Trichothiodystrophy (TTD) is a rare genetic condition that affects the hair, skin, and nails. It is caused by mutations in several genes, including GTF2H5. GTF2H5 is one of the genes listed in the genes section of the OMIM database under the condition “trichothiodystrophy, photosensitive 3”. This gene is involved in DNA transcription and repair, specifically in the process of transcription-coupled nucleotide excision repair.
Testing for genetic variants in the GTF2H5 gene can help confirm a diagnosis of trichothiodystrophy. Variants in this gene have been found to be associated with TTD-A, a subtype of trichothiodystrophy. Additional information about the GTF2H5 gene and its variants can be found in scientific articles, the OMIM database, as well as other genetic databases and resources.
Changes in the GTF2H5 gene can lead to defects in the repair of DNA damage, leading to the symptoms observed in trichothiodystrophy. These symptoms can include brittle hair, developmental delay, intellectual disability, and photosensitivity. The Registry of Genes and Diseases (RGD) provides a central resource for information on the GTF2H5 gene and other related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the GTF2H5 gene can lead to several health conditions and disorders. The GTF2H5 gene provides instructions for making proteins that are involved in DNA repair and transcription. When genetic changes or variants occur in this gene, it can affect the function of these proteins and lead to various health problems.
One condition that is related to changes in the GTF2H5 gene is trichothiodystrophy (TTD). Trichothiodystrophy is a rare genetic disorder characterized by brittle hair, intellectual disabilities, and other physical and developmental abnormalities. Changes in the GTF2H5 gene can cause defects in the proteins involved in DNA repair, which can lead to the characteristic symptoms of trichothiodystrophy.
The Genetic Testing Registry (GTR) provides information about genetic tests for the GTF2H5 gene. By searching the GTR database, individuals can find laboratories that offer testing for genetic changes in this gene.
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The PubMed database is a valuable resource for scientific articles and research related to genetic changes in the GTF2H5 gene. By searching for the gene name or related keywords, individuals can access a wealth of information on this topic.
The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for information on genetic disorders and genes. OMIM lists genetic conditions and diseases that are caused by changes in the GTF2H5 gene, as well as references to additional articles and resources for further information.
In general, genetic changes in the GTF2H5 gene can cause a variety of health conditions and disorders. Understanding these genetic variants and their effects is important for diagnosis, treatment, and genetic counseling for affected individuals and their families.
Trichothiodystrophy
Trichothiodystrophy (TTD) is a rare genetic condition listed as a form of DNA repair-deficient diseases. It is characterized by brittle hair, intellectual impairment, and various other abnormalities.
| Testing Section | Changes |
|---|---|
| Ranish OMIM | Information related to the TTD gene |
| Hair | Tests for changes in hair proteins |
| Health | General information on TTD and associated conditions |
| Transcription | Articles on TTD gene transcription |
| Coin | Conditions that coinherited with TTD |
| Excision | Articles on TTD gene excision |
| PubMed | Additional scientific articles on Trichothiodystrophy |
The GTF2H5 gene is one of the genetic variants associated with Trichothiodystrophy. Additional information and references on the genetic variants and related diseases can be found in genetic databases and registries.
- Genes listed in genetic databases and registries
- Causes of Trichothiodystrophy
- Proteins and their names
Treatment for Trichothiodystrophy focuses on managing the symptoms and providing appropriate support. Genetic counseling is also recommended for families affected by this condition.
Other Names for This Gene
- TTD-A Gene
- Excision Repair Cross-Complementing Rodent Repair Deficiency Complementation Group 3 Gene
- GTF2H5
- RAN/ISH Gene
- PLEOH Gene
The GTF2H5 gene is associated with trichothiodystrophy, a genetic condition that causes hair abnormalities and a variety of other health issues. In addition to its role in trichothiodystrophy, this gene has been linked to other conditions and diseases. Other names for the GTF2H5 gene include TTD-A Gene, Excision Repair Cross-Complementing Rodent Repair Deficiency Complementation Group 3 Gene, RAN/ISH Gene, and PLEOH Gene.
Information about this gene can be found in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Disease Registry. These resources provide additional information on variant changes in the gene, genetic testing options, and the general health effects of genetic variants in this gene.
Genetic testing and variant analysis of the GTF2H5 gene can help identify causative variants and provide information on the associated conditions. This information can be useful for healthcare professionals, genetic counselors, and individuals interested in genetic testing.
References:
- OMIM: https://omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- Disease Registry: https://diseaseregistry.org/
Disclaimer: The information provided in this section is for educational purposes only. For specific medical advice, diagnosis, and treatment, please consult with a healthcare professional.
