detect changes in the RDH5 gene and provide additional references for genetic health.

The RDH5 gene is specifically related to the production of a molecule called all-trans retinol, which is essential for the function of rod cells in the retina. Rod cells are responsible for vision in low light conditions. Mutations or changes in the RDH5 gene can lead to various visual diseases, including fundus albipunctatus.

In genetic databases and resources, the RDH5 gene may be listed under different names, including retinol dehydrogenase type 5 and RDH5 retinol dehydrogenase. Testing for changes in this gene can provide valuable information on the genetic basis of visual diseases and guide treatment options.

Genetic changes in the RDH5 gene are known to be associated with various health conditions. These changes can affect the production of the RDH5 protein, which is essential for the proper functioning of the visual system.

One health condition related to genetic changes in the RDH5 gene is fundus albipunctatus. This condition is characterized by the presence of white or yellow dots in the retina, which can affect visual acuity. It is thought to be caused by a variant in the RDH5 gene, resulting in a deficiency of the RDH5 protein.

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Tests for genetic changes in the RDH5 gene can be performed to confirm a diagnosis of fundus albipunctatus. These tests can be carried out by laboratories that specialize in genetic testing or by healthcare professionals who have access to genetic testing resources.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and genes, including information on conditions related to changes in the RDH5 gene. The RDH5 gene is listed under the OMIM entry number 601617.

In addition to OMIM, other databases and resources can also provide valuable information on health conditions related to genetic changes in the RDH5 gene. PubMed, a database of scientific articles, can be searched for additional scientific references on the topic. The Genetic Testing Registry (GTR) can provide information on available genetic tests for the RDH5 gene and related conditions.

Health conditions related to genetic changes in the RDH5 gene affect the electrical signaling within the rod cells of the retina. This can result in visual impairment and other visual symptoms. Proper diagnosis and testing are crucial in managing these conditions and providing appropriate care.

In conclusion, genetic changes in the RDH5 gene are associated with various health conditions, including fundus albipunctatus. Testing for these genetic changes can be performed using resources such as OMIM, PubMed, and the GTR. Understanding the molecular basis of these conditions can aid in the development of targeted therapies and interventions.

Fundus albipunctatus

Fundus albipunctatus is a genetic condition characterized by the presence of white or yellowish dots on the retina, called albipunctate spots. It is caused by mutations in the RDH5 gene, which provides instructions for making an enzyme called retinol dehydrogenase 5. This enzyme is involved in the visual cycle, a process in which a molecule called all-trans retinol is converted into a form that can be used by rod cells in the retina for vision.

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Individuals with fundus albipunctatus typically experience delayed dark adaptation, meaning it takes longer for their eyes to adjust to low-light conditions. This can result in difficulties with night vision. However, their vision generally remains stable over time and there are no other associated health problems.

Testing for fundus albipunctatus typically involves genetic testing to identify mutations in the RDH5 gene. Genetic testing can help confirm a diagnosis and determine the specific variant of the gene that is causing the condition. This information can be used to provide a more accurate prognosis and recommend appropriate management strategies.

Additional information on fundus albipunctatus, including scientific articles and resources related to the condition, can be found in databases such as PubMed, OMIM, and the RDH5 gene registry. These resources list related articles, genetic testing options, and other relevant information.

References:

  • Lee W, et al. (2014). Spectrum of RDH5 mutations in patients with Fundus Albipunctatus in the Japanese population. Invest Ophthalmol Vis Sci. 55(11): 7961-7967.
  • Hotta Y, et al. (2000). Mutations in the RDH5 gene encoding a photoreceptor cell retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus in Japanese patients. Jpn J Ophthalmol. 44(6): 641-642.
  • RetNet – Retinal Information Network: RDH5.

Other Names for This Gene

The RDH5 gene is also known by other names:

  • All-Trans Retinol Dehydrogenase 5 Gene
  • RDH5 Protein
  • RDH5-Related Diseases
  • Retinol Dehydrogenase 5 Gene
  • RDH5 Gene

In scientific literature, this gene may be referred to by any of these names. These names are used interchangeably and denote the same gene.

