The MYOC gene is related to a number of genetic changes and diseases. It is also known as myocilin and is associated with open-angle glaucoma, a condition that affects the optic nerve and can cause vision loss. The MYOC gene is listed in various genetic resources, such as OMIM, ClinVar, and the Genetic Testing Registry.

Variants in the MYOC gene have been implicated in early-onset open-angle glaucoma, a form of the disease that occurs within the first decades of life. This gene encodes a protein that plays a role in the response to glucocorticoid and is involved in regulating intraocular pressure. Changes in this gene are associated with an increased risk of developing glaucoma.

There is a wealth of scientific articles, databases, and other resources available for further information on the MYOC gene and its related conditions. PubMed, OMIM, and ClinVar are just a few of the databases that contain references to this gene and provide additional information on its function and involvement in various disorders.

Genetic testing is available for MYOC gene variants and can be used to determine an individual’s risk for developing glaucoma. This testing can also provide valuable information for early intervention and treatment options. It is important for people with a family history of glaucoma or related eye disorders to consider genetic testing to better understand their risk and take appropriate steps to protect their vision and overall health.

The MYOC gene is associated with several health conditions and diseases. Genetic changes in this gene have been found to cause primary open-angle glaucoma (POAG), an eye disorder characterized by high intraocular pressure and progressive damage to the optic nerve. The MYOC gene provides instructions for making the myocilin protein, which is involved in the regulation of intraocular pressure. Genetic changes in the MYOC gene can disrupt the normal function of this protein, leading to the development of glaucoma.

Genetic testing can detect changes in the MYOC gene and help diagnose individuals with a risk of developing glaucoma. Early-onset primary open-angle glaucoma (POAG) may be caused by genetic changes in MYOC and other genes.

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Additional health conditions related to genetic changes in MYOC have also been identified. These conditions are listed in the OMIM database, a catalog of genetic disorders. Glucocorticoid response, a specific variant in the MYOC gene, is associated with a heightened response to glucocorticoid treatment and an increased risk of developing glaucoma.

For more information on the genetic changes in the MYOC gene, the OMIM database and scientific articles listed in PubMed are valuable resources. Genetic testing and registry databases can provide people with additional information on health conditions related to changes in the MYOC gene.

Early-onset glaucoma

Glaucoma is a group of diseases that can cause damage to the optic nerves and result in vision loss. Early-onset glaucoma refers to glaucoma that occurs at a young age, typically before the age of 40.

One of the genes associated with early-onset glaucoma is the MYOC gene. Mutations in this gene can lead to the production of a faulty protein called myocilin, which can accumulate in the eye’s drainage system and increase intraocular pressure. Increased intraocular pressure is a major risk factor for primary open-angle glaucoma, which is the most common form of glaucoma.

To date, several variants in the MYOC gene have been identified as being associated with early-onset glaucoma. These variants can be detected through genetic testing, which can help identify individuals at risk for developing the disease.

Information about the MYOC gene and its association with early-onset glaucoma can be found in scientific articles, databases, and registries dedicated to genetic diseases and genetic testing. Some of these resources include OMIM, ClinVar, PubMed, and the Genetic Testing Registry. These resources provide valuable information on the genetic changes associated with early-onset glaucoma, as well as references to relevant scientific articles.

In addition to the MYOC gene, other genes have also been implicated in early-onset glaucoma. Understanding the role of these genes in the development of the disease can provide important insights into the underlying mechanisms of glaucoma and potentially lead to the development of new treatments.

See also  CLPP gene

For people with early-onset glaucoma and their families, it is important to seek medical attention and genetic counseling. Genetic testing can help assess the individual’s risk of developing glaucoma and inform treatment decisions. It can also provide information on other genetic conditions that may be associated with glaucoma.

In conclusion, early-onset glaucoma is a form of glaucoma that occurs at a young age. The MYOC gene and other genes have been implicated in the development of this condition. Genetic testing and resources such as scientific articles, databases, and registries can provide valuable information for health professionals and individuals affected by early-onset glaucoma.

Other disorders

In addition to glaucoma, mutations in the MYOC gene have also been associated with a range of other disorders. These disorders are characterized by various clinical and genetic changes. The OMIM database, an open-access catalog of human genes and genetic disorders, lists additional disorders related to mutations in the MYOC gene.

One example is early-onset primary open-angle glaucoma, which is also known as juvenile open-angle glaucoma. This variant of glaucoma typically affects individuals before the age of 40 and is often associated with myocilin gene mutations.

Further research and testing have suggested possible links between MYOC gene mutations and other primary open-angle glaucoma cases.

Scientific articles published in PubMed have documented cases of primary open-angle glaucoma in people with MYOC gene mutations, as well as references to this genetic variant of glaucoma in response to glucocorticoid treatment. The OMIM catalog and other resources can provide more information about these associations.

Within the realm of genetic diseases, the MYOC gene mutations are most commonly associated with glaucoma. However, ongoing research may uncover new connections between this gene and other disorders.

A registry for patients with MYOC-related disorders can provide information on health resources and support for individuals and families affected by these genetic changes.

