The RAD21 gene is a key regulator in the cell cycle and plays a crucial role in maintaining genomic stability. Mutations in this gene have been identified in various genetic syndromes, including Cornelia de Lange syndrome and trichorhinophalangeal syndrome type II. These mutations can result in structural changes to the cohesin complex, which is essential for proper chromosome segregation during cell division.
Research has shown that RAD21 mutations are associated with a range of clinical features, including intellectual disability, growth retardation, and characteristic facial abnormalities. This gene is listed in various genetic databases and resources, such as OMIM, PubMed, and the Human Gene Mutation Database. These resources provide additional information on the specific changes and variant names associated with RAD21 mutations.
In addition to RAD21, other genes involved in the cohesin complex have also been implicated in related genetic conditions. The RAD21 gene is just one example of the many genes that play a role in maintaining genomic stability and cellular function.
Genetic tests for RAD21 mutations can be utilized to diagnose these conditions in individuals with suspected genetic disorders. These tests can identify deletions or other changes in the RAD21 gene, providing valuable information for medical professionals and families.
Scientific articles and research papers available on PubMed and other scientific databases provide in-depth information on the RAD21 gene and its role in various genetic diseases. These resources can also help researchers and healthcare professionals stay up-to-date with the latest discoveries and advancements in this field.
Health Conditions Related to Genetic Changes
Genetic changes in the RAD21 gene can lead to various health conditions. These changes include deletions, duplications, and other variants. The RAD21 gene is involved in the cohesin complex, which plays a crucial role in cell division and DNA repair.
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One health condition related to changes in the RAD21 gene is the Cornelia de Lange syndrome (CdLS). CdLS is a rare genetic disorder that affects many parts of the body, causing developmental delays, distinctive facial features, and other physical abnormalities. Mutations in the RAD21 gene can lead to CdLS. Genetic testing can help in the diagnosis of CdLS.
Another health condition associated with changes in the RAD21 gene is trichorhinophalangeal syndrome type II (TRPS2). TRPS2 is characterized by abnormal hair growth, bone abnormalities, and distinctive facial features. RAD21 gene changes can result in TRPS2, and genetic testing can aid in the diagnosis of this condition.
For additional information on health conditions related to RAD21 gene changes, scientific articles and resources can be accessed. PubMed is a valuable resource that provides references to scientific articles on genetics and health conditions. OMIM is another database that provides information on genetic disorders and related genes. Genetic testing and counseling can provide further insights into the specific genetic changes and associated health conditions.
In summary, genetic changes in the RAD21 gene can result in various health conditions, including Cornelia de Lange syndrome and trichorhinophalangeal syndrome type II. Genetic testing and resources such as PubMed and OMIM can provide valuable information on these conditions and the associated genetic changes.
Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a genetic disorder caused by changes in the RAD21 gene. CdLS is a rare condition that affects multiple body systems and can result in a range of physical, cognitive, and behavioral abnormalities.
The RAD21 gene is one of many genes that code for proteins involved in the cohesin complex. The cohesin complex plays a critical role in ensuring proper chromosome segregation during cell division.
Mutations or variants in the RAD21 gene can lead to a reduced or abnormal function of cohesin, resulting in the characteristic features of CdLS. These features can include facial dysmorphism, growth retardation, limb abnormalities, and intellectual disability.
Diagnosis of CdLS is based on clinical features and can be confirmed through genetic testing. Testing for changes in the RAD21 gene can be done through various genetic testing methods, such as sequencing or deletion/duplication analysis.
There are several resources available for additional information on CdLS. The CdLS Foundation provides a comprehensive registry of individuals with CdLS and a range of educational materials. Scientific databases like PubMed can also be used to find articles and references related to CdLS.
In addition to the RAD21 gene, mutations in other genes such as NIPBL, SMC1A, and SMC3 have also been associated with CdLS. These genes are all part of the cohesin complex and play a role in chromosome segregation.
CdLS shares some overlapping features with other genetic conditions, such as trichorhinophalangeal syndrome type II. Genetic testing can help differentiate between these conditions and provide a more accurate diagnosis.
In summary, CdLS is a rare genetic disorder caused by changes in the RAD21 gene or other genes involved in the cohesin complex. Testing for these gene changes can help confirm a diagnosis of CdLS. Resources such as the CdLS Foundation and scientific databases like PubMed provide additional information and support for individuals with CdLS and their families.
