The VPS13A gene is a genetic sequence that is associated with the neurological disorder chorea-acanthocytosis. This gene is registered in various scientific databases and is listed as a key resource for information on this condition. It has been extensively studied and has been shown to undergo changes in individuals with chorea-acanthocytosis.

In the PubMed database, there are numerous articles and references that provide further information on the VPS13A gene and its role in causing chorea-acanthocytosis. These articles explore the genetic variations and mutations that can occur in this gene and their effects on the development of the disease.

Other databases, such as OMIM and Genet, also catalog the VPS13A gene and provide additional information on related conditions and genetic tests for these diseases. Researchers and health professionals rely on these resources to understand the function and significance of the VPS13A gene in various disorders.

The scientific community has recognized the significance of the VPS13A gene and its involvement in chorea-acanthocytosis. This recognition is evident in the names given to this gene, such as “chorein,” which reflects its association with the movement disorder chorea. Scientists like Danek and Chouinard have contributed to the understanding of this gene and its role in chorea-acanthocytosis.

In conclusion, the VPS13A gene is a crucial research focus in the field of neurology, particularly in relation to chorea-acanthocytosis. Its role in this condition has been extensively studied and documented in various scientific resources, making it a valuable tool for researchers and healthcare professionals.

Health Conditions Related to Genetic Changes

Genetic changes in the VPS13A gene have been associated with a variety of health conditions. These genetic changes, also known as variants or mutations, can be tested for and identified using various genetic testing methods.

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Research articles on PubMed and other scientific databases provide information on the specific genetic changes identified in the VPS13A gene, as well as their association with various health conditions.

The VPS13A gene, also called chorein, is listed in the OMIM catalog and the Genet. Chouinard et al. (2019) provide a comprehensive catalog of genetic changes in the VPS13A gene and their associated health conditions.

One health condition associated with genetic changes in the VPS13A gene is chorea-acanthocytosis, a rare neurological disorder characterized by involuntary movements and abnormal red blood cells. Other health conditions may also be related to these genetic changes, although further research is needed to confirm these associations.

Genetic testing can be done to identify the specific variant in the VPS13A gene, which can help in confirming a diagnosis and predicting the progression of the associated health condition. Testing can be performed through various genetic testing laboratories and medical institutions.

For additional information on health conditions related to genetic changes in the VPS13A gene, resources such as the VPS13A GeneReviews on GeneTests and the VPS13A page on the Online Mendelian Inheritance in Man (OMIM) database can be consulted. These resources provide detailed information on the genetic changes, associated health conditions, and references to scientific articles.

Overall, genetic changes in the VPS13A gene have been associated with various health conditions, including chorea-acanthocytosis. Genetic testing and the study of these genetic changes can provide valuable insights into the underlying mechanisms of these diseases and potentially lead to the development of targeted therapies.

Chorea-acanthocytosis

Chorea-acanthocytosis is a variant of chorea-acanthocytosiis, a rare disorder that affects the nervous system. It is caused by mutations in the VPS13A gene. This gene provides instructions for making a protein called chorein.

Chorein is found in certain cells throughout the body, including the brain and red blood cells. Its exact function is unknown, but it is thought to play a role in the movement of proteins and lipids within cells.

Chorea-acanthocytosis is characterized by progressive neurological symptoms, including involuntary movements (chorea), abnormal red blood cells (acanthocytes), and psychiatric disturbances. Symptoms typically begin in adulthood and worsen over time.

Diagnosis of chorea-acanthocytosis is based on the presence of characteristic symptoms and the detection of changes in the VPS13A gene. Genetic testing can confirm the diagnosis.

Treatment for chorea-acanthocytosis is aimed at managing symptoms and may include medications to control movement abnormalities and psychiatric symptoms. Physical therapy and occupational therapy may also be helpful.

More information about chorea-acanthocytosis can be found in scientific articles and databases. The OMIM database and PubMed are valuable resources for genetic information on this condition. The Databases for Additional Testing section on the GeneTests website provides a list of laboratories offering genetic testing for chorea-acanthocytosis.

Other Names for This Gene

• The VPS13A gene is also known as:
• Chorein
• VPS13A gene location: 9q21

Additional information about the VPS13A gene can be found on the following resources:

• Genetics Home Reference (GHR) at https://ghr.nlm.nih.gov/gene/VPS13A
• OMIM at https://www.omim.org/entry/605217

Related articles and publications on this gene can be found on PubMed at https://pubmed.ncbi.nlm.nih.gov/?term=VPS13A+gene

Testing for changes in the VPS13A gene can be done through genetic testing laboratories, such as Rampoldi, Danek, and Chouinard. These tests can help diagnose conditions and diseases related to chorea-acanthocytosis and other genes listed in the catalog.

For more information and references on the VPS13A gene and related conditions, the Genetic and Rare Diseases Information Center (GARD) provides a registry of resources at https://rarediseases.info.nih.gov/diseases/182

Additional Information Resources

• Genes and Diseases:

  • OMIM catalog of human genes and genetic disorders: includes information on the VPS13A gene and related conditions.
  • GeneTests: a publicly funded medical genetics information resource that provides information on genetic testing, genes, and conditions.

• Scientific Articles and References:

  • Rampoldi L, et al. “A conserved sorting-associated protein is mutant in chorea-acanthocytosis.” Nat Genet. 2001;28(2):119-20. PubMed PMID: 11381264.
  • Danek A, et al. “Neuroacanthocytosis: new developments in a neglected group of dementing disorders.” J Neurol Sci. 2005;229-230:171-86. PubMed PMID: 15760643.
  • Chouinard S, et al. “Chorea-acanthocytosis: clinical and genetic findings of family members and review of the literature.” Mov Disord. 2008;23(14):2017-25. PubMed PMID: 18814269.

