The OPA3 gene is a scientific term used to refer to the gene that is responsible for the development of certain conditions such as optic atrophy type 3 and cataracts. These conditions are autosomal dominant, which means that only one copy of the gene is needed for the conditions to occur.

Scientists have discovered that mutations in the OPA3 gene can lead to dysfunction in the optic nerve cells, resulting in reduced vision or even blindness. The OPA3 gene has been listed in various genetic databases and resources, such as OMIM and PubMed, with references to articles and clinical tests related to these conditions.

Testing for changes in the OPA3 gene can be done through genetic testing, and it can provide valuable information about an individual’s health and risk of developing certain diseases. In addition to optic atrophy and cataracts, the OPA3 gene has also been found to be related to other mitochondrial and optic nerve-related conditions.

Scientists and researchers have written numerous articles and studies on the OPA3 gene, and the information from these resources can be found in scientific catalogs and databases. The OPA3 gene is an important gene to study in order to further understand the development of optic atrophy and cataracts, and to develop better diagnostic tests and treatments for these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the OPA3 gene have been associated with several health conditions. These changes can affect the optic nerve and lead to optic atrophy, a condition characterized by the degeneration of the optic nerve cells. This can result in reduced vision or even blindness.

Additional health conditions related to genetic changes in the OPA3 gene include hearing loss and cataracts. In some cases, these conditions may occur in combination with optic atrophy.

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Other genes may also be involved in these health conditions. For example, mutations in other genes can cause autosomal dominant optic atrophy, a type of optic atrophy that is inherited in an autosomal dominant pattern.

Clinical testing and genetic testing can help diagnose these health conditions. Tests can identify changes in the OPA3 gene or other genes associated with these conditions. The results of these tests can provide important information for medical management and treatment.

Resources for Health Conditions Related to Genetic Changes

There are several resources available for information on health conditions related to genetic changes, including:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genes and genetic conditions, including OPA3-related health conditions.
• PubMed: A scientific database that contains articles and scientific publications on various health conditions, including those related to OPA3.
• GeneReviews: Written by experts in the field, GeneReviews provides detailed clinical information on genetic conditions, including OPA3-related health conditions.
• The Human Gene Mutation Database (HGMD): A database that catalogs genetic variants and their association with human diseases, including OPA3-related conditions.
• The Genetic Testing Registry (GTR): A database that provides information on genetic tests, including those for OPA3-related health conditions.
• The Costeff Optic Atrophy Syndrome Registry: A registry that collects clinical and genetic information on individuals with Costeff optic atrophy syndrome, a condition related to OPA3 gene mutations.

These resources can help healthcare professionals, researchers, and individuals affected by these conditions to access the most up-to-date information available. It is important to consult with healthcare professionals and genetic counselors for comprehensive evaluation, diagnosis, and management of these conditions.

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and cataract is a genetic condition characterized by the presence of both optic atrophy and cataracts. This condition is written as “OPA3 gene-related autosomal dominant optic atrophy and cataract” in some scientific articles and databases.

Optic atrophy is a condition where the optic nerve that connects the eye to the brain becomes dysfunctional. This can result in central vision loss and reduced visual acuity. Cataracts, on the other hand, are clouding of the lens in the eye, leading to blurred vision and reduced color perception.

The OPA3 gene is one of the genes associated with this condition. Changes or variants in this gene can lead to the development of autosomal dominant optic atrophy and cataract. Other genes may also be involved in the development of these conditions.

Resources such as OMIM and PubMed provide information on genetic testing, clinical articles, and additional resources related to this condition. These resources can make it easier for healthcare professionals to diagnose and manage autosomal dominant optic atrophy and cataract.

Testing for autosomal dominant optic atrophy and cataract may include genetic testing to identify changes or variants in the OPA3 gene or other genes related to this condition. Clinical examination and medical history may also be necessary to make a diagnosis.

Individuals with autosomal dominant optic atrophy and cataract should seek medical attention for proper diagnosis and management of their condition. This may include regular screening for other related conditions, such as hearing loss or mitochondrial disorders.

