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The SLC19A3 gene, also known as solute carrier family 19 member 3, is a gene that is involved in the transport of biotin and thiamine across cell membranes. Mutations in this gene are associated with a rare genetic disorder called biotin-thiamine-responsive basal ganglia disease (BTBGD). This syndrome is characterized by neurological abnormalities, including movement disorders and cognitive impairment.

Information about the SLC19A3 gene can be found in various genetic databases, such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR). These resources provide additional clinical information, scientific articles, and testing resources related to this gene. PubMed, a database of scientific literature, reveals several articles discussing the genetic changes and disease associations of SLC19A3.

Testing for mutations in the SLC19A3 gene can be useful in diagnosing BTBGD and other related conditions. Genetic testing can help to confirm a diagnosis and guide treatment decisions for patients with this disorder. Additionally, understanding the functions and abnormalities of this gene can contribute to research and advancements in the field of genetic diseases.

Genetic changes in the SLC19A3 gene have been associated with several health conditions and disorders. These genetic changes can be detected through various tests and have been studied extensively in scientific research.

One of the most well-known health conditions related to genetic changes in the SLC19A3 gene is Leigh syndrome. Leigh syndrome is a rare genetic disorder that affects the central nervous system, specifically the basal ganglia. It is characterized by progressive loss of mental and movement abilities.

Genetic testing for SLC19A3 gene abnormalities can provide valuable information for individuals and families affected by this disorder. It can help confirm a diagnosis and provide guidance for managing the condition.

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Other genetic changes in the SLC19A3 gene have also been found to be related to other health conditions and disorders. These include biotin-thiamine-responsive basal ganglia disease, a rare neurological disorder that can cause movement problems and other symptoms.

To learn more about these health conditions and genetic changes in the SLC19A3 gene, there are several resources available. PubMed and OMIM databases contain scientific articles and references on these topics. The Genetic Testing Registry provides information on genetic tests available for these conditions. The Solute Carrier Family 19 Member 3 (SLC19A3) gene page on OMIM and other genetic resources can provide further information on the gene and its associated health conditions.

Resources for Health Conditions Related to Genetic Changes in the SLC19A3 gene:
PubMed – A database of scientific articles and references
OMIM – A database of genetic disorders and associated genes
Genetic Testing Registry – Information on genetic tests for various conditions

Biotin-thiamine-responsive basal ganglia disease

Biotin-thiamine-responsive basal ganglia disease, also known as biotin-thiamine-responsive basal ganglia disorders or biotin-responsive basal ganglia disease, is a solute carrier family 19 member 3 (SLC19A3) gene-related genetic disorder. It is a rare neurodegenerative disorder characterized by abnormal movement and neurological abnormalities.

This disease is listed in various genetic disorder catalogs and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The SLC19A3 gene is associated with the biotin-thiamine-responsive basal ganglia disease, and changes or variants in this gene can be detected through genetic testing.

Clinical testing for the biotin-thiamine-responsive basal ganglia disease may reveal specific changes in the SLC19A3 gene, which can confirm the diagnosis. Additional tests, such as imaging studies and clinical evaluations, are often performed to assess the extent of nervous system abnormalities.

Biotin-thiamine-responsive basal ganglia disease is related to other conditions such as Leigh syndrome, a mitochondrial disorder. This disease is part of the basal ganglia disorders, which are a group of neurological disorders affecting the basal ganglia, a region of the brain involved in movement control.

For healthcare professionals, resources and registries for biotin-thiamine-responsive basal ganglia disease are available to provide further information and support. Scientific references, relevant clinical guidelines, and information on related diseases can be found in these resources.

References:

Leigh syndrome

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a rare genetic disorder that affects the nervous system. It is caused by abnormalities in the SLC19A3 gene. This gene encodes a protein that is involved in the transport of thiamine into cells.

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Leigh syndrome is characterized by progressive changes in the central nervous system, leading to a variety of neurological symptoms. These symptoms may include developmental delay, loss of motor skills, poor muscle tone, seizures, and respiratory problems.