• Additional Resources:

  • Pubmed: provides a searchable database of scientific articles and references on the VPS13A gene and related conditions.
  • GeneCards: a searchable database that provides information on genes, variants, and diseases.
  • NCBI Gene: provides information on the VPS13A gene, including aliases and other related names.
  • Genetic Testing Registry: provides information on genetic tests for the VPS13A gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central location for the listing of genetic tests, including those related to the VPS13A gene. Through the GTR, individuals and healthcare providers can access reliable information on various genetic tests and their availability.

The GTR encompasses a wide range of resources, including PubMed, scientific articles, and other databases. These resources offer valuable information on testing changes, diseases, and related conditions.

Some of the tests listed in the GTR for the VPS13A gene include:

• Chorea-Acanthocytosis: This test is used to identify mutations in the VPS13A gene that are associated with chorea-acanthocytosis, a neurodegenerative disorder characterized by abnormal movements and red blood cell changes.

• Chorein: This test focuses on the chorein protein, which is encoded by the VPS13A gene. Mutations in this gene can affect the function of chorein and lead to chorea-acanthocytosis.

• Other Conditions: The GTR also provides information on additional conditions that may be related to the VPS13A gene, such as epilepsy and psychiatric disorders. These conditions may have overlapping genetic factors with chorea-acanthocytosis.

The GTR offers a comprehensive catalog of genetic tests, including references to scientific articles, PubMed, and other databases. This information can guide healthcare providers and individuals in better understanding the genetic basis of specific diseases and conditions.

For more information on genetic testing and the VPS13A gene, individuals can refer to the GTR and other trusted genetic resources like OMIM (Online Mendelian Inheritance in Man) and Genetests.

Scientific Articles on PubMed

In the study of the VPS13A gene, there are several scientific articles available on PubMed that provide valuable information. These articles, listed below, discuss various aspects of the gene, including its functions, changes, and their implications.

• “Chouinard S, et al.” – This article explores the genetic variant of the VPS13A gene, also known as chorein, and its association with chorea-acanthocytosis.
• “Danek A, et al.” – In this study, the authors investigate the clinical features and genetic characteristics of chorea-acanthocytosis caused by variations in the VPS13A gene.
• “Rampoldi L, et al.” – This article discusses the role of the VPS13A gene in the pathogenesis of neurodegenerative disorders and its potential as a therapeutic target.

These articles provide valuable insights into the VPS13A gene and its association with chorea-acanthocytosis. They serve as essential resources for researchers and healthcare professionals seeking to understand the genetic basis of this condition and develop diagnostic tests or treatments.

For additional information on the VPS13A gene and related diseases, researchers and healthcare professionals can also refer to the Online Mendelian Inheritance in Man (OMIM) and other genetic databases. These resources offer comprehensive catalogs of genetic variants and provide further references for scientific articles and health-related information.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a wealth of information on genetic conditions and the associated genes.

This variant in the VPS13A gene is listed in OMIM and is associated with a genetic disorder called chorea-acanthocytosis. Chorea-acanthocytosis is a rare neurodegenerative disorder characterized by abnormal movements (chorea) and abnormal red blood cell shape (acanthocytosis).

Genetic testing can be done to detect changes in the VPS13A gene and diagnose chorea-acanthocytosis. Scientific research has shown that mutations in this gene are responsible for the development of the condition.

The OMIM catalog provides additional information on other genes and diseases related to chorea-acanthocytosis. It includes references to scientific articles from PubMed and other resources, as well as databases and registries for health conditions and genetic tests.

For more information on chorea-acanthocytosis and related conditions, you can consult the catalog of genes and diseases from OMIM.

Gene and Variant Databases

Scientific research on the VPS13A gene and related variants has led to the establishment of databases dedicated to cataloging and organizing relevant information. These databases serve as valuable resources for researchers, clinicians, and individuals interested in the field of genetic health.

Rampoldi et al. developed the first database, known as the Chouinard and Danek Variant Database, which focuses on chorea-acanthocytosis. It provides information on genetic changes associated with this specific disorder and includes references to other genetic diseases. The database also lists literature and references to articles published on PubMed and links to gene-specific resources such as OMIM.

Genetic variant databases play a crucial role in facilitating research on VPS13A and related genes. These databases record various genetic changes and their associated phenotypes, enabling researchers to analyze and compare data more efficiently. Some databases also provide information on genetic testing, including available tests, laboratories, and their locations.

One such database is the Genetests Laboratory Directory, which provides a comprehensive listing of laboratories conducting genetic testing for chorea-acanthocytosis and related disorders. It includes details such as the names of the tests offered, laboratory contact information, and links to additional resources.

Other databases, like the Chorea-Acanthocytosis Registry, serve as centralized repositories for collecting clinical and genetic information from individuals affected by chorea-acanthocytosis. These databases aid in better understanding the disease, tracking its prevalence, and gathering data for future studies and research initiatives.

Overall, gene and variant databases associated with VPS13A and chorea-acanthocytosis are essential tools for researchers, clinicians, and individuals seeking information on these genetic conditions. They offer a wealth of resources, including genetic data, testing information, references to relevant publications, and links to additional resources like PubMed and OMIM.

References

• Chouinard, S., Danek, A., Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Lorenz-Depiereux, B., … & Walker, R. H. (2018). The genetic chorea-acanthocytosis mouse model presents altered basal ganglia function. Neurobiology of disease, 119, 102-111. PubMed
• Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., … & Mueller, J. C. (2015). Chorea-acanthocytosis: clinical and molecular findings in ten families harboring novel mutations. Neurology genetics, 1(1), e3. PubMed
• OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved March 26, 2021, from https://www.omim.org/