In conclusion, autosomal dominant optic atrophy and cataract is a genetic condition characterized by the presence of both optic atrophy and cataracts. The OPA3 gene, along with other genes, may be involved in the development of these conditions. Genetic testing and information from resources such as OMIM and PubMed can be useful in diagnosing and managing this condition.

Costeff syndrome

Costeff syndrome, also known as optic atrophy and neuropathy, is a rare genetic disorder that affects the nervous system and optic nerve. It is caused by mutations in the OPA3 gene.

The OPA3 gene is located on chromosome 19 and is responsible for producing a protein involved in the maintenance of mitochondria, which are the cell’s energy-producing structures. Mutations in the OPA3 gene result in dysfunction of the mitochondria, leading to optic atrophy and other neurological symptoms.

Costeff syndrome is inherited in an autosomal recessive manner, which means that both copies of the OPA3 gene must be mutated for the condition to develop.

Clinical features of Costeff syndrome usually manifest in childhood and may include optic atrophy, reduced visual acuity, hearing loss, cataracts, and neurological abnormalities. The severity and specific symptoms can vary between individuals.

Diagnosis of Costeff syndrome can be confirmed through genetic testing to identify mutations in the OPA3 gene. Additional tests, such as clinical examination, imaging studies, and cognitive assessments, may also be performed to evaluate the extent of optic atrophy and other neurological changes.

Treatment for Costeff syndrome primarily focuses on managing the symptoms and supporting overall health. This may include wearing corrective lenses for vision problems, hearing aids for hearing loss, and additional interventions as needed.

For more information about Costeff syndrome and related diseases, the following resources may be helpful:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic conditions and associated genes. The entry for Costeff syndrome (OMIM Entry #258501) provides detailed information about the syndrome and relevant gene.
• PubMed: PubMed is a scientific database that contains articles and references on various medical topics. Searching for “Costeff syndrome” or “OPA3 gene” on PubMed can provide additional scientific literature on the syndrome.
• GeneReviews: GeneReviews is a resource that provides up-to-date, expert-authored information about genetic diseases. The entry for Costeff syndrome provides a summary of the condition, information on genetic testing, and resources for further reading.
• Orphanet: Orphanet is a European database of rare diseases and related information. The Orphanet entry for Costeff syndrome contains a detailed description of the condition, including symptoms, diagnostics, and resources for patients and healthcare professionals.

Overall, Costeff syndrome is a rare autosomal recessive disorder characterized by optic atrophy and neurological symptoms. Genetic testing and consultation with a healthcare professional are essential for accurate diagnosis and management of the condition.

Other Names for This Gene

• OPA3 gene
• 3-methylglutaconic aciduria type 3
• 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
• optic atrophy 3
• optic atrophy 3 (autosomal recessive)
• optic atrophy and cataract 3
• optical atrophy
• [MGA3]
• [3-MGA-uria]
• [atrophie optique autosomique 3]
• [optic atrophy 3]
• [3-methylglutaconic aciduria type III]
• [Optic atrophy type 3]

Additional Information Resources

For additional information on the OPA3 gene and related conditions, the following resources may be helpful:

• PubMed – A database of scientific articles with information on the OPA3 gene, optic atrophy, and related diseases. Search for specific keywords to find relevant articles.
• OMIM – An online catalog of genetic diseases and associated genes, including OPA3. The entry for OPA3 provides detailed information on the gene and its related syndromes.
• GeneTests – A comprehensive source of information on genetic testing for a variety of conditions. GeneTests provides a list of labs that offer testing for OPA3 and other genes associated with optic atrophy.
• Clinical Trials Registry – A database of ongoing clinical trials for various diseases, including those related to OPA3. This resource can provide information on clinical trials that are currently recruiting patients.
• Health-related Websites – Some health-related websites may have written articles or fact sheets on OPA3 and its associated conditions. These websites can provide accessible information for patients and their families.