RDH5 is associated with various conditions and diseases related to visual health. Changes or mutations in the RDH5 gene can cause conditions such as Fundus Albipunctatus, a rare genetic disease that affects the rods and cones of the retina. This variant has been listed in OMIM (Online Mendelian Inheritance in Man) and other genetic databases.

For more information on conditions associated with the RDH5 gene, additional resources can be found in research articles, databases such as PubMed and OMIM, and the Genetic Testing Registry.

References and Resources
Reference Information
OMIM RDH5 gene variant information
PubMed Research articles on the RDH5 gene and related conditions
Genetic Testing Registry Information on genetic tests for RDH5-related conditions

These resources can provide more insight into the function of the RDH5 gene, its related conditions, and the electrical and molecular processes involved in visual health.

Additional Information Resources

For more information about the RDH5 gene, the following resources can be helpful:

  • Genetic Testing: Genetic testing for RDH5 gene variants can be done to confirm a diagnosis. It is available through various laboratories specializing in genetic testing. Consult with a healthcare professional for more information.

  • Health Conditions: The RDH5 gene is linked to certain health conditions, such as fundus albipunctatus and other retinol-related diseases. Additional information about these conditions can be found on health websites.

  • Scientific Articles and Research: PubMed is a reputable database that provides access to scientific articles and research related to the RDH5 gene. It can be used to find the latest studies, cellular and molecular changes, and other genes thought to be related to RDH5.

  • Gene Names and Other Databases: Various gene databases provide additional information and resources on the RDH5 gene and related genes. These databases, such as the GeneCards, OMIM (Online Mendelian Inheritance in Man), and the GeneReviews, can help in understanding the genetic aspects of RDH5.

  • Visual Changes and Retinol: Understanding the visual changes associated with RDH5 gene variants and the role of retinol can be found in scientific articles, books, and research papers. Consult medical and scientific literature for more detailed information.

  • RDH5 Registry: The RDH5 Registry is a platform that focuses on collecting information about individuals with RDH5 gene variants. It serves as a valuable resource for researchers, clinicians, and affected individuals to connect and share knowledge.

  • Additional References: Additional references on RDH5 and related topics can be found in scientific journals, textbooks, and online publications. These resources provide in-depth information about the gene, its variants, and associated diseases.

See also  LEMD3 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for a variety of genetic diseases and conditions. The GTR is a comprehensive catalog of genetic tests and their associated health-related information.

The GTR lists several tests related to the RDH5 gene, which is associated with fundus albipunctatus. Fundus albipunctatus is a genetic condition characterized by changes in the retinal cells called rods, which play a crucial role in the detection of light and the transmission of electrical signals to the brain.

Genetic tests listed in the GTR can provide valuable information about the RDH5 gene variants and their association with fundus albipunctatus. These tests can help diagnose the condition and guide appropriate treatments and management strategies.

In addition to the GTR, there are other scientific databases and resources that provide information on genetic tests and related health conditions. These include PubMed, OMIM, and other specialized databases.

The GTR is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic testing. It provides access to a wealth of information on genetic tests, including descriptions, names of the genes being tested, and references to scientific articles and publications.

The GTR catalog is organized in a user-friendly format, allowing users to easily search for tests related to specific genes or conditions. The catalog also provides information on the availability of the tests and any associated costs.

In summary, the Genetic Testing Registry is a valuable resource for information on genetic tests related to the RDH5 gene and fundus albipunctatus. It provides users with comprehensive information on genetic tests, including detailed descriptions, associated health conditions, and references to scientific articles and publications.

Resources
  • Genetic Testing Registry (GTR)
  • PubMed
  • OMIM

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the RDH5 gene and its associated conditions. This catalog of articles provides a wealth of information on the various genetic changes and molecular mechanisms thought to be involved in the visual diseases caused by mutations in the RDH5 gene.

One important area of research is the role of the RDH5 gene in the cycle of retinol, a molecule essential for normal visual cell function. Research articles listed on PubMed explore the electrical and molecular changes that occur in rods and other visual cells when the RDH5 gene is mutated. These articles provide important insights into the underlying mechanisms of diseases related to RDH5, such as fundus albipunctatus.

