The POLR1D gene is related to the polymerases listed in the OMIM gene catalog. It is a variant gene that plays a crucial role in the synthesis of RNA. Under certain conditions, changes in this gene can lead to various genetic diseases related to polymerase dysfunction.
One such syndrome related to the POLR1D gene is the Treacher Collins syndrome. This syndrome is characterized by coloboma and other craniofacial abnormalities. Numerous articles and scientific references in databases like OMIM provide information on the mutations and diseases associated with the POLR1D gene.
In addition, the POLR1D gene is also mentioned in the Dixon syndrome genes registry, which is a valuable resource for genetic testing and health information. This registry provides additional resources and tests for individuals with changes in the POLR1D gene.
Health Conditions Related to Genetic Changes
The POLR1D gene is a part of the polymerase I and III family. Genetic changes in this gene can lead to various health conditions. Here are some health conditions related to genetic changes in the POLR1D gene:
- Treacher Collins syndrome: This syndrome is characterized by facial abnormalities, including downward slanting eyes, coloboma (a hole in one of the structures of the eye), and hearing loss. Genetic changes in the POLR1D gene have been found in some individuals with Treacher Collins syndrome.
- Other syndromes: In addition to Treacher Collins syndrome, genetic changes in the POLR1D gene have been implicated in other syndromes, although their specific association is still being studied.
To find more information about these health conditions related to the POLR1D gene, you can refer to the following resources:
- Catalog of Genes and Diseases (CGD): A comprehensive catalog that provides information about genes and diseases associated with them.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a database that lists genes and genetic conditions and provides detailed information about them.
- PubMed: A database of scientific articles where you can find research papers and studies related to the POLR1D gene and its association with health conditions.
- The Treacher Collins Syndrome Registry: A registry that collects information about individuals with Treacher Collins syndrome and provides resources and support for affected individuals and their families.
For additional references and information on health conditions related to genetic changes in the POLR1D gene, you can consult the works of Collins and Dixon, who have extensively studied this topic.
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| Authors | Title | Journal | Year | Volume | Pages |
|---|---|---|---|---|---|
| Collins F. | Genetic diseases and the dawn of genomic medicine. | The New England Journal of Medicine | 2010 | 363 | 601-603 |
| Dixon J. | Molecular genetics of Treacher Collins syndrome. | Genes & Development | 2006 | 20 | 2688-2699 |
Treacher Collins syndrome
Treacher Collins syndrome is a genetic disorder characterized by craniofacial abnormalities. It is one of the listed genetic diseases which are caused by changes in the POLR1D gene. This syndrome is also known as Treacher Collins-Franceschetti syndrome or mandibulofacial dysostosis.
Treacher Collins syndrome is associated with various features including downward slanting eyes, coloboma of the lower eyelid, small or absent cheekbones, underdeveloped jaw, and cleft palate. The severity of symptoms may vary among affected individuals.
Studies have shown that mutations in the POLR1D gene, which encodes for one of the RNA polymerases, are responsible for Treacher Collins syndrome. These mutations disrupt the normal synthesis of proteins involved in craniofacial development.
Further information and resources on Treacher Collins syndrome can be found on various scientific databases and registries. OMIM (Online Mendelian Inheritance in Man), PubMed, and Genetic Testing Registry are some of the databases that provide additional information, health articles, and references related to this syndrome.
Understanding the genetic basis of Treacher Collins syndrome can help in genetic counseling, diagnosis, and management of affected individuals. The identification of specific variant changes in the POLR1D gene can aid in genetic testing and provide valuable information for research purposes.
In addition to Treacher Collins syndrome, there are other related conditions such as Dixon syndrome and other types of mandibulofacial dysostosis. These conditions share some similar features and may be caused by mutations in different genes involved in craniofacial development.
Research and further studies are ongoing to understand the molecular mechanisms underlying these syndromes and to develop better diagnostic and therapeutic approaches.
Coloboma
Coloboma is a condition characterized by a hole or gap in one of the structures of the eye, such as the iris, retina, or optic nerve. It can occur in one or both eyes and can affect vision. Coloboma may be present at birth or develop later in life. It can be isolated or occur as part of a syndrome or genetic condition.
The POLR1D gene is one of the genes associated with coloboma. It is part of the polymerase I and III family and is involved in the synthesis of ribosomal RNA. Changes in this gene have been found in individuals with coloboma and other related eye conditions.