Trichorhinophalangeal syndrome type II
Trichorhinophalangeal syndrome type II is a genetic condition that affects various body systems. It is caused by changes (mutations) in the RAD21 gene. This gene provides instructions for making a protein called cohesin, which plays a critical role in the structure and function of cells.
Trichorhinophalangeal syndrome type II is characterized by several features including sparse hair (tricho), a short or upturned nose (rhino), and abnormal fingers and toes (phalangeal). Other common signs and symptoms include intellectual disability, hearing loss, and reduced fertility.
Diagnosis of Trichorhinophalangeal syndrome type II can be done through genetic testing, specifically testing for changes in the RAD21 gene. These tests can be ordered by healthcare professionals and are available through various health information resources such as PubMed, OMIM, and other genetic testing databases.
Additional resources for information on Trichorhinophalangeal syndrome type II and related conditions can be found in scientific articles, references, and catalogs. The Cornelia de Lange Syndrome Foundation provides support and information for individuals and families affected by this syndrome.
It is important to note that Trichorhinophalangeal syndrome type II is a rare condition, and its prevalence in the general population is less known. However, research and medical databases such as PubMed provide information on the genetic changes associated with this syndrome.
In conclusion, Trichorhinophalangeal syndrome type II is a genetic condition caused by changes in the RAD21 gene. It affects various body systems and is characterized by specific physical features and intellectual disability. Genetic testing can be used to diagnose this syndrome, while additional resources such as scientific articles and support organizations provide further information and assistance.
Other Names for This Gene
The RAD21 gene is also known by the following names:
- Registry of Research on the RAD21 Gene
- RAD21 gene tests
- Trichorhinophalangeal syndrome type I RAD21 gene deletion variant
- Conditions related to RAD21 gene
- Cell cohesin genes
- Reduced copy number of RAD21 gene
- Genetic changes affecting RAD21 gene
- Cornelia de Lange syndrome related to RAD21 gene changes
Additional information on RAD21 gene can be found in the following resources:
- Genetic and Rare Diseases Information Center (GARD)
- Online Mendelian Inheritance in Man (OMIM)
- PubMed articles on RAD21 gene and related conditions
- Scientific research on RAD21 gene and health
- Literature on RAD21 gene listed in databases and catalogs
- Testing and diagnosis of diseases related to RAD21 gene
- References to RAD21 gene in medical and scientific publications
In summary, the RAD21 gene is also known by various other names and is related to a range of conditions and genetic changes in cells.
Additional Information Resources
- Tests for changes in the RAD21 gene:
- Genetic testing
- Copy number variant testing
- PubMed articles related to RAD21 gene:
- Resources for health conditions listed in association with RAD21 gene variant:
- OMIM (Online Mendelian Inheritance in Man)
- Langer-Giedion Syndrome Registry
- Cornelia de Lange Syndrome Registry
- Trichorhinophalangeal Syndrome Registry
- Scientific databases for genes related to RAD21:
- Genes and Diseases Database
- OMIM
- PubMed
- References on the RAD21 gene:
- PubMed articles on RAD21 gene
Tests Listed in the Genetic Testing Registry
Articles:
- Trichorhinophalangeal Syndrome Type II – RAD21 Gene
- Changes in the RAD21 gene are related to Trichorhinophalangeal Syndrome Type II.
- This syndrome is characterized by specific physical and developmental features.
- Cornelia de Lange Syndrome – RAD21 Gene
- Deletion or changes in the RAD21 gene can cause Cornelia de Lange Syndrome.
- This syndrome is associated with various health and developmental issues.
Genes:
- RAD21: This gene is involved in the regulation of cell division and plays a role in DNA repair.
Tests:
- The Genetic Testing Registry lists various tests for the RAD21 gene.
- These tests can identify changes or variants in the RAD21 gene.
- Tests listed in the registry can be used to diagnose conditions such as Trichorhinophalangeal Syndrome and Cornelia de Lange Syndrome.
- Additional information and resources for these tests can be found in scientific databases like OMIM and PubMed.
- References and relevant articles can be accessed through these resources.
Scientific Articles on PubMed
PubMed is a comprehensive database that contains a vast collection of scientific articles related to various fields of study. One important gene that has been extensively researched in the field of genetics is the RAD21 gene.
The RAD21 gene is involved in the formation of a protein complex known as cohesin, which plays a crucial role in cell division and DNA repair. Mutations or changes in this gene can lead to various conditions, including Cornelia de Lange syndrome and trichorhinophalangeal syndrome type II.
