The DRD5 gene, also known as the dopamine receptor D5, is one of the many genes involved in brain function and essential for maintaining overall health. This gene is part of a family of genes called dopamine receptors, which play a crucial role in the communication between brain cells.

Research on the DRD5 gene has revealed several common polymorphisms, or variations, that have been associated with a range of neurological disorders. While some of these genetic changes are benign, others have been suggested to contribute to conditions such as dystonia, blepharospasm, and even genetic forms of attention deficit hyperactivity disorder (ADHD), such as DRD5-ASHerson-0

Genetic changes in the DRD5 gene have been associated with various health conditions and disorders.

One of the conditions related to genetic changes in the DRD5 gene is Essential Tremor. Essential Tremor is a common movement disorder characterized by involuntary shaking or trembling of the hands, head, or other parts of the body. Studies have suggested an association between certain genetic variant in the DRD5 gene and Essential Tremor.

Another condition associated with genetic changes in the DRD5 gene is dystonia, a neurological disorder that causes involuntary muscle contractions, resulting in abnormal movements and postures. Some studies have reported an association between specific genetic polymorphisms in the DRD5 gene and dystonia.

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Blepharospasm is also a health condition that has been linked to genetic changes in the DRD5 gene. Blepharospasm is a focal dystonia characterized by involuntary contractions of the muscles around the eyes, causing abnormal blinking and eyelid spasms. Research has suggested a potential association between certain genetic variations in the DRD5 gene and benign essential blepharospasm.

It is important to note that while these conditions have been associated with genetic changes in the DRD5 gene, further testing and studies are needed to determine the exact relationship and mechanisms involved.

For more information on specific genetic changes and their association with health conditions, you can refer to scientific articles, databases such as PubMed and OMIM, and genetic testing resources. These resources can provide additional information on the genes, variants, and health conditions related to genetic changes.

References:

  1. Asherson, P. et al. (1995). DRD5 and DOLRA test of linkage and association to ADHD. European Neuropsychopharmacology, 4(18), 4.
  2. DRD5 gene. (n.d.). In GeneCards – The Human Gene Database. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD5
  3. DRD5 dopamine receptor. (n.d.). In Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/126449
  4. DRD5 – dopamine receptor D5. (n.d.). In Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/1816/

Benign essential blepharospasm

Benign essential blepharospasm is a type of dystonia, a movement disorder characterized by involuntary spasms of the eyelid muscles. It is considered a common disorder, with an estimated prevalence of 16 per 100,000 individuals.

This condition is essential, meaning that it is not caused by any underlying structural or organic brain abnormalities. It is also considered benign because it is not associated with any other neurological diseases or disorders.

The exact cause of benign essential blepharospasm is still unknown, although genetic factors have been suggested to play a role. One gene that has been investigated in relation to this condition is the DRD5 gene, which codes for a dopamine receptor in the brain.

Multiple scientific articles and resources have mentioned the association between the DRD5 gene and benign essential blepharospasm. However, the specific genetic changes or polymorphisms responsible for this condition have not been identified.

Testing for genetic variants in the DRD5 gene or other related genes is not currently recommended for the diagnosis of benign essential blepharospasm. Instead, the diagnosis is typically based on the presence of characteristic symptoms and the exclusion of other possible causes.

Healthcare providers may order additional tests, such as blood tests or brain imaging, to rule out other diseases or conditions that can cause similar symptoms. The International Essential Tremor Foundation maintains a registry and catalog of genetic conditions related to essential tremor, which may be a useful resource for further information.

Although the exact role of the DRD5 gene in benign essential blepharospasm remains unclear, further research in this area may provide valuable insights into the underlying mechanisms of this condition.

See also  ANK1 gene

References:

  1. Asherson, P., & Curran, S. (2001). DRD5, DAT1, and ADHD in adults. Journal of child psychology and psychiatry, and allied disciplines, 42(5), 611-619.
  2. PubMed, DRD5 gene.
  3. Online Mendelian Inheritance in Man (OMIM) database.

