TTC37 gene

The TTC37 gene, also known as Trichohepatoenteric syndrome (TCS), is associated with a rare genetic syndrome characterized by hair, liver, and intestinal abnormalities. TCS is caused by changes or variations in the TTC37 gene, which encodes a protein involved in the development and function of various tissues in the body.

TCS is a syndromic genetic disorder, meaning that it is associated with a collection of symptoms and conditions. The syndrome is rare and has been described in a few families worldwide. Individuals with TCS may experience various health issues, including severe diarrhea, liver disease, hair abnormalities, and developmental delay.

Scientific articles and databases, such as OMIM (Online Mendelian Inheritance in Man), provide additional information on the TTC37 gene and its role in trichohepatoenteric syndrome. These resources can be useful for researchers, healthcare professionals, and individuals interested in genetic testing and diagnosis.

Genetic testing can identify changes or variants in the TTC37 gene and help confirm a diagnosis of trichohepatoenteric syndrome. It can also be used to provide information about possible treatment options, management strategies, and prognosis.

Overall, the TTC37 gene plays a crucial role in the development and function of various tissues and organs in the body. Understanding its role and the associated conditions can contribute to improved diagnosis, management, and healthcare for individuals with trichohepatoenteric syndrome and related syndromic genetic disorders.

Health Conditions Related to Genetic Changes

Syndromic trichohepatoenteric syndrome (TTC37 gene) is a rare health condition caused by genetic changes in the TTC37 gene. This syndrome is listed in the OMIM catalog of genetic diseases and syndromes.

Genetic changes in the TTC37 gene can lead to various health conditions, including trichohepatoenteric syndrome. Additional information and resources on this condition and related genetic changes can be found in scientific databases such as PubMed, OMIM, and the TTC37 variant registry.

Health conditions related to genetic changes in the TTC37 gene may present with symptoms such as hair abnormalities, liver dysfunction, and intestinal issues. The proteins encoded by the TTC37 gene play crucial roles in the development and function of these organs and systems.

Genetic testing for TTC37 gene variants can help diagnose trichohepatoenteric syndrome and other related health conditions. This testing involves analyzing the genes and identifying any genetic changes that may be responsible for the observed symptoms.

For more information on health conditions related to genetic changes in the TTC37 gene, please refer to the references and articles available in the OMIM catalog, PubMed, and other scientific databases.

Trichohepatoenteric syndrome

Trichohepatoenteric syndrome (THES) is a rare genetic syndrome characterized by a variety of complex symptoms primarily affecting the hair, liver, and intestines. It is caused by variants in the TTC37 gene.

The TTC37 gene provides instructions for making a protein that is involved in the development and maintenance of various body tissues and organs. Variants in this gene can lead to changes in the structure or function of the protein, resulting in the symptoms associated with THES.

Information on THES and the TTC37 gene can be found in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) catalog, Pubmed, and other scientific articles. The syndrome is also listed in genetic testing databases and registries, which provide additional information on related genes, proteins, and conditions.

Patients with THES typically exhibit syndromic features related to abnormalities in the hair, liver, and intestines. Some of the common symptoms include sparse and brittle hair, liver disease, chronic diarrhea, and failure to thrive. However, the severity and specific symptoms can vary widely among individuals.

Genetic testing is often recommended for individuals suspected to have THES, as it can confirm the presence of TTC37 gene variants. This can be done through targeted gene sequencing or whole-exome sequencing, which can identify changes in the genetic code associated with THES.

Currently, there is no specific treatment for THES, and management focuses on addressing the individual symptoms and complications. This may involve interventions such as nutritional support, liver transplant, and monitoring and managing gastrointestinal issues.

See Also:  47XYY syndrome

In conclusion, trichohepatoenteric syndrome is a rare genetic condition caused by variants in the TTC37 gene. It is associated with a range of symptoms primarily affecting the hair, liver, and intestines. Additional information and resources can be found in genetic databases, scientific articles, and registries dedicated to rare genetic diseases.

Other Names for This Gene

This gene is also known by other names:

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  • colomb,changes,variant,catalog,genetic
  • additional,databases,syndrome, odul,conditions,omim
  • from,to, rare,scientific
  • the,listed,references, genetic,in,testing,health
  • proteins,resources,gene,of,genes,trichohepatoenteric,this
  • -, pubmed
  • this, syndromic,for,information,related,names,on

For more information related to this gene, you can refer to scientific articles, genetic testing resources, registries, databases, and other sources. Some of the additional names and terms associated with TTC37 gene include diseases, variant, catalog, genetic changes, syndromic conditions, OMIM, rare diseases, genetic testing, health proteins, and more. You can also find information on this gene in pubmed, as well as references listed in scientific articles.

Additional Information Resources

For additional information on the TTC37 gene and related rare genetic proteins, the following resources may be helpful:

  • Trichohepatoenteric Syndrome Scientific Registry: A database that collects information on individuals with trichohepatoenteric syndrome and related conditions.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genes, genetic conditions, and syndromes.
  • Genetic Testing Registry: A database that provides information on genetic tests and laboratories offering these tests.
  • GeneReviews: An online resource that provides information on genetic conditions and the genes associated with them.
  • PubMed: A database that provides access to a wide range of scientific articles and publications.
  • ClinVar: A database that provides information on genetic variants and their relationship to diseases and conditions.
  • Genetic and Rare Diseases Information Center (GARD): An information portal that provides resources on genetic and rare diseases, including information on specific genes and variants.

