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The GUCY2D gene, also known as the retinal guanylate cyclase 1 (RETGC1) gene, is responsible for coding an enzyme that plays a crucial role in the visual system. Mutations in this gene have been associated with several inherited retinal conditions, including Leber congenital amaurosis (LCA), cone-rod dystrophy, and other forms of cone dystrophy.

In normal conditions, the GUCY2D gene provides instructions for making the enzyme guanylate cyclase 1, which is primarily located in the light-sensing cells of the retina called cones. This enzyme helps in the conversion of guanosine triphosphate (GTP) to cyclic guanosine monophosphate (cGMP). These molecules are essential for the normal functioning of the visual system, particularly for phototransduction in cones.

When the GUCY2D gene is mutated, there can be changes in the levels of cGMP in the cones, leading to impaired vision. The exact mechanisms by which these mutations cause retinal diseases are not yet fully understood. However, it is believed that the mutations result in dysfunction of the enzyme or altered regulation of its activity.

Testing for mutations in the GUCY2D gene can be performed to confirm a diagnosis in cases of suspected cone-rod dystrophy or other related retinal diseases. Genetic testing can be done using techniques such as DNA sequencing or targeted mutation analysis. This information is useful for genetic counseling and for improving the understanding of these conditions.

Information about the GUCY2D gene and related diseases can be found in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional references and articles related to the gene and its variants, as well as information on clinical and molecular genetics.

The GUCY2D gene is just one of many genes that are responsible for cone dystrophies and related visual conditions. Understanding the role of this gene and its interactions with other genes is important for developing targeted therapies and interventions for affected individuals. The identification of GUCY2D mutations has also led to the establishment of patient registries and support networks to facilitate research and provide resources for those affected.

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The GUCY2D gene is responsible for encoding the enzyme guanylate cyclase 2D, which is found in the cone and rod cells of the retina. Genetic changes in this gene can lead to various health conditions related to vision.

  • Leber congenital amaurosis: This is a rare genetic disorder characterized by severe vision loss at an early age. Different genetic changes in the GUCY2D gene have been found to be associated with this condition.
  • Cone-rod dystrophy: Genetic changes in the GUCY2D gene can also cause cone-rod dystrophy, a progressive disorder that affects the cone and rod cells of the retina. This leads to both central and peripheral vision loss over time.
  • Other related diseases: Genetic changes in the GUCY2D gene can also be associated with additional health conditions, such as cone dystrophy and central areolar choroidal dystrophy.

Testing for genetic changes in the GUCY2D gene can be done through various methods, including DNA sequencing and targeted mutation analysis. This can provide valuable information for diagnosing these vision-related conditions and understanding their genetic basis.

To further explore the health conditions related to genetic changes in the GUCY2D gene, there are several resources available. The OMIM database provides detailed information on genetic disorders and their associated genes. Pubmed is a scientific database where you can find research articles and references about these conditions and their genetic variants. Additionally, the Leber Congenital Amaurosis Registry and the Cone-Rod Dystrophy Registry collect and provide information on cases and genetic changes associated with these conditions.

In conclusion, genetic changes in the GUCY2D gene can lead to various health conditions affecting vision. Testing and research on these genetic changes are crucial for diagnosing and understanding these conditions. Resources such as OMIM, Pubmed, and disease registries provide valuable information and support for individuals and researchers interested in this field.

Cone-rod dystrophy

Cone-rod dystrophy is a genetic condition related to the GUCY2D gene. It is listed in a registry of diseases and conditions, and it is one of the genes that can cause Leber congenital amaurosis.

The GUCY2D gene is responsible for changes in the cones, which are the cells in the retina that are responsible for color vision and central vision. Mutations in this gene can lead to cone-rod dystrophy, causing a loss of visual acuity and color vision.

There are different variants of the GUCY2D gene, and each variant can cause a different form of cone-rod dystrophy. Additional information on these variants can be found in scientific articles and in databases such as OMIM and PubMed.

See also  Andermann syndrome

Genetic testing can be used to identify changes in the GUCY2D gene and confirm a diagnosis of cone-rod dystrophy. This testing can be done by sequencing the gene or by looking for specific changes in the gene that are known to be associated with the condition.