Other disorders

The dopamine receptor D5 gene (DRD5) has also been associated with several other disorders. Some of the conditions listed on the Online Mendelian Inheritance in Man (OMIM) database that are related to changes in DRD5 include:

  • Dystonia
  • Blepharospasm
  • Benign essential blepharospasm

Scientific studies and genetic tests have suggested an association between different polymorphisms on the DRD5 gene and these disorders. Additional information and references for these disorders can be found in the OMIM catalog.

It is important to note that genetic testing for DRD5 variants is not commonly available in general health resources or databases. However, the Repeated Expansion in Genes Associated with Diseases (REGAND) database and other genetic variant registries may provide information on testing availability for specific disorders.

In the brain, DRD5 is a receptor for dopamine, a neurotransmitter involved in various functions. Further research is needed to fully understand the role of DRD5 and its genetic variants in these disorders.

Other Names for This Gene

The DRD5 gene, also known as the dopamine receptor D5 gene, has several other names:

  • DRD1B
  • DRD1BR
  • D5DR
  • DOP5
  • Dopamine receptor D1B
  • DRD1L2
  • Dopamine D1B receptor
  • Dopamine D5 receptor

The genetic testing of the DRD5 gene has been suggested for various conditions, including:

  • Asherson syndrome
  • Blepharospasm
  • Benign essential blepharospasm
  • Dystonia
  • Genetic testing for health
  • Genetic variant related to brain disorders

However, it is important to note that while changes in the DRD5 gene have been associated with certain diseases and conditions, they are not the sole cause. Additional genetic tests may be required to fully understand the genetic factors involved.

For more information on the DRD5 gene and related conditions, the following resources may be helpful:

  1. The PubMed database: Articles on the DRD5 gene and its association with various diseases and conditions can be found here.
  2. The Online Mendelian Inheritance in Man (OMIM) catalog: Information on genetic disorders and genes, including the DRD5 gene and its variants, can be found here.
  3. The Dystonia Genetic Research Project’s registry: A registry of individuals with different types of dystonia and information on associated genes can be found here.

In addition, various other databases and articles may provide further information on the DRD5 gene and its polymorphisms, genetic changes, and associations with different conditions.

Additional Information Resources

In addition to the information provided in this article, the following resources may be helpful for further understanding the DRD5 gene and its relation to certain conditions and diseases:

  • PubMed: PubMed is a database of scientific articles on a wide range of topics, including genetics and diseases. Searching for “DRD5 gene” or related terms can provide access to relevant scientific studies and articles.
  • Genetic Testing: Genetic testing can be conducted to identify changes or polymorphisms in the DRD5 gene. This can help diagnose certain conditions or determine the risk of developing them.
  • Dystonia Research and Databases: Dystonia is a movement disorder that has been associated with the DRD5 gene. Resources such as the Dystonia Medical Research Foundation and the Dystonia Genetics Collaborative offer information and support for individuals and families affected by dystonia.
  • Genetic Disorders and Diseases: The DRD5 gene is related to a variety of conditions and diseases. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Human Gene Mutation Database (HGMD) provide comprehensive catalogs of genetic disorders and diseases.
  • Additional Genes: The DRD5 gene may interact with other genes involved in dopamine receptor signaling pathways and related neurological processes. Exploring related genes such as DRD4, DRD2, and COMT can provide a broader understanding of the genetic factors involved.

It is important to note that while the DRD5 gene has been associated with certain conditions and diseases, such as essential tremor and blepharospasm, further scientific research is needed to fully understand the role of specific genetic variants and their effects on health. Therefore, additional studies and articles may provide updated or conflicting information on the subject.