It is important for individuals with a family history of glaucoma or other related disorders to consider genetic testing for MYOC gene mutations. This testing can provide valuable information for early diagnosis and treatment.

Other Names for This Gene

The MYOC gene is also known by the following names:

  • GLC1A (GeneID: 4653)
  • GLCC (GeneID: 4653)
  • JOAG (GeneID: 4653)
  • MYOCILIN (GeneID: 4653)
  • TIGR (GeneID: 4653)

These names may be found in scientific literature, databases, and other resources that provide information on genetic diseases and conditions related to the MYOC gene. Testing for genetic changes in the MYOC gene may be listed in genetic databases and registries as a primary response to glaucoma and other related conditions. Early-onset open-angle glaucoma is associated with changes in the MYOC gene, and testing for genetic variants in this gene can be done through various tests, including DNA sequencing and glucocorticoid response testing.

For more information on the MYOC gene and related conditions, consult the primary references listed in PubMed and OMIM. These resources provide scientific articles and catalog various genetic diseases and conditions associated with this gene. Additional information can be found in the open-access catalog of the National Institutes of Health’s genetic testing registry (ClinVar).

Additional Information Resources

Here are some additional resources for more information on MYOC gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find detailed information on the MYOC gene, related diseases, and genetic changes associated with glaucoma on the OMIM website.
  • PubMed: PubMed is a database of scientific articles on various health and medical topics. You can search for articles related to the MYOC gene, glaucoma, and other related disorders on PubMed.
  • ClinVar: ClinVar is a public resource that provides information about the clinical significance of genetic variants. You can find information on MYOC gene variants and their association with glaucoma on the ClinVar website.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central catalog of genetic tests. You can search for genetic tests related to MYOC gene and glaucoma on the GTR website.

These resources can provide you with more in-depth information on the MYOC gene, glaucoma, and related disorders. It is important to consult primary references and scientific articles for the most up-to-date and accurate information.

Tests Listed in the Genetic Testing Registry

Glaucoma is a condition that affects the optic nerve in the eye, leading to vision loss. This condition can be caused by mutations in the MYOC gene. The MYOC gene provides instructions for making a protein called myocilin, which is involved in the regulation of intraocular pressure.

Early-onset primary open-angle glaucoma (POAG) is one of the conditions associated with the MYOC gene. Mutations in this gene can lead to an increase in intraocular pressure, resulting in damage to the optic nerve and vision loss.

See also  PLP1 gene

The Genetic Testing Registry is an open database that provides information about genetic tests and their related conditions. It catalogs the scientific names, references, articles, and additional information for genetic tests related to specific genes and disorders.

Within the Genetic Testing Registry, there are tests listed for the MYOC gene related to glaucoma and other conditions. These tests involve the analysis of genetic changes within the MYOC gene to determine the risk of developing glaucoma or other related conditions.

Some of the tests listed in the Genetic Testing Registry for the MYOC gene include:

  • Genetic testing for primary open-angle glaucoma (POAG)
  • Genetic testing for early-onset glaucoma
  • Genetic testing for MYOC gene mutations

These tests analyze the DNA sequence of the MYOC gene to identify any genetic changes or mutations that may be associated with glaucoma or related conditions.

In addition to the Genetic Testing Registry, there are other genetic databases and resources available for information on the MYOC gene and glaucoma. Some of these resources include OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD).

These resources provide further information on the MYOC gene, glaucoma, and other related genetic disorders. They also offer references to scientific articles and studies that explore the relationship between these genes and diseases.

Overall, the Genetic Testing Registry and other genetic databases can provide valuable information on the tests available for the MYOC gene and its association with glaucoma and other conditions. These resources can help individuals and healthcare professionals access the necessary information to make informed decisions about genetic testing and their overall genetic health.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles on various health-related topics, including genetic disorders. This database is a valuable resource for researchers and healthcare professionals seeking information on the MYOC gene, glaucoma, and other related diseases.

The MYOC gene, also known as myocilin, is associated with primary open-angle glaucoma, early-onset glaucoma, and other glaucoma-related disorders. Genetic testing for variants in this gene can provide important information for the diagnosis and management of these conditions.

PubMed contains numerous scientific articles on the MYOC gene and its role in glaucoma. Open-angle glaucoma is the primary focus of many of these articles, as it is the most common form of glaucoma in which the drainage angle of the eye is open. These articles discuss the genetic changes within this gene and its protein, myocilin, that may contribute to the development of primary open-angle glaucoma.

In addition to glaucoma, studies have explored the involvement of the MYOC gene in other diseases and health conditions. Some articles discuss the potential association between MYOC gene mutations and glucocorticoid-induced ocular hypertension, a rise in intraocular pressure caused by the use of glucocorticoid medications.

The PubMed database also provides access to scientific articles on genes related to MYOC. These articles may discuss other genes that interact with MYOC and play a role in the development and progression of glaucoma and other related diseases. Such articles further enhance our understanding of the genetic basis of these conditions.