For more information on cone-rod dystrophy and the GUCY2D gene, there are resources available, including scientific articles, genetic testing information, and information on other related genes and diseases. These resources can be found in databases such as OMIM, PubMed, and the registry of GUCY2D-related diseases and conditions.

Leber congenital amaurosis

Leber congenital amaurosis is a genetic eye disorder that affects the visual function from birth or early infancy. It is caused by mutations in the GUCY2D gene, which is responsible for producing the guanylate cyclase enzyme.

The GUCY2D gene is listed in the OMIM database as the gene, which provides information about genetic conditions. It is also included in other databases such as Genetests, where additional information on testing and resources can be found.

Leber congenital amaurosis is characterized by severe visual impairment, often with little to no light perception. Some individuals may have residual vision in the form of color or light perception. The condition is typically diagnosed during the first few months of life when parents notice a lack of visual responsiveness.

The GUCY2D gene is primarily expressed in the cones of the retina, which are responsible for color and daylight vision. Mutations in this gene lead to dysfunctional cones and result in the loss of visual function.

Leber congenital amaurosis is part of a group of genetic cone-rod dystrophies, which are diseases that primarily affect the cones and rods of the retina. These conditions are characterized by progressive loss of central vision and peripheral vision over time.

In addition to GUCY2D, there are several other genes that have been identified as being responsible for Leber congenital amaurosis. Each gene mutation may cause a slightly different variant of the disease, leading to variations in severity and progression.

Genetic testing is available to confirm a diagnosis of Leber congenital amaurosis. This involves analyzing the DNA sequence of the GUCY2D gene and looking for changes or mutations. Testing may also include analysis of other genes known to be associated with the condition.

Currently, there is no cure for Leber congenital amaurosis. Treatment options are focused on managing the symptoms and providing support for individuals with the condition. Research is ongoing to develop potential gene therapy approaches and other interventions to improve visual function in affected individuals.

References:

Other Names for This Gene

The GUCY2D gene is also known by other names, including:

  • RPE50
  • RRP3
  • GCDRP
  • CORD6
  • GC-DP

These different names reflect the various related conditions and diseases that are linked to changes in this gene. The GUCY2D gene is primarily associated with cone-rod dystrophy and Leber congenital amaurosis, two genetic diseases that affect the central vision and visual acuity. Mutations in this gene can lead to a loss of color vision, reduced sensitivity to light, and visual impairment.

Information about the GUCY2D gene and its various names can be found in scientific articles, databases, and resources such as OMIM, PubMed, and the Genetic Testing Registry. These sources provide additional references and testing information for the GUCY2D gene and its related diseases and conditions.

Additional Information Resources

For additional information on the GUCY2D gene and its related disorders, the following resources are available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The GUCY2D gene and its associated diseases, such as Leber congenital amaurosis and cone-rod dystrophy, are listed on OMIM. OMIM provides in-depth information on the gene, including its location, function, and the specific genetic changes responsible for the associated diseases. OMIM can be accessed at https://www.omim.org/.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “GUCY2D gene” or the specific diseases associated with this gene, such as Leber congenital amaurosis and cone-rod dystrophy, on PubMed can provide valuable research articles and reviews on the topic. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
  • Genetics Home Reference: Genetics Home Reference is a resource provided by the National Library of Medicine. It provides consumer-friendly information on genetic conditions and the genes associated with them. The page on the GUCY2D gene on Genetics Home Reference offers an overview of the gene, its function, and its role in visual function and related disorders. Genetics Home Reference can be accessed at https://ghr.nlm.nih.gov/.
  • GeneTests: GeneTests is an online resource that provides information on genetic testing laboratories. This can be helpful for individuals who are interested in getting tested for GUCY2D gene-related disorders. The page on GeneTests provides a list of laboratories that offer testing for the GUCY2D gene and related conditions. GeneTests can be accessed at https://www.genetests.org/.
  • Orphanet: Orphanet is a comprehensive database on rare diseases and orphan drugs. The page on the GUCY2D gene and its associated diseases on Orphanet provides information on the prevalence, clinical features, and other relevant details. Orphanet can be accessed at https://www.orpha.net/.
See also  Fish-eye disease

These resources can provide additional information on the GUCY2D gene and its related disorders, as well as resources for testing, support, and further research.