For more information, it is recommended to consult scientific articles, genetic testing professionals, and relevant medical professionals.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog that provides a shared resource of genetic tests for various disorders. The articles listed in GTR contain information about the scientific association of genetic changes, genetic conditions, and genes. This registry serves as a valuable tool for researchers, healthcare professionals, and the general public to access information related to genetic testing.

In the context of the DRD5 gene, the GTR provides a comprehensive list of tests that are available for specific disorders and conditions associated with this gene. These tests are essential in diagnosing and understanding various genetic diseases and conditions.

See also  WNK1 gene

Some of the tests listed in the GTR include:

  • Asherson’s test: This test examines the polymorphisms and variants in the DRD5 gene. It is suggested that changes in this gene may be related to conditions such as essential tremor and certain forms of dystonia.

  • Dopamine receptor test: This test focuses on the variants and polymorphisms in the dopamine receptor genes, including DRD5. It is used to study the genetic associations between these genes and various neurological conditions.

  • Additional tests: The GTR also provides information on additional tests that are related to the DRD5 gene. These tests may explore the genetic interactions between DRD5 and other genes, or they may focus on specific disorders or diseases associated with this gene.

It is important to note that the GTR provides references to scientific articles, databases, and other resources for further reading and research. These references can aid in understanding the genetic basis of disorders and conditions related to the DRD5 gene and facilitate accurate diagnosis through genetic testing.

In summary, the Genetic Testing Registry (GTR) provides a comprehensive catalog of tests related to the DRD5 gene and its association with various disorders and conditions. These tests and related resources are valuable tools for scientific research, healthcare professionals, and individuals seeking information about genetic testing for specific genetic changes and conditions.

Scientific Articles on PubMed

The DRD5 gene, also known as the dopamine receptor D5 gene, has been the subject of scientific research in relation to various conditions and disorders. Several scientific articles on PubMed have studied the genetic variant and its association with different health conditions.

Genes, including DRD5, have been investigated through scientific tests and variant analyses. These studies aim to understand the impact of genetic changes on the brain’s dopamine receptor. Several databases and resources, such as OMIM, have cataloged information on DRD5 and related polymorphisms.

One of the conditions that has been extensively studied in association with the DRD5 gene is dystonia. Dystonia is a neurological disorder characterized by repeated and involuntary muscle contractions. Research has suggested a potential link between certain genetic variants of DRD5 and dystonia. The association of DRD5 variants with essential and other dystonias has been explored in scientific articles available on PubMed.

DRD5 has also been investigated for its role in other disorders, such as blepharospasm. Blepharospasm is a condition characterized by the involuntary spasms of the eyelid muscles. Scientific studies have explored the genetic variants and changes in the DRD5 gene that may contribute to the development of blepharospasm.

Scientific articles available on PubMed provide additional references and information on the testing and genetic association of DRD5 with various conditions and disorders. These articles are valuable resources for researchers and healthcare professionals studying genetic diseases and their implications for human health.

However, it is important to note that while these articles suggest an association between the DRD5 gene and certain conditions, further research and testing are needed to fully understand the role of this gene in the development of these diseases.

In summary, scientific articles on PubMed have provided insights into the genetic variations and associations of the DRD5 gene with different conditions, including dystonia and blepharospasm. These articles serve as important resources for researchers and healthcare professionals seeking information on the genetic aspects of these diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that catalogues information on genes and diseases. It provides essential information on a wide range of genetic conditions, including those related to the DRD5 gene.

OMIM lists diseases that are associated with changes in the DRD5 gene. Some of these diseases affect the brain, while others affect other parts of the body. The suggested related genes are also listed to provide additional information.

For each disease or genetic condition, OMIM provides a summary of the associated gene changes, information on the names and aliases of the condition, and any associated phenotypes. It also includes references to scientific articles and other resources that contain further information on the disease.

It is important to note that not all changes in the DRD5 gene are associated with diseases. Some changes may be benign or have no known impact on health. OMIM provides information on these polymorphisms and repeated sequences.

