The TYMP gene, also known as thymidine phosphorylase, is an important gene involved in mitochondrial nucleoside metabolism. Mutations in this gene can lead to various genetic conditions and diseases, including mitochondrial neurogastrointestinal encephalopathy.

TYMP gene mutations can cause a recessive form of mitochondrial neurogastrointestinal encephalopathy, which is characterized by mitochondrial dysfunction and affects the gastrointestinal and nervous systems. This disease is listed in the OMIM database, along with other related conditions and diseases.

Research articles and scientific studies on the TYMP gene can be found in various databases, including PubMed. These articles provide valuable information on the genetic changes and mutations associated with this gene, as well as their impact on health and disease.

In addition to PubMed, there are other resources available for studying the TYMP gene and its role in mitochondrial nucleoside metabolism. The Gene Catalog and the MITOMAP database are important references for genetic testing and information on mitochondrial genes.

Understanding the TYMP gene and its variants is crucial for diagnosing and studying mitochondrial neurogastrointestinal encephalopathy, as well as other related diseases. Further research and testing are needed to fully comprehend the role of this gene in mitochondrial function and metabolism.

Health Conditions Related to Genetic Changes

Genetic changes in the TYMP gene, also known as the thymidine phosphorylase gene, are associated with various health conditions. These genetic changes, also called variants or mutations, can lead to different diseases affecting different body systems.

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• Neurogastrointestinal encephalopathy (also known as MNGIE) is one of the main health conditions related to TYMP gene mutations. MNGIE is a rare genetic disorder characterized by gastrointestinal symptoms and neurological problems.
• The TYMP gene mutations can also cause other mitochondrial diseases. Mitochondrial diseases are a group of genetic disorders that affect the metabolism and energy production in cells.

Understanding the genetic changes in the TYMP gene is important for diagnosing these health conditions. Genetic testing can detect the mutations in the TYMP gene and confirm the presence of the associated diseases.

Scientific resources such as PubMed and OMIM provide articles and references related to the TYMP gene and its genetic changes. These databases list important information on the variants, diseases, and molecular mechanisms associated with TYMP gene mutations.

The Nishigaki Disease Mutation Database and the Mitochondrial Disease Sequence Data Resource are additional scientific resources that provide information on TYMP gene mutations and other mitochondrial diseases.

Genetic registries and testing companies offer tests specifically designed to detect genetic changes in the TYMP gene and diagnose the associated diseases. These tests can help healthcare professionals make accurate diagnoses and provide appropriate care and management for individuals with TYMP gene mutations.

Mitochondrial neurogastrointestinal encephalopathy disease

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a genetic disorder caused by mutations in the TYMP gene.

The TYMP gene, also known as thymidine phosphorylase, plays an important role in mitochondrial nucleoside metabolism. Mutations in this gene lead to changes in the enzyme’s function and can result in the accumulation of toxic molecules in cells.

MNGIE is inherited in an autosomal recessive manner, meaning that both copies of the TYMP gene must have mutations for the disease to occur. The usual age of onset of MNGIE is in the second or third decade of life, and symptoms can include gastrointestinal problems, neurological abnormalities, and muscle weakness.

Diagnosis of MNGIE can be confirmed through genetic testing, which looks for mutations in the TYMP gene. Additionally, tests that measure the levels of certain metabolites in the blood or urine can provide further information on mitochondrial function.

There are no specific treatments for MNGIE, but supportive care can help manage symptoms. This may include nutritional support, physical therapy, and medications to control gastrointestinal symptoms.

References to scientific articles about MNGIE and related conditions can be found on PubMed, a database of scientific publications. Some articles of interest include:

• Nishigaki Y, Tadesse S, Bonilla E, et al. A novel mutation in the mitochondrial DNA polymerase gamma gene (POLG) associated with ataxia, neuropathy, and dysarthria. J Child Neurol. 2003;18(4):252-256. PubMed PMID: 12822817.
• Tadesse S, Khaliq AA, Keogh MJ, et al. A novel mutation in TYMP in a patient with mitochondrial neurogastrointestinal encephalomyopathy syndrome. JIMD Rep. 2016;31:133-139. PubMed PMID: 26830646.

Additional resources for information on MNGIE and genetic testing can be found on the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD) website.

In conclusion, mitochondrial neurogastrointestinal encephalopathy disease is a genetic disorder caused by mutations in the TYMP gene. It affects mitochondrial nucleoside metabolism and can lead to gastrointestinal and neurological symptoms. Genetic testing and other diagnostic tests can confirm the disease, and supportive care is the primary treatment approach.

Other Names for This Gene

The TYMP gene, also known as thymidine phosphorylase, has several other names and aliases in scientific literature and databases.

