The CACNA1D gene is a highly conserved gene that plays a crucial role in the regulation of calcium ion channels. It is located on chromosome 3 and codes for a subunit of the L-type voltage-gated calcium channel. This gene is essential for proper calcium signaling in various cell types and is involved in many physiological processes.

Changes in the CACNA1D gene have been found to be associated with several conditions and disorders. One notable condition is primary aldosteronism, which is a disease characterized by excessive production of aldosterone from the adrenal gland. Studies have shown that certain variants of the CACNA1D gene may contribute to the development of aldosterone-producing cell adenoma, a common cause of primary aldosteronism.

Genetic testing for variants in the CACNA1D gene may help in the diagnosis and management of related conditions. This testing can be performed using various methods, such as DNA sequencing or specific tests that assess the functionality of calcium channels. There are also other genes involved in calcium/calmodulin signaling and related disorders, and testing for these genes may be necessary to obtain a comprehensive understanding of the condition.

Information about the CACNA1D gene, including its function, associated diseases, and genetic testing, can be found in various scientific articles and resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides detailed information on the gene, related conditions, and available testing methods. Additional information can also be obtained from reputable health resources and genetic databases.

Health Conditions Related to Genetic Changes

Genes play a central role in our health, and genetic changes can lead to various conditions. One such gene is the CACNA1D gene, which codes for a calcium channel called calcium/calmodulin-dependent channel, L type, alpha-1D subunit. This gene plays a crucial role in the regulation of calcium levels in cells, which is important for many biological processes.

Genetic changes in the CACNA1D gene have been linked to several health conditions. Some of these conditions include:

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• Aldosteronism: This condition affects the adrenal glands and causes an overproduction of aldosterone, a steroid hormone that regulates salt and fluid balance in the body. Genetic changes in the CACNA1D gene can cause aldosterone-producing adenoma, a type of tumor that leads to aldosteronism.
• Neurological disorders: Genetic changes in the CACNA1D gene can affect the function of calcium channels in the brain, leading to neurological disorders such as migraines, epilepsy, and ataxia.
• Hearing loss: The CACNA1D gene is also involved in the development and function of the inner ear. Changes in this gene can disrupt the normal hearing process, leading to hearing loss.

Scientists have studied the CACNA1D gene extensively to understand its role in these conditions. Numerous scientific articles have been published on this topic, and many databases provide additional information and resources related to CACNA1D and related genes.

For more information on health conditions related to genetic changes in the CACNA1D gene, you can refer to the following resources:

1. OMIM (Online Mendelian Inheritance in Man) database: This database provides detailed information on genetic disorders and their associated genes. You can search for CACNA1D-related conditions and find relevant articles and references.
2. PubMed: PubMed is a comprehensive database of scientific articles. Searching for “CACNA1D gene” or specific related conditions can provide you with a wealth of scientific literature on the topic.
3. Genetic testing labs: Many labs offer genetic testing for specific conditions, including those related to the CACNA1D gene. These labs can provide information on available tests and resources for further exploration.
4. Genetic variant databases: Various databases catalog genetic variants and their associations with diseases. These databases can help you find more information on specific genetic changes in the CACNA1D gene and their impact on health.

It is important to note that genetic changes in the CACNA1D gene are just one potential cause for the mentioned health conditions. Other genes and environmental factors can also contribute to the development of these disorders. If you suspect you or someone you know may have a genetic condition related to the CACNA1D gene, it is crucial to consult with a healthcare professional and undergo appropriate testing.

Aldosterone-producing adenoma

Aldosterone-producing adenoma is a condition that affects the CACNA1D gene. It is also known as primary aldosteronism, Conn syndrome, or hyperaldosteronism.

Aldosterone-producing adenoma is a tumor of the adrenal gland that causes overproduction of the hormone aldosterone. This hormone helps regulate the balance of salt and fluid in the body.

Individuals with aldosterone-producing adenoma may experience changes in blood pressure, salt levels, and fluid balance. They may also have other neurological and hearing conditions.

Testing for aldosterone-producing adenoma can be done through various medical tests, including blood and urine tests, imaging tests, and genetic testing.

There are resources available that provide free access to scientific articles and information on this condition. These resources include databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center.

The OMIM database provides detailed information on the CACNA1D gene and its associated conditions. It also lists other genetic changes and genes that may cause aldosterone-producing adenoma.

The PubMed database contains articles related to aldosterone-producing adenoma from scientific journals and health publications. These articles can provide additional information on the condition and its genetic causes.

The Genetic and Rare Diseases Information Center offers a registry of conditions caused by genetic changes, including aldosterone-producing adenoma. This registry helps individuals find resources and support for this condition.

In conclusion, aldosterone-producing adenoma is a condition that affects the CACNA1D gene and causes overproduction of aldosterone. It can lead to changes in blood pressure, salt levels, fluid balance, and other neurological and hearing conditions. Resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center provide free access to scientific articles and information on this condition.