This disease has been the focus of scientific research, and studies have revealed additional genes and conditions that may be related to Leigh syndrome. Genetic testing is now available to diagnose this disorder, and databases such as PubMed and OMIM provide information on the genetic changes associated with Leigh syndrome.

Leigh syndrome is listed as a variant of mitochondrial disease in the Online Mendelian Inheritance in Man (OMIM) database. It is also included in the Genetic and Rare Diseases Information Center (GARD) and the Orphanet database.

Individuals with Leigh syndrome may have other genetic diseases as well, and testing for these conditions is often recommended. Some related conditions include basal ganglia disease and biotin-thiamine-responsive basal ganglia disease.

The Leigh syndrome registry is a resource for individuals and families affected by this disorder. It provides information on clinical trials, research studies, and support groups.

In conclusion, Leigh syndrome is a rare genetic disorder that affects the nervous system. Abnormalities in the SLC19A3 gene are responsible for this disease. Genetic testing and resources such as PubMed and OMIM can provide valuable information on this condition and related genetic diseases.

Other disorders

The SLC19A3 gene is associated with a variety of disorders beyond biotin-thiamine-responsive basal ganglia disease. Studies have revealed the involvement of this gene in several genetic diseases related to the nervous system.

One such disorder is Leigh syndrome, which is characterized by progressive neurological abnormalities. Changes in the SLC19A3 gene have been found to be responsible for the clinical manifestations observed in some individuals with Leigh syndrome.

In addition to Leigh syndrome, other disorders such as biotin-thiamine-responsive basal ganglia disease and additional neurological abnormalities have been linked to variants in the SLC19A3 gene. Variant testing for this gene can help identify individuals with these disorders.

The following list provides the names of some of the other disorders and abnormalities associated with the SLC19A3 gene:

  • Biotin-thiamine-responsive basal ganglia disease
  • Leigh syndrome

For more information on these disorders and other related conditions, resources such as OMIM and scientific articles can be consulted. Gene databases and PubMed are useful sources for finding references and information on genetic diseases.

In conclusion, the SLC19A3 gene is not only implicated in biotin-thiamine-responsive basal ganglia disease but also plays a role in other disorders and abnormalities related to the nervous system. Genetic testing and information from various resources can aid in the understanding and diagnosis of these clinical conditions.

Other Names for This Gene

  • SLC19A3 gene
  • ThTr2
  • SLC19A3 solute carrier family 19 member 3
  • Thiamin transporter 2
  • Thiamine transporter 2
  • ATR1

The SLC19A3 gene is sometimes called ThTr2 or SLC19A3 solute carrier family 19 member 3. It is also known as Thiamin transporter 2 or Thiamine transporter 2. Another name for this gene is ATR1.

Additional Information Resources

For additional genetic information on the SLC19A3 gene and related disorders, the following resources may be helpful:

  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the SLC19A3 gene and other related genes associated with various genetic disorders and conditions. It also includes information on the availability of testing and the clinical significance of genetic changes.

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genetic disorders and diseases. It includes information on the SLC19A3 gene and its associated conditions, as well as references to relevant scientific articles and clinical resources.

  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “SLC19A3 gene” or related keywords can provide you with additional scientific information on this gene and its role in various disorders.

  • Gene Reviews: Gene Reviews is a collection of expert-authored, peer-reviewed articles that provide in-depth information on specific genetic disorders. It includes a review on the SLC19A3 gene and the biotin-thiamine-responsive basal ganglia disease.

  • NIH Genetic and Rare Diseases Information Center: The NIH Genetic and Rare Diseases Information Center provides information on genetic disorders and conditions. Their website includes a dedicated page on SLC19A3-related disorders, which provides a summary of the gene, associated abnormalities, and testing resources.

  • Other Databases: Additional databases, such as ClinVar and Human Gene Mutation Database (HGMD), also contain information on genetic changes and their clinical significance related to the SLC19A3 gene.

Tests Listed in the Genetic Testing Registry

The SLC19A3 gene, also known as the solute carrier family 19 member 3 gene, is associated with various disorders and abnormalities. Genetic testing can provide valuable information about these conditions and help in the diagnosis and management of affected individuals.

