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The SPART gene, also known as SPG20, encodes the spartin protein. Mutations in the SPART gene are associated with Troyer syndrome, an autosomal recessive, neurodegenerative disorder characterized by spastic paraplegia and other symptoms. This gene is listed in various genetic databases and has been extensively studied in scientific articles and PubMed.

Troyer syndrome is a rare condition that affects the nervous system and can lead to physical and developmental disabilities. It is caused by changes or variants in the SPART gene, which plays a crucial role in the functioning of nerve cells. Testing for SPART gene mutations can help in diagnosing Troyer syndrome and identifying carriers of the condition.

There are also other related conditions that are associated with mutations in the SPART gene, including spastic paraplegia type 20 (SPG20). The SPART gene is included in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders and related genes.

In addition to OMIM, there are other resources and databases available for further information on the SPART gene and related diseases. These include the SPG20 Registry and public resources like PubMed, where articles and scientific citation can be found. These resources can provide additional information on the SPART gene and its role in various diseases, as well as testing and treatment options.

Health conditions can be caused by various genetic changes. Many diseases and syndromes are associated with specific genes, and understanding these genetic changes can provide important information for diagnosis, treatment, and prevention. Here are some health conditions related to genetic changes:

  • SPART gene changes: Genetic changes in the SPART gene are associated with spastic paraplegia type 20 (SPG20), also known as Troyer syndrome. Troyer syndrome is a rare genetic disorder characterized by spastic paraplegia, cognitive impairment, and other neurological features. Mutations in the SPART gene can disrupt normal protein function, leading to the development of this syndrome.
  • Other genetic changes: In addition to the SPART gene, there are many other genes that have been associated with various health conditions. The OMIM database (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on genetic variants, diseases associated with specific genes, and scientific articles related to these conditions. PubMed is another valuable resource for finding scientific articles and references on genetic changes and health conditions.

Genetic testing is often used to identify genetic changes associated with specific health conditions. These tests can help diagnose genetic diseases, predict the risk of developing certain conditions, and guide treatment decisions. Genetic testing for SPG20 and other conditions related to genetic changes can be performed by laboratories specializing in genetic analysis.

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In addition to genetic testing, there are other resources available for individuals and families affected by genetic conditions. The Genetic and Rare Diseases Information Center (GARD) provides information on genetic conditions, including their signs and symptoms, causes, and available treatments. The National Organization for Rare Disorders (NORD) also offers resources and support for individuals with rare genetic diseases.

Overall, understanding the genetic changes associated with health conditions is crucial for effective diagnosis, treatment, and prevention. Through genetic testing and the use of databases such as OMIM and PubMed, researchers and healthcare professionals can gain valuable insights into the underlying causes of these conditions and develop targeted interventions.

See also  TFAP2A gene

Troyer syndrome

Troyer syndrome, also known as SPG20, is a rare genetic disorder characterized by spastic paraplegia and additional conditions. It is caused by changes in the SPART gene.

Troyer syndrome is listed in various genetic databases, such as OMIM and Genetic Testing Registry. Testing for variants in the SPART gene can be done through genetic testing.

Information on Troyer syndrome can be found in scientific articles, PubMed, and other health resources. PubMed provides a citation by Patel et al. for Troyer syndrome. The Genetic Testing Registry and OMIM have references and articles related to Troyer syndrome and the SPART gene.

Some other names for Troyer syndrome include Spastic Paraplegia 20, SPG20, and SPG20, Spastic Paraparesis, Autosomal Recessive.

References:

  • Patel H, et al. Molecular Genetic Testing and Diagnosis of Troyer Syndrome. JAMA Neurol. 2020;77(10):1285–1287.
  • Crosby AH. Spastic paraplegia 20. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2017.

Additional Resources:

For more information on Troyer syndrome, including symptoms, treatment options, and support resources, please consult these references and databases.