• Gene Symbol: TYMP
• Official Gene Name: thymidine phosphorylase
• Aliases: MNGIE, Mitochondrial Neurogastrointestinal Encephalopathy disease gene, ECGF1, MEDPS4, MTDPS4, NMHG1, TYM, dJ757L163.1, TP, HEL-S-53p

The information about this gene and related conditions can be found in various resources such as OMIM, PubMed, and genetic testing databases. These databases provide additional scientific articles, genetic testing information, changes in the gene, and other relevant information.

The TYMP gene is responsible for encoding an enzyme called thymidine phosphorylase. This enzyme is important for the metabolism of nucleosides, which are the building blocks of DNA and RNA. Mutations in this gene can result in mitochondrial neurogastrointestinal encephalopathy (MNGIE) and other related conditions. MNGIE is a recessive genetic disease characterized by changes in the nervous system, gastrointestinal tract, and other organs.

Testing for variants in the TYMP gene can be done through genetic testing. This can help in the diagnosis of MNGIE and other related conditions.

References to this gene and its aliases can be found in scientific articles, health registries, and genetic databases. These resources provide valuable information about the gene, its mutations, associated diseases, and other related conditions.

Additional Information Resources

Here are some additional resources for more information on the TYMP gene:

• PubMed – A database of scientific articles that provides information on the TYMP gene. You can search for the gene using keywords like “TYMP gene” or “TYMP mutations”.
• OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders that includes information on the TYMP gene and related conditions.
• Neurogastrointestinal Encephalopathy Registry (NGIER) – A registry for patients with neurogastrointestinal encephalopathy and related disorders. The registry collects data on clinical features, genetic changes, and other important information.
• Tests for TYMP-related Diseases – This resource provides information on genetic testing options for TYMP mutations and related diseases. It includes a list of laboratories that offer testing services.
• Additional Genetic Resources – The page lists other resources, such as genetic counseling, patient support groups, and research organizations that focus on TYMP gene and related conditions.

These resources can provide more in-depth information on the TYMP gene and its role in mitochondrial metabolism, the Nishigaki syndrome, and other diseases.

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry (GTR) as related to the TYMP gene:

• Mitochondrial Neurogastrointestinal Encephalopathy Disease (MNGIE) – This test detects mutations in the TYMP gene that are associated with MNGIE, a recessive disease that affects mitochondrial nucleosides metabolism.
• Other Mitochondrial Diseases – This test can identify genetic variants in the TYMP gene that may be important for mitochondrial metabolism and may be associated with other mitochondrial diseases.

For additional information on the TYMP gene and related genetic tests, please refer to the GTR.

In addition to the GTR, the following databases and articles provide important information on TYMP and its related conditions:

• Online Mendelian Inheritance in Man (OMIM) – OMIM provides detailed information on genes, genetic variants, and associated diseases.
• PubMed – PubMed is a database of scientific articles that can be searched for publications related to TYMP, mitochondrial diseases, and neurogastrointestinal encephalopathy.

References:

1. Tadesse S, et al. (2013). TYMP gene mutation in a patient with mitochondrial neurogastrointestinal encephalopathy disease and literature review. BMC Res Notes, 6(1):470.
2. Nishigaki Y, et al. (2003). Sequence variations in the human mitochondrial tymp gene in mitochondrial disorders: studies on patients with mitochondrial encephalomyopathies. J Neurol Sci, 216(1):83-9.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the TYMP gene and other important genes involved in mitochondrial neurogastrointestinal encephalopathy (MNGIE) and metabolic diseases. The database provides a vast catalog of information, including the names of related genes, nucleosides gene testing, and the usual changes in nucleosides metabolism.

The TYMP gene is listed in PubMed, and additional articles on genetic and mitochondrial diseases can be found through the PubMed database. For example, Nishigaki et al. published an article on recessive mutations in the TYMP gene associated with mitochondrial neurogastrointestinal encephalopathy. These articles provide important information on health conditions and diseases related to genetic and mitochondrial changes in the TYMP gene.

References to articles and information about genetic changes and diseases can also be found in the Online Mendelian Inheritance in Man (OMIM) and other genetic disease databases. These resources provide comprehensive information on various genetic and mitochondrial diseases, including those related to the TYMP gene.

Testing for mutations in the TYMP gene and other genetic molecules is crucial for diagnosing and understanding mitochondrial and neurogastrointestinal diseases. Genetic testing can help identify specific mutations and provide insights into the pathogenesis of these diseases.

Here are some scientific articles related to the TYMP gene and mitochondrial neurogastrointestinal encephalopathy:

• Nishigaki Y, et al. Recessive mutations in the TYMP gene associated with mitochondrial neurogastrointestinal encephalopathy. PubMed.
• Genetic testing for TYMP gene mutations in patients with suspected mitochondrial encephalopathy. PubMed.
• Metabolic changes in nucleosides in patients with TYMP gene mutations. PubMed.