See also  MYBPC3 gene

Testing for changes or variants in the SLC19A3 gene is commonly listed in the Genetic Testing Registry (GTR). This resource catalog of genetic tests provides a comprehensive list of available tests for different genes and disorders. The GTR contains information on clinical validity, clinical utility, and additional scientific references related to each test.

Genes listed in the GTR are often linked to specific conditions or disorders. In the case of SLC19A3 gene, it has been associated with the Leigh syndrome, a rare neurological disorder characterized by abnormalities in the basal ganglia and other parts of the nervous system. The GTR provides information on the clinical significance of variants in this gene for Leigh syndrome.

In addition to the GTR, there are other databases and resources available that provide information on genetic testing for SLC19A3 gene-related conditions. For example, the Online Mendelian Inheritance in Man (OMIM) database contains detailed information on genes, their associated disorders, and relevant scientific articles.

PubMed is another valuable resource for finding scientific publications related to SLC19A3 gene and its associated conditions. Searching for the gene name or related disorder names in PubMed reveals a wealth of scientific articles and studies that can provide further insights into the genetic basis and clinical manifestations of these conditions.

Genetic testing for SLC19A3 gene-related disorders can help in the early diagnosis and personalized management of affected individuals. It can provide important information about disease risks, inheritance patterns, and potential treatment options. By identifying specific genetic changes or variants in the SLC19A3 gene, healthcare professionals can make more informed decisions regarding patient care and provide appropriate counseling to affected individuals and their families.

It is important to note that genetic testing should be conducted by qualified healthcare professionals and in accordance with established guidelines and regulations. Genetic counselors can provide additional guidance and support throughout the testing process, helping individuals and families understand the implications of the test results and make informed decisions about their health.

In summary, genetic testing listed in the Genetic Testing Registry can provide valuable information about disorders and abnormalities associated with the SLC19A3 gene. This information can aid in the diagnosis and management of affected individuals, and facilitate further research on these conditions.

Scientific Articles on PubMed

The SLC19A3 gene, also known as the solute carrier family 19 member 3 gene, is associated with various abnormalities and diseases related to the nervous system. This gene has been researched extensively, and there are several scientific articles available on PubMed that provide valuable information about its function and role in health and disease.

PubMed is a renowned database that contains references to numerous scientific articles on various genes and diseases. Researchers and clinicians can access these articles to gather information about specific genes and their involvement in different health conditions. In the case of the SLC19A3 gene, PubMed lists several articles discussing its role in diseases like biotin-thiamine-responsive basal ganglia disorder and Leigh syndrome.

Testing the SLC19A3 gene is often included in the genetic testing panels for these conditions. Clinical genetic testing of this gene can reveal any variants or changes that may be related to the disorders. By analyzing the genetic information of the SLC19A3 gene, healthcare professionals can provide a more accurate diagnosis and develop personalized treatment plans for patients.

OMIM is another valuable resource that provides comprehensive information about genes and their associated disorders. On this platform, the SLC19A3 gene is also listed with its variant names and the diseases it is linked to. Researchers and healthcare professionals can access OMIM to gather additional information about this gene and the various conditions it is related to.

In addition to OMIM and PubMed, there are other databases and resources that researchers and clinicians can utilize to gather information about the SLC19A3 gene and related disorders. These resources include genetic disorder registries, scientific articles from other sources, and clinical testing laboratories.

Research on the SLC19A3 gene has revealed its importance in maintaining proper nervous system function. Abnormalities in this gene can lead to various neurological conditions and disorders. Understanding the role of this gene and its impact on health is essential for further research and the development of potential treatments.

Articles on PubMed
  • Evidence for a novel biochemical, genetic and clinical disorder: severe SLC19A3 mutations in patients with mitochondrial depletion syndrome.
  • Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.
  • Novel homozygous intronic mutation in SLC19A3 gene in biotin-thiamine-responsive basal ganglia disease.
  • SLC19A3 mutations are rare event in melanoma.
  • Psychiatric phenotype in biotin-responsive basal ganglia disease.

These articles, along with many others available on PubMed, provide valuable insights into the SLC19A3 gene and its association with various diseases and disorders. They contribute to the scientific community’s understanding of this gene and its impact on human health.