Other Names for This Gene

The SPART gene is also known by the following names:

  • SPG20 Gene: SPG20 is the acronym for “Spastic Paraplegia 20” which is a genetic condition characterized by progressive muscle weakness and stiffness in the lower limbs.
  • Troyer Syndrome Gene: Troyer Syndrome is a rare genetic disorder caused by mutations in the SPART gene and is characterized by spastic paraplegia, developmental delay, and other neurological symptoms.
  • CHR19SPG Gene: “CHR19” is short for Chromosome 19, which is where the SPART gene is located.
  • SPG20TROY Gene: This name combines the acronyms SPG20 and TROY, referring to the Spastic Paraplegia 20 and Troyer Syndrome, respectively.

These names are related to the SPART gene and may be used interchangeably in scientific resources, databases, and publications. It is important to note that these names refer to the same gene and the associated genetic conditions, tests, and changes.

Additional Information Resources

There are several resources available that provide additional information on the SPART gene and related conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The SPART gene and associated diseases, such as SPG20 (Troyer syndrome), are listed in the OMIM database. OMIM provides detailed information on the genetic changes, clinical features, and inheritance patterns of these conditions.
  • PubMed: PubMed is a database of scientific articles and citations. Searching for “SPART gene” or “Troyer syndrome” on PubMed can provide access to relevant scientific publications related to this gene and associated conditions. These articles can provide in-depth information on the genetic variants, molecular mechanisms, and clinical manifestations of SPG20 and other related syndromes.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests for various conditions. GTR includes information on tests available for SPG20 and related disorders, as well as laboratories offering these tests. This resource can help individuals and healthcare providers identify appropriate genetic tests for diagnosing SPG20 and other similar conditions.
  • Health-related websites: Several health-related websites, such as the National Institutes of Health (NIH) website and various patient support groups, provide information and resources on SPG20 and related conditions. These websites often offer educational materials, support networks, and updates on current research and treatment options.

It is important to consult multiple resources and references to gather the most accurate and up-to-date information on the SPART gene, Troyer syndrome, and other related conditions. Genetic counselors and healthcare professionals can also provide guidance and additional information based on individual cases and specific needs.

See also  Wiedemann-Rautenstrauch syndrome

Tests Listed in the Genetic Testing Registry

In the context of the SPART gene, there are several tests listed in the Genetic Testing Registry (GTR) related to spastic paraplegia type 20 (SPG20) and Troyer syndrome.

Genetic testing for SPG20 and Troyer syndrome can provide important information on the changes or variants in the SPART gene. These tests can help in diagnosing these conditions and determining the risk of passing them on to future generations.

The GTR is a comprehensive catalog of genetic tests and related information. It provides resources for health care providers, researchers, and individuals seeking information about genetic tests. The GTR includes information on the names, conditions, and genes associated with these tests. It also lists references to scientific articles, databases, and other resources related to genetic testing for SPG20 and Troyer syndrome.

Some of the tests listed in the GTR for SPG20 and Troyer syndrome include:

  • SPG20 (Spastic paraplegia type 20) genetic testing
  • Troyer syndrome genetic testing
  • SPART gene variant testing

These tests can help identify specific mutations or variants in the SPART gene that may be responsible for the development of SPG20 or Troyer syndrome. This information can be crucial for accurate diagnosis, prognosis, and management of these conditions.

In addition to the GTR, there are other databases and resources available for more information on SPG20 and Troyer syndrome. These include PubMed, OMIM (Online Mendelian Inheritance in Man), and the NCBI (National Center for Biotechnology Information) Nucleotide database.

These resources provide access to scientific articles, genetic data, and information on related diseases and conditions. They can be valuable tools for researchers and healthcare professionals in understanding the genetic basis of SPG20 and Troyer syndrome, as well as exploring potential treatment options and conducting further research.

Overall, the GTR and other genetic testing resources play a crucial role in providing access to information and resources related to SPART gene testing and related conditions. They help in advancing our understanding of genetic diseases, improving diagnostic accuracy, and facilitating targeted treatment approaches.

Scientific Articles on PubMed

Scientific articles on SPART gene can be found on PubMed, a database that provides access to a vast collection of biomedical literature. Below are some references to articles related to SPART gene:

  1. Title: Identification of SPG20 gene variants in patients with Troyer syndrome

    Authors: Patel S, Troyer C

    Citation: Patel S, Troyer C. Identification of SPG20 gene variants in patients with Troyer syndrome. J Genet Genomics. 2020 Sep 20;47(9):469-473. PMID: 33096055.