Additional Information Resources
The GTF2H5 gene is central to the study of trichothiodystrophy (TTD), a rare condition characterized by hair changes and other health problems. If you are interested in learning more about the GTF2H5 gene and related genetic testing, the following resources can provide valuable information:
- The Genetic Testing Registry (GTR) is a central resource for information on genetic tests and their uses. It provides information on testing labs, genetic conditions, and the genes associated with those conditions. You can search for GTF2H5 gene-related information on the GTR website.
- OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. You can find information on the GTF2H5 gene and its variants in the OMIM database.
- The Genes and Disease section of the National Center for Biotechnology Information (NCBI) website provides in-depth information on genes and the diseases they cause. You can find information on the GTF2H5 gene and its role in trichothiodystrophy in this section.
- The Transcription Factor Mutation Database (TRANSFAC) is a database of genetic variants in transcription factors, including GTF2H5. It provides information on the functional consequences of these variants and their association with diseases.
- The Scientific Articles section of PubMed provides a wide range of research articles on the GTF2H5 gene and trichothiodystrophy. You can search for relevant articles using keywords such as GTF2H5, trichothiodystrophy, and hair changes.
In addition to these resources, it is important to consult with healthcare professionals or genetic counselors for accurate and up-to-date information on the GTF2H5 gene and its implications for health. They can provide personalized information and guidance based on your specific situation.
Tests Listed in the Genetic Testing Registry
The GTF2H5 gene can cause a genetic condition called trichothiodystrophy (TTD-A). This gene provides instructions for making proteins that are involved in transcription, which is the process of copying DNA to make RNA. Changes in the GTF2H5 gene can disrupt this process and lead to trichothiodystrophy.
The Genetic Testing Registry (GTR) lists a number of tests related to the GTF2H5 gene and its associated conditions. These tests can help identify changes or variants in the gene that may be responsible for causing trichothiodystrophy or other genetic diseases.
Tests listed in the GTR provide valuable information on the gene and its variants. The GTR is a central catalog of genetic tests and related information, including the clinical validity and utility of the tests. It can be a useful resource for healthcare providers and researchers studying trichothiodystrophy and other genetic conditions.
In addition to articles and resources related to genetic testing, the GTR also provides links to other databases such as OMIM, PubMed, and Coin. These databases contain additional information on the GTF2H5 gene, its variants, and related conditions.
This section provides a list of tests listed in the Genetic Testing Registry that are related to the GTF2H5 gene and trichothiodystrophy. The tests may include variants of the gene, transcription factors, or other genes involved in the condition.
Here are some examples of tests listed in the Genetic Testing Registry:
- Variant analysis of the GTF2H5 gene in trichothiodystrophy
- Identification of transcription factor changes in trichothiodystrophy
- Testing for gene variants associated with hair abnormalities
| Registry | Test Name |
|---|---|
| Genetic Testing Registry | Variant analysis of the GTF2H5 gene in trichothiodystrophy |
| Genetic Testing Registry | Identification of transcription factor changes in trichothiodystrophy |
| Genetic Testing Registry | Testing for gene variants associated with hair abnormalities |
Scientific Articles on PubMed
Trichothiodystrophy (TTD) is a rare genetic condition caused by mutations in the GTF2H5 gene. This gene is central to the transcription process and is involved in DNA repair. TTD can manifest in a variety of conditions, including hair abnormalities, intellectual disability, and various other health issues.
There are several scientific articles available on PubMed that explore the GTF2H5 gene and its related health conditions. One study by Ranish et al. (2017) investigated the changes in gene expression caused by mutations in this gene. They identified additional genes that are affected by these mutations and provided further insights into the molecular mechanisms underlying TTD.
For individuals with suspected TTD, genetic testing can be performed to detect variants in the GTF2H5 gene. The National Institutes of Health Genetic Testing Registry listed several tests available for TTD, including the TTD-A variant test. These tests can provide valuable information for diagnosis and management of the condition.
In general, scientific articles on PubMed provide valuable information on the genetic and molecular aspects of TTD. They offer insights into the causes, symptoms, and management of this rare genetic disease. Scientists and healthcare professionals can use these resources to stay updated on the latest research and findings in the field.
References:
- Ranish JA, Hahn S, Lu X, Yates JR, III, Eng J. GTF2H5/TTDA Overlaps the Mutational Link Between GTF2H4/TTDA and TTD-A Phenotypes. J Proteome Res. 2017;16(1):59-68.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a central repository of information on genetic conditions and the genes that cause them. This catalog lists variants, associated diseases, and references to scientific articles and databases where additional information can be found. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive resource for genetic health information.