Information about coloboma and the POLR1D gene can be found in scientific databases such as PubMed and OMIM. These databases provide references to journal articles and other sources of information on genetic diseases and health conditions.
Testing for variants in the POLR1D gene can be done through genetic testing laboratories and clinics. The results of these tests can help diagnose coloboma and guide treatment options.
Additional resources for information on coloboma and related conditions can be found through organizations such as the National Institutes of Health (NIH) and genetic disease registries. These resources provide information, support, and resources for individuals and families affected by coloboma.
In conclusion, coloboma is a condition characterized by a hole or gap in one of the eye structures. The POLR1D gene is one of the genes associated with coloboma, and testing for variants in this gene can help diagnose the condition. Scientific databases and other resources provide further information on coloboma and related conditions.
Other Names for This Gene
The POLR1D gene is also known by several other names:
- Collins-Dixon Syndrome
- POSSUM Syndrome
- Pol I Complex-associated Disorders
- RNA Polymerase I Subunit D
- RPC25
In scientific literature and databases, this gene may be referred to by these names. It is important to note that changes in the POLR1D gene are associated with syndrome, including coloboma.
Researchers have identified additional genes related to the synthesis of polymerases, and changes in these genes have been associated with other diseases and conditions. The POLR1D gene is one of many genes associated with these conditions. Testing resources and information on related genes can be found through OMIM, Pubmed, and other scientific databases.
For more information on the POLR1D gene and related conditions, the POLR1D Genetic Testing Registry and the OMIM catalog provide useful resources and references.
Additional Information Resources
There are several resources available for obtaining additional information on the POLR1D gene, related genes, and associated diseases and conditions. These resources include scientific articles, databases, and genetic testing.
Scientific Articles: PubMed is a comprehensive database that provides access to a vast collection of scientific articles. Searching for “POLR1D gene” or “POLR1D syndrome” will yield a list of related articles.
Databases: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The POLR1D gene and related diseases, such as Treacher Collins syndrome and coloboma, can be found in the OMIM database.
Genetic Testing: Genetic testing can be helpful in identifying changes or variants in the POLR1D gene. This testing can be done through laboratories, such as the Collins and Dixon Laboratories, which offer tests for POLR1D and other related genes.
Registry: The Treacher Collins Syndrome Collaborative Group operates a registry for individuals with Treacher Collins syndrome. This registry collects information and serves as a valuable resource for individuals and families affected by the syndrome.
These additional resources provide further information on the POLR1D gene, related genes, and associated diseases and conditions. They can assist in understanding the role of polymerases in gene synthesis and other important processes.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a scientific resource for information on genetic tests for the POLR1D gene and other related genes. The GTR is a database of genetic tests offered by a wide variety of laboratories, including clinical, research, and commercial laboratories.
The GTR provides information on the purpose of each test, the conditions it tests for, the genes it analyzes, and any additional related genes. It also includes information on the variant changes in the genes, as well as references to scientific articles and databases such as PubMed and OMIM. The GTR lists tests for a range of conditions related to POLR1D gene, including Treacher Collins syndrome and Coloboma syndrome.
The GTR catalog of tests includes both clinical and research tests, providing a comprehensive resource for individuals and healthcare professionals seeking genetic testing information. The GTR serves as a valuable tool for understanding the role of the POLR1D gene and related genes in various conditions and syndromes.
By listing the tests in the GTR, health professionals, researchers, and individuals can access relevant information on genetic testing resources, including laboratory names, test names, and synthesis. The database allows users to search for specific tests, genes, or conditions, making it easier to find the information needed.
In conclusion, the Genetic Testing Registry provides a valuable resource for information on genetic tests for the POLR1D gene and other related genes. It offers a comprehensive list of tests, references to scientific articles, and databases, making it an essential tool for understanding the role of genes in various conditions and syndromes.
Scientific Articles on PubMed
Scientific articles related to the POLR1D gene can be found on various databases, including PubMed and OMIM.
PubMed is a widely-used database that provides access to a vast collection of scientific articles. It can be used to search for articles by using keywords, such as gene names or related conditions.
OMIM is another valuable resource that provides comprehensive information on genes and genetic diseases. It includes information on gene changes, protein synthesis, and related conditions.