These resources can help you find more information on the TTC37 gene and its associated conditions, as well as access scientific articles and references on the topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a list of genetic tests for various conditions. This includes tests related to the TTC37 gene and its associated syndromic rare diseases.

The TTC37 gene is known to be associated with trichohepatoenteric syndrome (THES). THES is a rare condition characterized by hair abnormalities, liver disease, and intestinal problems.

The GTR lists genetic tests that can detect changes (variants) in the TTC37 gene. These tests can help diagnose individuals with THES or related syndromic conditions.

The GTR provides information on various tests offered by different laboratories. These tests are designed to analyze the TTC37 gene and identify any disease-causing variants.

The GTR also provides additional information on the genes and proteins related to THES and other syndromic conditions. This includes references to scientific articles, databases such as OMIM and PubMed, and resources for genetic testing.

By providing a comprehensive catalog of genetic tests, the GTR helps healthcare professionals and individuals access the necessary resources for genetic testing. This information can aid in the diagnosis and management of THES and related conditions.

For more information on the tests listed in the Genetic Testing Registry, please visit their website.

Scientific Articles on PubMed

PubMed is a renowned database that provides access to a wide range of scientific articles related to various topics. In regards to the TTC37 gene, there are numerous articles available on PubMed. These articles explore different aspects of the gene and its related disorders.

Some of the articles focus on testing for TTC37 gene variants and their association with syndromic conditions. These tests aim to identify rare genetic changes in the TTC37 gene and their connection to specific diseases. The Gene Testing Registry and OMIM are valuable resources for information on genetic testing and the associated conditions.

Other articles provide more extensive information on the TTC37 gene and its role in trichohepatoenteric syndrome. Trichohepatoenteric syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by changes in hair, liver, and intestine. PubMed has many scientific articles dedicated to studying the genetics, symptoms, and management of this syndrome.

See Also:  Sialidosis

In addition to the TTC37 gene, PubMed also contains articles on other genes and proteins that are related to trichohepatoenteric syndrome. These articles provide a comprehensive understanding of the genetic basis of the syndrome and the underlying molecular mechanisms.

The articles listed on PubMed cover a wide range of topics related to TTC37 and trichohepatoenteric syndrome. They include scientific research, case studies, reviews, and other valuable sources of information. The extensive catalog of articles available on PubMed serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on the TTC37 gene and its associated conditions.

References:

  1. PubMed: https://pubmed.ncbi.nlm.nih.gov/
  2. Gene Testing Registry: https://www.genetests.org/
  3. OMIM: https://omim.org/

Catalog of Genes and Diseases from OMIM

OMIM, Online Mendelian Inheritance in Man, is a comprehensive database that provides information on rare genetic diseases and the genes associated with them. It includes detailed articles, proteins, conditions, and syndromes that are linked to specific genes.

TTC37 gene, also known as Trichohepatoenteric Syndrome 1 (THES1) gene, is one of the genes listed in the OMIM database. Trichohepatoenteric Syndrome (THES) is a rare genetic condition characterized by changes in hair, liver, and intestine. The TTC37 gene is associated with this syndrome.

The OMIM database provides a catalog of genes and diseases, along with scientific articles, testing resources, and references from PubMed and other databases. In addition to the information on TTC37 gene and Trichohepatoenteric Syndrome, there are many other genetic conditions and related genes listed in the database.

For further information on TTC37 gene and Trichohepatoenteric Syndrome, you can refer to the OMIM database and the registry of genetic tests. These resources can provide additional information on the gene, variant names, testing options, and related scientific articles.

The OMIM database is a valuable resource for scientists, healthcare professionals, and individuals seeking information on rare genetic diseases. It offers a comprehensive catalog of genes and diseases, along with references and resources to aid in research and diagnosis.

Gene and Variant Databases

In the field of scientific articles and databases, there are several resources available for finding information related to the TTC37 gene and its variants. These databases serve as a catalog of genetic changes and provide valuable information on various conditions.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on genes, genetic variants, and the associated phenotypes. It includes information on the TTC37 gene and its related proteins.
  • GeneTests: This database provides information on genetic testing options for various genetic conditions. It includes information on the TTC37 gene and its associated conditions, such as Trichohepatoenteric Syndrome.
  • PubMed: PubMed is a vast database of scientific articles and publications. It includes studies and research papers on the TTC37 gene and its various aspects. Researchers can find valuable information on the gene’s functions, mutations, and related syndromes.
  • Genecards: Genecards is a comprehensive database that provides detailed information on different genes and their functions. It includes information on the TTC37 gene, its aliases, and associated syndromes such as Trichohepatoenteric Syndrome.
  • GeneReviews: GeneReviews is a resource that provides up-to-date information on genetic disorders. It includes comprehensive reviews on various genes, including the TTC37 gene, and their associated syndromes. These reviews provide detailed information on the clinical features, diagnosis, management, and genetic counseling of the condition.

These databases and resources serve as valuable references for researchers, healthcare professionals, and patients seeking information on the TTC37 gene and its variants. They provide a comprehensive understanding of the genetic basis, associated conditions, and available testing options for syndromic and rare genetic disorders.

References

  • OMIM: 219050

  • PubMed: TTC37 gene

  • Genetic Testing Registry: TTC37

  • Gene Reviews: Trichohepatoenteric syndrome

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