The PubMed database provides a valuable resource for researchers and healthcare professionals to access scientific articles on the RAD21 gene and its related conditions. By searching for keywords such as “RAD21 gene” or “cohesin,” users can find a wealth of information on the genetic changes, testing methods, and clinical manifestations associated with these conditions.
The PubMed database also allows users to explore additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry, which provide further information on the RAD21 gene and its related diseases. These resources include references to scientific articles, clinical tests, genetic changes, and variant information.
By utilizing PubMed and these related databases, researchers and healthcare professionals can stay up-to-date with the latest scientific findings on the RAD21 gene and its implications in various diseases and conditions.
References:
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- Online Mendelian Inheritance in Man (OMIM): https://omim.org/
- Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic variants associated with various health conditions. OMIM, or Online Mendelian Inheritance in Man, is a database that provides detailed information on genes and genetic conditions.
One of the genes listed in the catalog is the RAD21 gene. RAD21 is a cohesin gene that plays a key role in cell division and chromosome segregation. Variants in this gene can lead to different health conditions and syndromes, including Cornelia de Lange syndrome and trichorhinophalangeal syndrome type II.
The catalog provides information on the different genetic changes and variants associated with these conditions. It also includes references to scientific articles and publications related to each gene and condition, often linking to PubMed for additional information.
The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and understanding the underlying genetic causes of certain diseases. It provides a comprehensive list of genes and associated diseases, making it easier to navigate and access relevant information.
In addition to the RAD21 gene, the catalog includes many other genes associated with various health conditions. These genes are listed along with their respective genetic changes and conditions. By exploring the catalog, users can find information on the genetic tests available for each gene and condition, as well as resources and databases for further research.
The Catalog of Genes and Diseases from OMIM is a trusted and reliable source of information on genetic conditions. Its comprehensive listing of genes, genetic changes, and associated diseases makes it a valuable tool for researchers, healthcare professionals, and individuals seeking to learn more about genetic disorders and related testing options.
Gene and Variant Databases
For genes like RAD21, there are several databases available that provide valuable information on gene variants and their associated health conditions. These databases are important resources for geneticists, researchers, and healthcare professionals.
One of the well-known genetic databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes, their associated health conditions, and genetic changes that contribute to these diseases. It includes information on RAD21-related conditions such as Cornelia de Lange syndrome and Trichorhinophalangeal type II syndrome. OMIM lists the gene names, variant information, clinical features, and references to scientific articles and publications.
Another important database is the Human Gene Mutation Database (HGMD). HGMD is a comprehensive collection of genetic variants associated with human diseases. It provides information on RAD21 gene variants and their significance in various diseases. HGMD gives details on the type of genetic changes, the affected cells, and the health conditions linked to these changes.
The ClinVar database is also worthy of mention. It is a freely accessible database that provides information on genetic variants and their clinical significance. ClinVar includes data from various sources, such as research laboratories and clinical testing centers. It offers information on RAD21 gene variants and their association with different diseases and conditions. This database is useful for healthcare professionals involved in genetic testing and counseling.
Additionally, the National Institutes of Health (NIH) maintains a Genetic Testing Registry (GTR). GTR is a centralized resource that provides information on genetic tests available for different genes, including RAD21. It includes details on test names, testing laboratories, and conditions for which the tests are indicated. GTR also provides links to additional resources and references related to genetic testing for RAD21 and other genes.
In conclusion, the availability of gene and variant databases, such as OMIM, HGMD, ClinVar, and GTR, greatly contributes to our understanding of genes like RAD21 and their role in various diseases and conditions. These databases provide essential information on gene variants, their associated health conditions, and the scientific references supporting these associations. They serve as valuable resources for researchers, geneticists, and healthcare professionals involved in genetic testing, diagnosis, and counseling.
References
- Cornelia de Lange Syndrome Foundation: The official website of the Cornelia de Lange Syndrome Foundation provides information on the genetic conditions associated with the RAD21 gene. Available at: [website]
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases, including Trichorhinophalangeal Syndrome. Available at: [website]
- PubMed: PubMed is a database of scientific articles, where you can find research papers on the RAD21 gene and related conditions. Available at: [website]
- Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for the RAD21 gene and other related genes. Available at: [website]
- Catalog of Genes and Diseases: This catalog lists the genes associated with Trichorhinophalangeal Syndrome Type II, including the RAD21 gene, along with information on the associated conditions. Available at: [website]
- Additional Resources: For additional information on the RAD21 gene, related conditions, and genetic testing, please refer to the resources listed below:
- GeneTests: [website]
- The CoRDS Registry: [website]
- Health-Related Genes: [website]