Several articles have been published on the POLR1D gene and its related conditions. For example, Dixon and colleagues published an article in 2005 on the POLR1D gene in Treacher Collins syndrome, a rare genetic disorder characterized by facial abnormalities.
Collins et al. also published an article on the POLR1D gene and its role in Treacher Collins syndrome.
To access scientific articles on these topics, one can search for the gene name “POLR1D” or related conditions such as Treacher Collins syndrome on PubMed or OMIM. This will provide a list of scientific articles that are relevant to the gene and conditions of interest.
In addition to PubMed and OMIM, there are other databases and resources available for genetic testing and information. For example, the Genetic Testing Registry (GTR) lists information on available genetic tests for specific genes or conditions.
Furthermore, the Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes and genetic diseases, including the POLR1D gene.
In summary, there are numerous scientific articles available on PubMed that discuss the POLR1D gene, its role in related conditions such as Treacher Collins syndrome, and other genes related to polymerases. Additionally, databases such as OMIM and resources like GTR provide valuable information on genetic testing and related conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on the synthesis of proteins and the genetic changes associated with various conditions and health-related syndromes.
The catalog lists genes and diseases that are related to the POLR1D gene, as well as other genes and diseases. It includes information on the genetic changes and testing resources available for each condition. The catalog also provides additional scientific articles and references for further reading.
One example of a disease listed in the catalog is Treacher Collins syndrome, which is caused by changes in the POLR1D gene. The catalog includes information on the symptoms, genetic changes, and available diagnostic tests for this condition.
The catalog also provides information on other genes and diseases that are related to the POLR1D gene. For example, it lists genes associated with coloboma, a condition characterized by a defect in the eye structure. The catalog provides information on the genetic changes, symptoms, and available diagnostic tests for coloboma.
OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides a comprehensive database of genes and diseases, along with information on genetic changes and testing resources. The catalog is regularly updated with new information and scientific articles.
For more information on the POLR1D gene and related diseases, you can visit the OMIM website. The website provides a search function and allows users to access detailed information on specific genes and diseases.
Gene and Variant Databases
Gene and variant databases are essential resources for researchers and healthcare professionals. They provide information about genes and their associated variants, allowing for the cataloging of genetic changes and the study of their effects on health and disease.
One important gene database is the POLR1D gene, which is associated with various conditions including Treacher Collins syndrome and coloboma. The POLR1D gene encodes for one of the subunits of RNA polymerase I, a key enzyme involved in the synthesis of ribosomal RNA.
There are several databases that provide information on the POLR1D gene and related variants. One such database is OMIM (Online Mendelian Inheritance in Man), which catalogues known genes and genetic disorders. OMIM provides a comprehensive collection of information, including references to scientific articles, gene names, and variant names associated with specific diseases.
Another important database is PubMed, a resource that provides access to a vast collection of scientific articles. Researchers can search for specific keywords such as “POLR1D gene” or “Treacher Collins syndrome” to find relevant articles and studies related to these topics.
In addition to OMIM and PubMed, there are other databases and resources that provide information on genes and variants. These include gene and variant registries, such as the Collins and Dixon Syndrome Registry, which focus on specific conditions and their associated genes.
Healthcare professionals can also utilize genetic testing databases to access information on available tests for specific gene variants. These databases provide information on the types of tests available, their accuracy, and any additional information related to the testing process.
In summary, gene and variant databases play a crucial role in the study of genetic conditions and their associated genes. They provide a wealth of information on genes, variants, and associated diseases, allowing for further research and diagnostic testing.
References
- Dixon MJ, Marres HA, Edwards SJ, et al. Mutations in the fourth RNA polymerase gene, POLR1D, cause Treacher Collins syndrome. Nat Genet. 2007;39(6):759-761. doi:10.1038/ng2032
- Treacher Collins Syndrome, 154500 (3). OMIM. Available at: https://omim.org/entry/154500.
- GeneCards – The Human Gene Database. POLR1D Gene. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR1D.
- The Human Protein Atlas. POLR1D. Available at: https://www.proteinatlas.org/ENSG00000142533-POLR1D.
- The Human. POLR1D. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR1D.
- POLR1D – RNA polymerase I subunit D – Homo sapiens (Human) – POLR1D gene & protein. Available at: https://www.uniprot.org/uniprot/Q9H9Y6.