See also  MMAB gene

It is essential for researchers, clinicians, and genetic counselors to stay updated with the latest research and findings regarding the SLC19A3 gene. Regularly reviewing scientific articles and resources can help gather new information, identify potential treatment options, and improve patient care.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information on various conditions caused by genetic changes in different genes, including the SLC19A3 gene.

The catalog reveals that the SLC19A3 gene is associated with a condition called biotin-thiamine-responsive basal ganglia disease (BTBGD). This disorder affects the nervous system and can lead to abnormal movement, cognitive impairments, and other health abnormalities.

In addition to the information on BTBGD, OMIM lists other genetic disorders and conditions related to changes in the SLC19A3 gene. These include Leigh syndrome, which affects the basal ganglia and can cause developmental and cognitive problems.

OMIM provides scientific articles, references, and resources related to the SLC19A3 gene and the diseases it is associated with. These resources offer valuable clinical and genetic information for researchers, healthcare professionals, and individuals interested in understanding and diagnosing these conditions.

The catalog also includes information on genetic tests and registries for the SLC19A3 gene and associated disorders. This information can be helpful for individuals seeking testing or looking for support from patient communities and research organizations.

Overall, OMIM serves as a reliable and comprehensive resource for genetic information, providing a wealth of knowledge on various genes, diseases, and conditions.

Gene and Variant Databases

Gene and variant databases are resources that provide information about genes and genetic variants associated with various diseases and health conditions. These databases play a crucial role in scientific research, clinical testing, and the study of genetic disorders.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on gene functions, phenotypes, and clinical presentations of genetic diseases. Researchers, clinicians, and scientists often refer to OMIM for additional information on specific genes and diseases.

In addition to OMIM, there are several other databases that provide valuable information on genes and variants. For example, the NCBI Gene database, also known as GenBank, stores genetic sequence data and related information for a wide range of genes. The NCBI Gene database is a valuable resource for researchers studying genetic variations and their functional implications.

Another important resource is the Human Gene Mutation Database (HGMD), which lists known disease-causing mutations in human genes. HGMD is used by scientists and clinicians to identify genetic changes associated with specific disorders.

Furthermore, there are databases that specifically focus on certain genetic disorders. For example, the Leiden Open Variation Database (LOVD) provides information on gene variants associated with various disorders, including cardiovascular diseases, metabolic disorders, and cancer.

Gene and variant databases also play a crucial role in the study of neurodegenerative disorders. The Human Gene Connectome (HGC) database, for example, reveals the genetic basis of several neurodegenerative disorders, such as Leigh syndrome. The HGC database provides information on the genes involved in these disorders, as well as potential therapeutic targets.

These databases serve as valuable resources for researchers and clinicians interested in studying genetic diseases. They provide a centralized repository of scientific articles, clinical data, and genetic information, allowing researchers to access relevant information for their studies and clinical testing.

In conclusion, gene and variant databases are scientific resources that catalog and provide information on genes, genetic variants, and associated disorders. These databases are vital for scientific research, clinical testing, and the study of genetic diseases.

References

Here are some of the key references related to the SLC19A3 gene and its clinical implications:

  • The ClinicalTrials.gov registry, which provides information on ongoing clinical trials for various conditions including those related to the SLC19A3 gene.
  • The Online Mendelian Inheritance in Man (OMIM) database, which contains information on genetic disorders and their associated genes, including SLC19A3.
  • The PubMed database, which houses scientific articles and publications on SLC19A3 and related diseases.
  • The Catalog of Genes and Diseases (CGD), which catalogues genes associated with various medical conditions, including SLC19A3-related diseases.

Further resources for obtaining additional information on the SLC19A3 gene and related conditions include:

  • The Genetic Testing Registry (GTR), which provides information on genetic tests for various conditions, including SLC19A3-related disorders.
  • The National Institutes of Health (NIH) website, which offers comprehensive information on genetic disorders and related health topics.
  • The Human Gene Mutation Database (HGMD), which contains information on genetic mutations associated with various diseases, including those related to SLC19A3.

These resources can provide valuable scientific information and references for further study and diagnosis of conditions related to the SLC19A3 gene.

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