It is important to note that changes in the OPA3 gene are not the only cause of optic atrophy and related conditions. Other genes may also be involved, and additional testing may be necessary to determine the underlying cause for an individual. Genetic testing can be arranged through a healthcare provider or genetic counselor.

References to scientific articles and other sources are cited to provide further reading and understanding:

• Costeff Syndrome – GeneReviews – A scientific reference written for healthcare professionals that provides a detailed review of Costeff Syndrome, a mitochondrial DNA depletion syndrome characterized by optic atrophy and other symptoms.
• Dysfunctional mitochondrial OPA3 expression leads to RP-lik – PubMed – A scientific article investigating the role of OPA3 gene mutations in central retinal dysfunction in patients with optic atrophy.
• Genetics Home Reference – OPA3 – Genetic and Rare Diseases Information Center – A fact sheet on OPA3 and optic atrophy, from the National Institutes of Health.

These resources can help to obtain a deeper understanding of the OPA3 gene, associated conditions, and available information and support for those affected.

Tests Listed in the Genetic Testing Registry

The OPA3 gene is associated with autosomal dominant optic atrophy type 3, a syndrome characterized by progressive optic nerve cell death.

Tests listed in the Genetic Testing Registry for the OPA3 gene include:

• OPA3-Related Optic Atrophy Test

This test detects changes in the OPA3 gene that can cause optic atrophy. Optic atrophy is a condition characterized by the degeneration of the optic nerve, which can lead to vision loss and other health changes. The OPA3 gene is also associated with some related conditions, such as cataracts.

Additional tests listed in the Genetic Testing Registry for genes related to optic atrophy include:

• OPA1-Related Optic Atrophy Test
• OPA4-Related Optic Atrophy Test

These tests detect changes in other genes that can cause optic atrophy. They may be used to help diagnose and differentiate between different types of optic atrophy.

Cost-effective genetic testing for autosomal dominant optic atrophy and other related diseases can be found in the Genetic Testing Registry. This resource provides information on available tests, their costs, and other important details.

Information on clinical trials and scientific articles related to optic atrophy and other genetic conditions can be found in databases such as PubMed. These resources provide additional information on the genetics, symptoms, and management of optic atrophy.

References and further resources:

• OMIM: OPA3 Gene
• PubMed: OPA3 Gene
• Clinical Genomic Database: OPA3 Gene

These resources provide comprehensive information on the OPA3 gene, its associated conditions, and available testing options.

Scientific Articles on PubMed

In the field of health, there have been numerous scientific articles published on PubMed regarding the OPA3 gene. These articles provide valuable information and insights into various aspects of this gene, including its role in mitochondrial diseases, cataracts, optic atrophy, and other related conditions.

Some of the articles focus on genetic testing and its importance in identifying OPA3 gene changes in individuals with mitochondrial diseases. These tests can help diagnose conditions such as autosomal dominant optic atrophy, reduce the risk of death-related to these conditions, and provide additional information for clinical management.

Cataracts, another condition associated with OPA3 gene dysfunction, have also been extensively studied. Researchers have investigated the genetic variants that contribute to cataract development and have identified specific OPA3 gene changes in some patients. These findings can potentially lead to improved diagnostic tests and targeted therapies for cataract patients.

Furthermore, the OPA3 gene’s involvement in optic atrophy has been explored in several scientific articles. Optic atrophy is a condition characterized by the death of nerve cells in the optic nerve, leading to reduced central vision and other visual impairments. Understanding the genetic mechanisms behind optic atrophy can aid in the development of new treatments and interventions.

In addition to these specific conditions, scientific articles on PubMed also discuss the OPA3 gene’s role in hearing loss, other optic neuropathies, and various mitochondrial disorders. These comprehensive resources provide clinicians, researchers, and individuals affected by OPA3 gene-related conditions with important insights and references to further their understanding and research.

Catalog of Genes and Diseases from OMIM

The OPA3 gene is listed in the OMIM catalog alongside other genes associated with various diseases. OMIM, or Online Mendelian Inheritance in Man, is a central repository of curated genetic information. It provides a comprehensive list of genetic conditions, linking them to specific genes and variants.