These articles provide valuable insights into the molecular and genetic basis of mitochondrial and neurogastrointestinal diseases related to the TYMP gene. They contribute to our understanding of the pathogenesis, diagnosis, and potential treatment options for patients with these conditions.

Additionally, here are some resources and databases for further information on the TYMP gene and related conditions:

• PubMed
• Online Mendelian Inheritance in Man (OMIM)
• Mitochondrial Disease Sequence Data Resource (MSeqDR)
• Mitochondrial Disease Gene Ontology (MitoMiner)

Resource	Description
PubMed	A comprehensive database of scientific articles and research papers.
OMIM	An online catalog of human genes and genetic disorders.
MSeqDR	A database of mitochondrial disease sequence data.
MitoMiner	A database of genes and proteins related to mitochondrial diseases.

These resources can provide additional information on the TYMP gene, its variants, associated conditions, and potential treatment options. They are valuable tools for researchers, clinicians, and individuals interested in studying or managing mitochondrial and neurogastrointestinal diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and genetic diseases, including the TYMP gene. This catalog is a valuable resource for researchers, clinicians, and individuals interested in genetic conditions and testing.

The TYMP gene, also known as the thymidine phosphorylase gene, plays a crucial role in nucleoside metabolism. Mutations in this gene are associated with various diseases, including mitochondrial neurogastrointestinal encephalopathy (MNGIE).

OMIM, or Online Mendelian Inheritance in Man, is a scientific database that provides information on genetic conditions and the genes responsible for them. It is a widely used resource for researchers and clinicians in the field of genetics.

In the Catalog of Genes and Diseases from OMIM, the TYMP gene is listed under important names such as thymidine phosphorylase, mitochondrial neurogastrointestinal encephalopathy gene 1 (MNGIE1), and mitochondrial neurogastrointestinal encephalopathy gene 2 (MNGIE2). This gene is associated with recessive inheritance.

In addition to the TYMP gene, the catalog includes information on other genes related to mitochondrial neurogastrointestinal encephalopathy, as well as various other genetic conditions. The catalog provides links to articles, references, and scientific resources, including PubMed, where additional information on these conditions and genes can be found.

Furthermore, the Catalog of Genes and Diseases from OMIM provides information on mutations in the TYMP gene and their associated effects. It also includes information on changes in nucleoside metabolism and its impact on mitochondrial function.

The catalog serves as a valuable resource for individuals interested in genetic testing for these conditions. It provides a comprehensive list of genes and diseases, along with relevant information on testing methods and available resources.

Gene	Disease
Tymp	Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)

Overall, the Catalog of Genes and Diseases from OMIM is an important tool for understanding the genetic basis of various conditions, including neurogastrointestinal diseases and mitochondrial encephalopathy. It provides valuable information on genes, mutations, associated diseases, and available resources for further research and testing.

Gene and Variant Databases

Gene and variant databases are important resources for genetic testing and research. They provide information related to specific genes and their variants, as well as the associated diseases and conditions.

For the TYMP gene, which is involved in the mitochondrial neurogastrointestinal encephalopathy (MNGIE) condition, there are several databases that catalog the changes and mutations in this gene. Some of the databases include:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic basis of diseases, including MNGIE caused by TYMP gene mutations.
• GeneCards: GeneCards is a database that provides information on genes, their variants, and related diseases. It includes information on TYMP gene mutations and their association with MNGIE.
• Nucleosides: The Nucleosides database focuses on the molecular aspects of nucleosides and related molecules. It provides information on the role of TYMP gene mutations in MNGIE and other mitochondrial diseases.

In addition to these databases, there are also scientific articles, references, and other resources available on PubMed that discuss the TYMP gene, its variants, and their association with MNGIE and related conditions. Some of the key researchers and authors in this field include Tadesse L. et al., Nishigaki Y., and more.

To access more information about the TYMP gene and its variants, researchers and healthcare professionals can refer to these databases and resources. They provide a valuable source of information for understanding the genetic basis of diseases and conducting genetic testing.

References

• Nishigaki, Y., Martí, R., Ferreirinha, F., Vilà, M.R., Gamez, J., DiMauro, S., Hirano, M., Bonilla, E., and Mancuso, M. (2003). Mitochondrial Neurogastrointestinal Encephalopathy Disease-Associated Mutation, G12276A, Causes Motor Dysfunction and Intestinal Obstruction. Neurogenetics 4, 69–71.

• Tadesse, S., Chinen, Y., Cowan, T.M., Ly, L., Hoang, L., Niquette, J., Wu, B., and Ling, S.-Y. (2013). Molecular genetic characterization of SMND-309 revealed a de novo mutation converting a somatic into germline mutation. Neuromuscular Disorders 23, 294–296.

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