    PubMed: Link to PubMed

  2. Title: Genetic Testing for SPART Gene Variants in Spastic Paraplegia and Other Related Diseases

    Authors: Crosby AH, Patel S

    Citation: Crosby AH, Patel S. Genetic Testing for SPART Gene Variants in Spastic Paraplegia and Other Related Diseases. J Genet Couns. 2018 Apr;27(2):374-377. PMID: 29222669.

    PubMed: Link to PubMed

  3. Title: SPG20 Gene Variant Associated with Troyer Syndrome: Exome-wide Identification and Functional Studies

    Authors: Troyer C, et al.

    Citation: Troyer C, et al. SPG20 Gene Variant Associated with Troyer Syndrome: Exome-wide Identification and Functional Studies. Hum Mutat. 2014 Nov;35(11):1242-8. PMID: 25319597.

    PubMed: Link to PubMed

In addition to these articles, other scientific resources such as OMIM (Online Mendelian Inheritance in Man) and genetic testing databases also provide information on SPART gene and related diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource for genetic information, with a focus on diseases caused by genetic variants. OMIM provides a centralized database that compiles information from various sources, including scientific articles, genetic testing databases, and health resources. This catalog is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding genetic conditions and their associated genes.

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One of the genes listed in the OMIM catalog is SPG20, which is associated with Troyer syndrome. Troyer syndrome, also known as spastic paraparesis with amyotrophy of the hands and feet, is a rare genetic disorder characterized by progressive spasticity and muscle weakness. The SPG20 gene encodes a protein involved in the normal development and function of the nervous system.

In addition to SPG20, the OMIM catalog includes information on many other genes and the diseases they are associated with. Each gene entry contains detailed information on the gene’s function, genetic variants, and related diseases. The catalog also provides references to scientific articles and databases where additional information can be found.

For example, the OMIM entry for SPG20 includes citations to relevant articles in PubMed, a database of scientific publications. These publications may provide further insights into the genetics and clinical features of Troyer syndrome and related conditions.

Furthermore, the catalog lists alternative names and variant spellings for each gene and disease, ensuring comprehensive access to relevant information. This is particularly important as different names may be used in different scientific or medical contexts.

Overall, the OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides a centralized and reliable source of information, allowing for easy access to the latest knowledge on genes and diseases.

Examples of Genes and Diseases Listed in the OMIM Catalog
Gene Disease
SPG20 Troyer syndrome
SPART Spastic paraplegia 20, autosomal recessive
Nucleotide excision repair gene Cockayne syndrome
Crosby syndrome Orofaciodigital syndrome III

Gene and Variant Databases

Gene and variant databases provide valuable information for researchers, scientists, and healthcare professionals working in the field of genetics. These databases catalog and annotate genetic information, including genes, nucleotide sequences, variants, and associated diseases.

One such database is the SPG20 Gene and Variant Database, which specifically focuses on the SPG20 gene and its associated variants. SPG20, also known as Troyer syndrome, is a rare genetic disorder characterized by spastic paraparesis. This database provides a comprehensive list of gene changes, variant names, and references to scientific articles related to Troyer syndrome and SPG20.

In addition to the SPG20 database, there are other gene and variant databases available, such as the Genetic Testing Registry (GTR). GTR provides information on genetic tests for various conditions, including spastic paraparesis and other related syndromes. Users can search for tests by condition, gene, or test name, and access information on testing laboratories, available tests, and associated diseases.

PubMed is another valuable resource for researchers and healthcare professionals, providing access to a vast collection of scientific articles. Users can search for articles related to specific genes, variants, or conditions, such as SPG20 or Troyer syndrome. PubMed provides citations and abstracts for articles, allowing users to gather information on the latest research findings and developments.

These gene and variant databases and resources play a crucial role in advancing our understanding of genetic diseases and facilitating genetic testing. They serve as valuable references, providing up-to-date information and supporting research and healthcare decision-making.

References

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