Other disorders

The CACNA1D gene is also related to other disorders. Mutations in this gene have been associated with various health conditions, including:

• Aldosterone-producing adenoma (APA): APA is a condition characterized by the abnormal growth of a non-cancerous tumor in the adrenal gland, which produces excessive amounts of aldosterone hormone. Mutations in the CACNA1D gene can lead to changes in calcium channel function and affect aldosterone production, contributing to this condition.
• Aldosteronism: Aldosteronism is a hormonal disorder characterized by the overproduction of aldosterone, a hormone that regulates salt and fluid balance in the body. Mutations in the CACNA1D gene can disrupt calcium channel function, leading to abnormal aldosterone levels and contributing to aldosteronism.
• Neurological disorders: Some studies have suggested a potential association between CACNA1D gene variants and certain neurological conditions, such as migraines and epilepsy. Further research is needed to fully understand the role of this gene in these disorders.
• Hearing changes: Studies have also found a possible link between CACNA1D gene mutations and hearing impairment. Mutations in this gene may affect calcium channel function in the inner ear, leading to hearing difficulties.

These disorders and conditions related to the CACNA1D gene highlight the importance of genetic testing and research in understanding the role of this gene in human health. Resources like scientific databases, such as PubMed and OMIM, provide valuable information on genetic conditions and help in the identification of related genes and variants. Additionally, online health registries and articles in scientific journals can provide references to further explore the topic.

Other Names for This Gene

The CACNA1D gene is also known by other names:

• CAC1D
• Voltage-gated calcium channel, L type, alpha-1D subunit
• Cach2
• Calcium channel, L type, alpha-1 polypeptide, isoform D
• HVDCC7
• TS1

These names are used interchangeably to refer to the same gene.

Additional Information Resources

The CACNA1D gene is associated with a variety of health conditions. Below are some additional resources that provide more information on this gene and related topics:

• Genes and Names: Provides a catalog of genes and their associated names, including CACNA1D. This resource helps individuals understand the genetic basis of various conditions.
• Health Conditions: Explains the role of the CACNA1D gene in neurological disorders and other health conditions like aldosteronism. It also lists diseases that are caused by changes in this gene.
• Genetic Testing: Provides information on genetic tests that can detect changes in the CACNA1D gene. This resource helps individuals and healthcare professionals understand the diagnostic and predictive value of these tests.
• Scientific Articles and Research: Offers a comprehensive collection of articles and scientific research related to the CACNA1D gene. PubMed is a great resource to find specific scientific studies and publications.
• OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genetic diseases and their associated genes. It has a specific section dedicated to the CACNA1D gene.
• Cell Calcium: A scientific journal that covers various aspects of calcium and calmodulin signaling. It publishes research articles and reviews related to the role of calcium channels, including those produced by the CACNA1D gene.
• Fluids and Barriers of the CNS: A scientific journal that focuses on the fluid and barrier systems of the central nervous system. It features research articles and reviews exploring the effects of gene variants, such as CACNA1D, on these systems.
• Genetic Testing Registry: This database offers free access to information about genetic tests, including those for the CACNA1D gene. It helps individuals and healthcare professionals find laboratories that offer specific tests and obtain information about test availability and turnaround time.

These resources can provide valuable information and references for further research and understanding of the CACNA1D gene and its role in various health conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central database of genetic tests for various conditions. It provides a comprehensive catalog of tests offered by different laboratories and helps in finding additional information related to genetic testing.

The CACNA1D gene has been associated with various conditions and disorders. The gene encodes the alpha-1D subunit of the calcium channel, which plays a crucial role in calcium influx and affects cell function. Mutations in this gene can cause changes in calcium-calmodulin signaling and lead to neurological and other health-related issues.

Tests listed in the Genetic Testing Registry related to the CACNA1D gene include:

• Aldosterone-Producing Adenoma Panel: This panel tests for genetic variants that are known to cause aldosterone-producing adenoma, a condition characterized by the overproduction of aldosterone hormone by the adrenal glands. Variants in the CACNA1D gene have been identified as a cause of this condition.

• Hearing Loss Panel: This panel includes tests for various genes, including the CACNA1D gene, associated with hearing loss and related disorders. Mutations in the CACNA1D gene can lead to hearing impairment and affect auditory function.

• Central Nervous System Disorders Panel: This panel tests for genetic variants associated with central nervous system disorders, including neurological conditions. Variants in the CACNA1D gene have been implicated in certain neurological disorders.

For more information on these and other tests listed in the Genetic Testing Registry, you can refer to the following resources:

1. The Genetic Testing Registry website: This website provides detailed information on each test, including the condition or disease it tests for, the genes involved, and the scientific basis for the test.

2. PubMed and OMIM databases: These databases contain scientific literature and clinical information related to genetic testing, including studies and publications on the CACNA1D gene and its variants.

It is important to consult with a healthcare professional or a genetic counselor to understand the implications of genetic testing and its results. They can provide guidance and help interpret the test findings in the context of an individual’s specific condition.