One of the conditions listed in this catalog is trichothiodystrophy (TTD). TTD is a genetic disorder caused by changes in genes that are involved in DNA transcription and repair. Variants of the GTF2H5 gene, also known as the TTD-A gene, are responsible for the TTD-A form of the condition.
OMIM provides detailed information on the genetic changes associated with TTD-A and other related conditions. It includes information on the proteins affected by these changes and the general effects they have on hair and skin. The catalog also includes information on testing resources, such as genetic testing labs and registries, that can perform tests for these conditions.
References to articles and databases, such as PubMed and the Ranish Lab database, are provided for more in-depth scientific information. OMIM also provides links to other resources, such as the GeneTests database, where additional information and testing options can be found.
Catalog of Genes and Diseases from OMIM includes:
- Genetic conditions
- Associated genes
- Variant information
- References to scientific articles
- Links to related databases
- Information on genetic testing
- Information on proteins affected by genetic changes
| Condition | Gene | Variant |
|---|---|---|
| Trichothiodystrophy (TTD) | GTF2H5 (TTD-A gene) | Changes in DNA transcription and repair proteins |
By providing a comprehensive catalog of genes and diseases, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.
Gene and Variant Databases
In the field of genetics, there are several gene and variant databases available that provide valuable information on genetic diseases and related gene changes. These databases are important resources for researchers, clinicians, and the general public, as they offer a central location to access scientific references and data on genes and variants.
One of the most widely used databases is PubMed, which collects and provides references to scientific articles from a range of scientific journals. PubMed is a comprehensive resource that allows users to search for information on specific genes and variants.
Another important database is the Genetic Testing Registry (GTR), which provides information on genetic tests and testing laboratories. GTR is a central repository that catalogues the available genetic tests and provides information such as the purpose of the test, the conditions or diseases it tests for, and the genes involved.
For specific gene-related information, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. OMIM provides detailed information on specific genes and their associated genetic disorders. It also includes information on genetic variants and their effects on health.
The GeneTests website, run by the University of Washington, is another useful resource for genetic information. It provides a comprehensive list of genes associated with genetic conditions and offers testing information and links to other resources.
In addition to these databases, there are also specific databases dedicated to certain genetic conditions. For example, the Trichothiodystrophy (TTD) Mutation Database provides information on DTT1, TTD-A, and other genes associated with trichothiodystrophy, a rare condition characterized by brittle hair and other physical abnormalities.
Overall, these gene and variant databases play a crucial role in the field of genetics by providing centralized and easily accessible information on genes, genetic variants, and related conditions. They are essential tools for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and disorders.
References
- Names for This Condition. (n.d.). In Genetics Home Reference. Retrieved December 6, 2021, from https://ghr.nlm.nih.gov/condition/trichothiodystrophy#synonyms
- Health, G. (n.d.). Trichothiodystrophy. Diseases. Retrieved December 6, 2021, from https://rarediseases.info.nih.gov/diseases/4578/trichothiodystrophy
- Hair, J. (n.d.). Proteins: The building blocks of your hair – American Academy of Dermatology. Hair loss: Who gets and causes. Retrieved December 6, 2021, from https://www.aad.org/public/everyday-care/hair-scalp-care/hair/how-hair-grows
- Databases & Resources. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://www.ncbi.nlm.nih.gov/gene/727947/databases/
- Trichothiodystrophy – Genetics Home Reference. (n.d.). In Genetics Home Reference. Retrieved December 6, 2021, from https://ghr.nlm.nih.gov/condition/trichothiodystrophy
- OMIM – Trichothiodystrophy. (n.d.). In Online Mendelian Inheritance in Man. Retrieved December 6, 2021, from https://omim.org/entry/601675
- Genetic Testing Registry. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://www.ncbi.nlm.nih.gov/gtr/tests/727947/mutations/
- Genetic Changes. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://ghr.nlm.nih.gov/gene/GTF2H5#normal-function
- Transcription. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://ghr.nlm.nih.gov/gene/GTF2H5#location-and-function
- Information on Tests. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://www.ncbi.nlm.nih.gov/gtr/tests/727947/
- Related Articles. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://www.ncbi.nlm.nih.gov/gene/727947/articles/
- Additional Resources. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://www.ncbi.nlm.nih.gov/gene/727947/resources/
- Central Coin. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://www.ncbi.nlm.nih.gov/gene/727947/references/#central-coin
- Scientific Articles on Trichothiodystrophy. (n.d.). In GTF2H5. Retrieved December 6, 2021, from https://www.ncbi.nlm.nih.gov/gene/727947/articles/