It is important to note that while PubMed is a valuable resource, it is always recommended to consult multiple sources and cross-reference the information found. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides additional information on the MYOC gene and related disorders.

In conclusion, PubMed is a comprehensive database for scientific articles on the MYOC gene, glaucoma, and related diseases. Researchers and healthcare professionals can find valuable information on genetic changes within the MYOC gene, its role in glaucoma and other conditions, and other genes that may interact with MYOC. It is a valuable resource for staying up-to-date with the latest research in this field.

  • Glaucoma is a complex disease with a strong genetic component.
  • MYOC gene plays a crucial role in the development and progression of primary open-angle glaucoma.
  • PubMed provides a wealth of scientific articles on the MYOC gene and its association with glaucoma and related disorders.
  • Genetic testing for variants in MYOC can provide important information for the diagnosis and management of glaucoma.
  • Other genes related to MYOC may also contribute to the development of glaucoma and other related diseases.
  • Consulting multiple sources, such as OMIM, is recommended to obtain comprehensive information on the MYOC gene and related disorders.

Catalog of Genes and Diseases from OMIM

The Myoc gene, also known as myocilin, is a primary genetic cause of open-angle glaucoma. Open-angle glaucoma is a condition characterized by increased intraocular pressure due to inadequate drainage of fluid from the eye.

See also  NGLY1 gene

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic disorders that provides information on the genetic basis of human diseases. It includes genes associated with various diseases, including those involved in primary open-angle glaucoma.

The Myoc gene is listed in OMIM and is associated with early-onset primary open-angle glaucoma. The gene encodes a protein called myocilin, which is involved in the regulation of intraocular pressure.

OMIM provides a comprehensive catalog of genes, genetic variants, and associated diseases. It includes information on the clinical features, testing methods, and response to glucocorticoid therapy for different genetic disorders.

In addition to OMIM, there are other resources available for genetic testing and information on genes and related diseases. These include databases such as PubMed, which provides scientific articles and references on genetic disorders and the changes in genes associated with these conditions.

OMIM and other genetic databases serve as valuable resources for clinicians, researchers, and people seeking information on genetic disorders. They help in the diagnosis, management, and genetic counseling of individuals with various genetic conditions.

  • Comprehensive catalog of genes and genetic disorders
  • Information on clinical features and testing methods
  • References to scientific articles and publications
  • Registry of genetic variants and their associations with diseases
  • Open-access and freely available for use
Key features of OMIM:

Overall, OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a wealth of information on genes, genetic variants, and associated diseases, helping in the understanding and management of various genetic conditions, including primary open-angle glaucoma associated with the Myoc gene.

Gene and Variant Databases

There are several genetic databases that provide information about the MYOC gene and its variants. These databases serve as valuable resources for researchers and healthcare professionals working in the field of genetic testing and related conditions.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on genes, genetic variants, and the associated phenotypes. It includes a specific section for MYOC gene-related disorders, such as primary open-angle glaucoma.
  • The Human Gene Mutation Database (HGMD): HGMD is a curated database that collects and organizes information on germline mutations in human genes. It includes data on MYOC gene mutations associated with early-onset open-angle glaucoma.
  • GeneTests: GeneTests is a publicly funded medical genetics information resource that provides access to information about genetic testing laboratories, available tests, and related diseases. MYOC genetic testing is available through some of the listed laboratories within GeneTests.
  • PubMed: PubMed is a database of scientific articles in the field of biomedical literature. It includes research papers, reviews, and references related to the MYOC gene and its variants. Researchers can find additional information on MYOC mutations and their association with various conditions.
  • Myocilin Variants Registry: This registry is a dedicated database that collects and collates information on MYOC gene variants observed in people with glaucoma. It serves as a resource for researchers and clinicians studying the genetic basis of glaucoma.

These databases provide a wealth of information on the MYOC gene, its protein product, and the associated genetic variants. Researchers and healthcare professionals can utilize these resources to stay updated on the latest scientific findings, discover new gene-disease associations, and improve patient care.

References

  • Open-angle glaucoma:
    • Myocilin gene (MYOC) variant and primary open-angle glaucoma. Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2021 [cited 2021 Mar 23]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/345918/overview/
    • Myocilin. OMIM – Online Mendelian Inheritance in Man [Internet]. Baltimore (MD): Johns Hopkins University; 2021 [cited 2021 Mar 23]. Available from: https://www.ncbi.nlm.nih.gov/omim/601652
    • Myocilin gene (MYOC) variant and primary open-angle glaucoma. Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2021 [cited 2021 Mar 23]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/345918/overview/
  • Related disorders and diseases:
    • Myocilin. Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2021 [cited 2021 Mar 23]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/4653/
    • Myocilin. Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2021 [cited 2021 Mar 23]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/4653/
  • Other resources:
    • Myocilin gene (MYOC) variant and primary open-angle glaucoma. Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2021 [cited 2021 Mar 23]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/345918/overview/
    • Myocilin gene (MYOC) variant and primary open-angle glaucoma. Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2021 [cited 2021 Mar 23]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/345918/overview/