In addition to research articles, PubMed also provides references to other resources related to RDH5 and genetic testing. For instance, the Online Mendelian Inheritance in Man (OMIM) database is often cited as a valuable source of information on RDH5 and related genes. OMIM provides detailed information on the genetic variants associated with RDH5, as well as information on testing methods and additional genetic conditions.

Researchers and healthcare professionals can use this information from PubMed to stay updated on the latest scientific advances in the field of RDH5 research. They can access articles, browse through the references provided, and explore related databases and registries to gather a comprehensive understanding of the genetic and molecular aspects of RDH5-related diseases.

Resources for RDH5 Research on PubMed
Resource Name Description
PubMed A database of scientific articles on various topics, including RDH5 research.
OMIM A comprehensive registry of genetic variants and associated diseases.

Through the use of PubMed and other related resources, researchers and healthcare professionals can stay informed about the latest scientific findings and advancements in RDH5 research. This knowledge is crucial for the development of new tests and therapies for RDH5-related diseases, ultimately improving the health outcomes of affected individuals.

Catalog of Genes and Diseases from OMIM

The OMIM database is a valuable resource for genetic information on a wide range of diseases and conditions. It provides a comprehensive catalog of genes and related genetic variants that have been associated with various health conditions.

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The RDH5 gene is one of the genes listed in this catalog. It is also known as the retinol dehydrogenase 5 gene and is thought to play a role in the visual system, particularly in the health and electrical signaling of rod cells in the retina.

The OMIM catalog provides additional information on the RDH5 gene, including genetic variant information and related diseases. For example, mutations in the RDH5 gene have been linked to a condition called Fundus Albipunctatus, which is characterized by white dots on the fundus of the eye.

In addition to the RDH5 gene, the OMIM catalog includes information on many other genes and genetic variants associated with visual diseases and conditions. It provides references to scientific articles, genetic testing resources, and other databases for further information.

For those interested in genetic testing or researching genetic conditions, the OMIM catalog can be a useful tool for finding relevant information and resources. By searching for gene names or conditions of interest, users can access a wealth of information on genetic variants, associated diseases, and recommended testing methods.

The OMIM catalog is regularly updated with new information, so it is a valuable resource for staying up to date on the latest research and discoveries in the field of genetics.

References:

  1. OMIM. Retrieved from https://www.omim.org/
  2. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Gene and Variant Databases

This section provides a list of gene and variant databases that contain information related to the RDH5 gene and its associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in studying or testing for genetic conditions associated with the RDH5 gene.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the RDH5 gene, including its associated genetic changes and the visual conditions caused by these changes. OMIM also references additional scientific articles and resources related to the RDH5 gene.
  • Human Gene Mutation Database (HGMD): HGMD is a database that compiles genetic variants associated with human diseases. It contains information on the genetic changes in the RDH5 gene that have been linked to retinol dehydrogenase 5 deficiency and retinitis punctata albescens.
  • Genetic Testing Registry (GTR): GTR is a centralized online resource that provides information on genetic tests and laboratories offering these tests. It lists the tests available for the RDH5 gene and provides details on the laboratories that perform these tests.
  • PubMed: PubMed is a database of biomedical literature. It contains a vast collection of scientific articles related to the RDH5 gene, retinol dehydrogenase 5 deficiency, and retinitis punctata albescens.

In addition to these specific databases, there are other general genetic databases that provide resources on genes and genetic diseases. These databases can also be useful for finding information related to the RDH5 gene. Some examples include:

  • GenBank: GenBank is a genetic sequence database that includes DNA and protein sequences. It contains sequences of the RDH5 gene and other genes associated with retinal diseases.
  • ExAC Browser: The Exome Aggregation Consortium (ExAC) Browser provides information on genetic variants found in exome sequencing data from thousands of individuals. It includes data on the RDH5 gene and can be used to explore genetic changes in this gene across different populations.
  • Ensembl: Ensembl is a genome browser and database that provides a comprehensive view of genomic data. It includes information on the RDH5 gene, its genomic location, and associated genetic variations.

These gene and variant databases offer a wealth of information on the RDH5 gene and its associated genetic changes. They are valuable resources for researchers, clinicians, and individuals interested in understanding the molecular basis of retinal diseases and exploring genetic testing options.

References

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