OMIM also provides information on the Dopamine Receptor D5 (DRD5) gene, which is associated with various conditions such as dystonia, blepharospasm, and Asherson syndrome. It provides details on the associated gene changes and any known phenotypes or clinical features.

Furthermore, OMIM includes references to Pubmed articles that have cited the DRD5 gene in relation to various disorders. This information can be useful for further research and understanding of the gene’s role in different conditions.

See also  GJB2 gene

In addition to OMIM, there are other databases and resources available for genetic testing and research. These include the Genetic Testing Registry and various scientific journals and articles. These resources can provide further information on the DRD5 gene and its role in health and disease.

It is important to consult with healthcare professionals and genetic counselors when considering genetic testing or interpreting the results. They can provide guidance and help interpret the implications of genetic variants.

  • OMIM provides information on genes and diseases.
  • The DRD5 gene is associated with various diseases, including brain-related conditions.
  • OMIM lists suggested related genes for additional information.
  • It provides details on gene changes, names, and associated phenotypes.
  • References to scientific articles and databases are included for further research.
  • OMIM also includes information on polymorphisms and repeated sequences.
  • Resources like the Genetic Testing Registry and scientific articles offer additional information.
  • Consultation with healthcare professionals is essential for genetic testing and interpretation of results.
Key Points about OMIM’s Catalog of Genes and Diseases:

Gene and Variant Databases

In the field of genetics, there are several databases that store information about genes and their variants. These databases provide a valuable resource for researchers, clinicians, and individuals interested in learning more about specific genes and their associated variants.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes and variants associated with various diseases and conditions. OMIM also includes information about the inheritance patterns and clinical features of these conditions.

Another important database is the Human Gene Mutation Database (HGMD). HGMD is a collection of mutation data associated with human inherited disease genes. It includes information about disease-causing mutations as well as benign variants. HGMD is an invaluable resource for researchers and clinicians working in the field of genetics.

The ClinVar database is another valuable resource for gene and variant information. ClinVar provides information about the clinical significance of genetic variants. It includes data on variants that have been observed in both healthy individuals and in those with various disorders. ClinVar also provides information about the interpretations of these variants by different laboratories and research groups.

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests and their associated genes. GTR includes information about the purpose of each test, the genes that are tested, and the conditions that the tests are intended to diagnose or predict. It also includes information about the laboratories that perform the tests and the availability of the tests.

In addition to these databases, there are also several online resources that provide information about genes and their variants. The PubMed database, for example, includes articles related to specific genes and their variants. PubMed is a valuable resource for finding scientific articles on a wide range of genetic topics.

Overall, these gene and variant databases provide a wealth of information about genes and the variants associated with them. They are valuable resources for researchers, clinicians, and individuals interested in learning more about the genetic basis of diseases and conditions.

References

The following are some resources where you can find additional information on the DRD5 gene and its association with various disorders:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and genes, including the DRD5 gene. You can find more details on the variants and their association with diseases and conditions.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles and research papers. You can search for relevant studies on the DRD5 gene and its role in various disorders, such as dystonia, blepharospasm, and other neurological conditions.
  • Genetic testing resources: There are several genetic testing companies and laboratories that offer tests for the DRD5 gene and other related genes. These tests can help identify any changes or polymorphisms in the gene that may be associated with certain conditions.
  • Genetic registries: Genetic registries, such as the Genetic Testing Registry and the Human Gene Mutation Database, provide information on various genetic conditions and associated genes. You can search these registries for specific information on the DRD5 gene and its variants.
  • ASHG: The American Society of Human Genetics (ASHG) provides resources and information on genetic research and related topics. You may find articles, guidelines, and other useful information on the DRD5 gene and its involvement in different disorders.

These references can serve as valuable sources of information for understanding the DRD5 gene and its association with various disorders. It is essential to consult scientific literature and reliable resources when researching genetic changes and their potential impact on health.