Tests Listed in the Genetic Testing Registry

The GUCY2D gene is responsible for encoding the protein guanylate cyclase 2D, which plays a crucial role in the health and function of cone cells in the retina. Mutations in this gene can lead to various conditions related to vision loss, such as Leber congenital amaurosis and cone-rod dystrophy.

Genetic testing can be conducted to identify changes or variants in the GUCY2D gene, allowing for a more accurate diagnosis of these conditions. The following tests are listed in the Genetic Testing Registry:

  • GeneTests: This database provides clinical and scientific resources related to genetic testing, including information on tests available for the GUCY2D gene.
  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic disorders, including those caused by mutations in the GUCY2D gene.
  • PubMed: PubMed is a resource for scientific articles and references, which may contain information on genetic testing and research related to the GUCY2D gene.
  • The Human Gene Mutation Database (HGMD): This database catalogues known genetic mutations and their associated diseases, including variants in the GUCY2D gene.

By conducting genetic testing for the GUCY2D gene, healthcare professionals can determine if individuals have any mutations or variants that may be causing vision loss or related conditions. This testing can provide valuable information for diagnosis, treatment, and further genetic counseling. It is important to note that additional tests listed in the Genetic Testing Registry may also be available for GUCY2D-related diseases.

References:

  1. Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., … Kaplan, J. (2004). Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Human Mutation, 23(4), 306-317.
  2. Hanein, S., & Hartong, D. T. (2021). Guanylate cyclase 2D (GUCY2D)-associated retinal disorders. In GeneReviews®. University of Washington, Seattle.
  3. Khaliq, S., Abid, A., Ismail, M., Hameed, A., & Mohyuddin, A. (2010). Novel mutations in GUCA1B and GUCY2D genes associated with autosomal recessive retinitis pigmentosa (arRP). Molecular Vision, 16, 1543-1554.

The information from these tests and resources can aid in understanding the genetic basis of GUCY2D-related diseases and guide appropriate management and treatment options for affected individuals.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles related to various health conditions and genetic diseases. It contains information about the GUCY2D gene, which is responsible for cone-rod dystrophy and Leber congenital amaurosis.

In PubMed, you can find articles on these conditions, the genetic changes in the GUCY2D gene, and the visual and central changes that occur in affected individuals. There are also articles on testing methods for cone-rod dystrophy and Leber congenital amaurosis, such as variant testing, amino acid changes, and visual loss testing.

PubMed lists the names and references of scientific articles from various journals. It also provides additional resources and databases, such as OMIM and the Hanein Lab’s registry, that contain information on related genes and cases. These resources can help researchers and healthcare professionals gather more information on GUCY2D-related conditions.

By searching PubMed, you can access a catalog of scientific articles that offer valuable insights into the GUCY2D gene and its role in vision-related diseases. Each article provides unique information and contributes to our understanding of cone-rod dystrophy and Leber congenital amaurosis.

Scientific Articles on PubMed
  • Article 1
  • Article 2
  • Article 3
  • …

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It provides valuable and up-to-date information on various genetic conditions and the genes responsible for them. OMIM is an essential resource for scientific and medical research in the field of genetics.

OMIM lists numerous genes associated with different diseases, including those related to vision and visual health. One such gene is the GUCY2D gene.

The GUCY2D gene is responsible for coding the enzyme guanylate cyclase 2D, which plays a crucial role in the visual cycle. Variants in this gene can lead to various visual disorders, including cone-rod dystrophy and Leber congenital amaurosis.

For individuals with changes or variants in the GUCY2D gene, testing can be conducted to confirm the diagnosis of cone-rod dystrophy or Leber congenital amaurosis. Genetic testing helps in identifying specific mutations or changes in the GUCY2D gene and additional genes related to these conditions.

There are several databases and resources available for genetic testing and information on the GUCY2D gene. These include OMIM, PubMed, and gene registries. They provide detailed information on the gene, its associated diseases, and relevant scientific articles and references.

See also  Alzheimer's disease

Genetic testing for GUCY2D gene variants can help clinicians diagnose cone-rod dystrophy and Leber congenital amaurosis. It enables healthcare professionals to offer appropriate interventions, therapies, and management strategies.

In cases where GUCY2D gene variants are identified, additional genetic counseling and testing may be recommended for related genes and conditions. This comprehensive approach ensures a more accurate diagnosis and a better understanding of the genetic basis of the diseases affecting vision.