OMIM catalogs genes and diseases from scientific articles, clinical resources, and other databases. It offers information on autosomal dominant and autosomal recessive conditions, as well as X-linked and mitochondrial diseases. For each gene and disease, OMIM provides references to scientific articles and clinical resources for further reading.

For example, the OPA3 gene is associated with Costeff syndrome, a genetic condition characterized by optic nerve atrophy, reduced mitochondrial function, cataracts, and hearing loss. The OMIM entry for the OPA3 gene includes a detailed description of the gene, its functions, and the specific changes or variants that have been linked to the disease.

In addition to the OPA3 gene, the OMIM catalog includes information on many other genes and diseases. Some of these diseases may have similar symptoms or be related to OPA3-related conditions. OMIM provides a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic conditions.

Access to the OMIM catalog can be obtained through the OMIM website, which provides additional resources and tools for genetic testing and research. The catalog is regularly updated with new information and findings from scientific studies.

Overall, the OMIM catalog serves as a comprehensive and reliable source of information on genes and diseases, including those related to the OPA3 gene. It offers a centralized repository of scientific and clinical knowledge, making it an essential resource for anyone interested in genetic health.

References:

1. Online Mendelian Inheritance in Man. [OMIM]
2. Costeff Syndrome. Genetics Home Reference.
3. OPA3 gene. Genetics Home Reference.
4. OPA3 gene: MedlinePlus Genetics.
5. OPA3 gene: PubMed.

Gene and Variant Databases

Gene and variant databases are valuable resources that make it easier for scientists and researchers to access information about specific genes and genetic conditions. These databases contain a wealth of information about various genes and their associated variants, providing a comprehensive understanding of their functions and implications in human health.

One such gene that is extensively studied and cataloged in these databases is the OPA3 gene. Mutations in this gene have been linked to the development of Optic Atrophy Type 3 (OPA3), a rare autosomal recessive disorder characterized by reduced optic nerve function, hearing loss, and other neurological symptoms.

The Online Mendelian Inheritance in Man (OMIM) database is a widely used resource to gather information on genetic diseases. It includes a vast collection of clinical descriptions, genetic testing information, and additional references for genes and their associated diseases, including OPA3 gene-related disorders.

The Human Gene Mutation Database (HGMD) is another valuable database that compiles genetic variants from scientific articles and other related sources. It includes information on various genes, including the OPA3 gene, and provides detailed clinical and functional descriptions of the identified variants.

Additionally, the Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests available for different genes and diseases. For OPA3 gene-related conditions, this registry lists the tests for optic atrophy and cataracts, among others.

Scientific articles and publications in PubMed also serve as important resources for gathering information on the OPA3 gene and its associated disorders. PubMed is a widely used database where researchers can access scholarly articles and references related to genetics and other scientific fields.

Overall, gene and variant databases play a crucial role in disseminating information about the OPA3 gene and other genes associated with optic atrophy and related disorders. They provide a consolidated source of information and help researchers and clinicians in understanding the molecular basis of these diseases and developing effective diagnostic and therapeutic strategies.

References

The following references provide additional information on the OPA3 gene and related diseases:

• OMIM: Online Mendelian Inheritance in Man. A catalog of human genes and genetic disorders. The OPA3 gene is listed in OMIM under entry number 606580.
• PubMed: A database of scientific articles. PubMed contains numerous articles written on the OPA3 gene and related conditions.
• OPA3 Gene Testing: Information on genetic testing for the OPA3 gene can be found in various genetic testing laboratories and clinics.
• Clinical Resources: Several clinical resources provide information on optic atrophy and other related conditions caused by OPA3 gene changes.
• Catalog of Genes and Genetic Diseases: This catalog contains information on genes and genetic diseases, including those related to OPA3.
• Autosomal Dominant Optic Atrophy (ADOA) Registry: A registry specifically dedicated to collecting information on individuals with ADOA, which is caused by OPA3 gene mutations.
• Additional Resources: Other resources such as health databases, scientific databases, and articles provide further information on OPA3 gene and related conditions.