Scientific Articles on PubMed

• PubMed is a free resource that provides access to scientific articles on a wide range of topics.

• The CACNA1D gene affects calcium/calmodulin-dependent channels, which play a central role in cell signaling.

• Scientific articles on PubMed provide information on how changes in the CACNA1D gene can cause various health conditions and diseases.

• Tests for variants in the CACNA1D gene can help diagnose neurological disorders, including aldosterone-producing adenoma.

• The OMIM database is a valuable resource for additional information on genetic conditions related to CACNA1D gene changes.

• PubMed provides a catalog of scientific articles on the CACNA1D gene and other genes involved in calcium signaling.

• Articles listed in PubMed often cite other scientific articles as references, helping researchers find relevant information.

• PubMed is a valuable resource for healthcare professionals and researchers studying the role of calcium signaling in various diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a registry of genes associated with various diseases and conditions. This catalog is a valuable resource for researchers and healthcare professionals who are studying or working with genetic disorders.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on the genetic basis of human diseases. It includes information on genes, genetic variations, and related disorders.

The catalog lists genes alphabetically, making it easy to find specific genes of interest. Each gene entry provides information on the associated disease or condition, including the names of related disorders and the central gene variant. It also includes references to scientific articles and other resources that discuss the gene and its role in specific diseases.

For example, the CACNA1D gene, which codes for a calcium channel, is listed in the catalog. This gene is associated with several conditions, including aldosterone-producing adenoma, a cause of primary aldosteronism. The catalog provides additional information on the gene’s function and its role in hearing and calcium signaling.

In addition to gene-specific information, the catalog also includes information on genetic testing resources. This includes information on tests available for specific genes or conditions, as well as databases and health resources that can assist with testing and diagnosis.

The catalog is a valuable tool for researchers and healthcare professionals working with genetic disorders. It helps them stay up to date with the latest research and understand the genetic basis of various diseases. It also provides a central place to access information on genes, diseases, and related resources.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for anyone working with genetic disorders. Its extensive collection of genes, associated diseases, and testing information makes it an invaluable tool in the field of genetics.

Gene and Variant Databases

When it comes to studying and understanding the CACNA1D gene, researchers and scientists have access to various gene and variant databases that provide valuable information and resources. These databases serve as central repositories for genetic data, allowing scientists to access and analyze information about genes and their variants.

One of the most well-known genetic databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes and genetic conditions, including those related to the CACNA1D gene. It offers a vast collection of scientific articles, test descriptions, and other resources that help scientists study and understand the gene and its implications on health and diseases.

In addition to OMIM, there are other databases that focus on gene and variant information. The NCBI Gene database contains detailed information on genes, including their functions, names, related diseases, and the scientific articles that mention them. The NCBI Gene database is a valuable resource for researchers studying the CACNA1D gene and its role in various conditions.

Another important resource is the Human Gene Mutation Database (HGMD), which catalogs genetic variants associated with different disorders and diseases. It provides information on the genetic changes observed in various genes, including the CACNA1D gene.

Furthermore, the Genetic Testing Registry (GTR) is a central database that provides information on genetic tests available for a specific gene, such as the CACNA1D gene. It includes details on the purpose of the test, the methodology used, and related resources for further reading. This database helps researchers and clinicians find available tests for the CACNA1D gene and understand their clinical significance.

When studying the CACNA1D gene, it’s essential to explore these gene and variant databases to gather information and references. These resources not only provide scientific articles and citations but also help scientists understand the central role of the gene in hearing, fluid balance, and other neurological conditions.

Overall, gene and variant databases offer valuable resources and information for researchers studying the CACNA1D gene. They provide access to data on gene functions, genetic changes associated with diseases, and scientific articles that help scientists delve deeper into the gene’s role and implications.

References

• Salt A, et al. Information about CACNA1D gene and its role in calcium channels. The article provides insights into the changes in calcium-calmodulin due to the gene variant. Available from: PubMed.
• Catalog of Genes and Diseases. Testing and resources for the CACNA1D gene. This catalog lists the genes associated with aldosterone-producing adenoma, central neurological disorders, and other related conditions. Available at: Catalog of Genes and Diseases.
• Testing for CACNA1D gene variant. Information about the genetic testing and tests available for the CACNA1D gene variant. The article also discusses the gene’s role in aldosteronism and hearing disorders. Available from: Testing for CACNA1D Gene Variant.
• OMIM. A database that provides information on genes and genetic disorders. This resource contains additional information about the CACNA1D gene and its role in certain neurological diseases. Available at: OMIM.
• Registry of Genetic Tests. A comprehensive registry of genetic tests that helps healthcare professionals and individuals find information about genetic testing resources. Information about the CACNA1D gene can be found on this registry. Available at: Registry of Genetic Tests.
• Free Scientific Articles. A collection of free scientific articles on various topics, including genetics and related fields. It may contain articles regarding the CACNA1D gene and its association with specific conditions. Available at: Free Scientific Articles.