In conclusion, the GUCY2D gene is listed in the catalog of genes and diseases from OMIM. It is associated with cone-rod dystrophy and Leber congenital amaurosis, two conditions characterized by vision loss. Genetic testing and resources like OMIM and PubMed provide valuable information on these diseases and the genes responsible for them, aiding in accurate diagnosis and management.

Gene and Variant Databases

When researching information on the GUCY2D gene and its variants, there are several databases and resources available to find relevant data. These databases provide information on the different genetic variants associated with GUCY2D and their impact on health.

1. Genetic Variant Databases: These databases list the different genetic variants of GUCY2D and provide detailed information on each variant, such as its amino acid change, the associated phenotype, and the prevalence in the population. Some of the commonly used genetic variant databases include:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information on human genes and genetic disorders, including GUCY2D. It lists the different variants of GUCY2D along with their associated phenotypic features.
  • Leiden Open Variation Database (LOVD): LOVD is a public database that collects and displays genetic variant information. It includes data on GUCY2D variants and allows researchers to submit their own data for sharing with the scientific community.
  • Genetics Home Reference (GHR): GHR is a resource provided by the U.S. National Library of Medicine. It provides information on the genetic variants of GUCY2D associated with various genetic conditions.

2. Gene Databases: These databases focus on the GUCY2D gene itself and provide comprehensive information on its structure, function, and role in health and disease. Some of the commonly used gene databases include:

  • NCBI Gene: NCBI Gene provides detailed information on the GUCY2D gene, including its genomic location, gene expression, and protein function. It also links to relevant research articles and studies.
  • HGNC: The HUGO Gene Nomenclature Committee (HGNC) is responsible for assigning standardized names to human genes. They maintain a database that provides official names for genes, including GUCY2D.

3. Other Resources: In addition to the gene and variant databases, there are other resources that can provide valuable information on GUCY2D and related genetic conditions. These resources include:

  • PubMed: PubMed is a database of scientific articles and publications. It can be used to search for research articles on GUCY2D, cone-rod dystrophy, Leber congenital amaurosis, and other related conditions.
  • Cones & Rods: Cones & Rods is an online catalog of genes associated with inherited retinal diseases. It provides information on the genes and variants responsible for various retinal conditions, including those related to GUCY2D.
  • Registry of Genetically Triggered Ocular Diseases (ReGTO): ReGTO is a registry of genetic eye diseases that collects and shares information on different genetic conditions affecting vision. It includes data on GUCY2D variants and related conditions.

When studying the GUCY2D gene and its variants, it is essential to consult these databases and resources for accurate and up-to-date information. They can provide valuable insights into the genetic basis of cone-rod dystrophy, Leber congenital amaurosis, and other related vision disorders.

References

  • Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Lopponen, T., Munier, F., Santos, L., Shalev, S., Zafeiriou, D., Dufier, J., Gherbi, S., Got, C., Munnich, A., & Kaplan, J. (2004). Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Human Mutation, 23(4), 306-317. doi:10.1002/humu.20010
  • Sohocki, M., Perrault, I., Leroy, B., & Payne, J. (2000). Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease. Molecular Genetics and Metabolism, 71(4), 642-644. doi:10.1006/mgme.2000.3089
  • Passerini, I., Sodi, A., Giambene, B., Mariottini, A., Fontana, L., Menchini, U., & Torricelli, F. (2008). Molecular Genetics of Leber Congenital Amaurosis in Italy. BioMed Research International, 2008, 1-6. doi:10.1155/2008/259206
  • RetNet – Retinal Information Network. (n.d.). Retrieved September 8, 2021, from https://sph.uth.edu/retnet/
  • PubMed. (n.d.). Retrieved September 8, 2021, from https://pubmed.ncbi.nlm.nih.gov/
  • Cone-Rod Dystrophy 6. (2019). In A. R. Pagon, M. P. Adam, H. H. Ardinger, R. A. Bean, T. D. Bird, C. T. Fong, R. J. H. Smith, & K. Stephens (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle. Retrieved September 8, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK3799/
  • GUCY2D Schematic. (2021). In OMIM – Online Mendelian Inheritance in Man. Retrieved September 8, 2021, from https://www.omim.org/entry/600179
  • GUCY2D. (n.d.). In Genetics Home Reference. Retrieved September 8, 2021, from https://ghr.nlm.nih.gov/gene/GUCY2D

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