The CCND2 gene is a genetic sequence that encodes the protein cyclin D2. This protein plays a key role in the regulation of cell cycle progression. Mutations in the CCND2 gene have been associated with various diseases and conditions, including megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Information about the CCND2 gene can be found in various databases, such as the Online Mendelian Inheritance in Man (OMIM) and the National Center for Biotechnology Information (NCBI) Gene database. These databases provide researchers and clinicians with references to scientific articles, testings, and other resources related to the CCND2 gene and its related conditions.
The OMIM database, for example, lists the CCND2 gene as associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This genetic disorder is characterized by the abnormal development of the brain, including an increased size of the brain (megalencephaly), abnormal folding of the brain surface (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of fluid in the brain (hydrocephalus).
Health Conditions Related to Genetic Changes
Genetic changes in the CCND2 gene can lead to various health conditions. These changes can result in the buildup of certain proteins or affect the development of cells, leading to diseases and syndromes.
One example of a health condition related to genetic changes in the CCND2 gene is the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus (MPPH) syndrome. This syndrome is characterized by an enlarged brain (megalencephaly), abnormal brain folds (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of fluid in the brain (hydrocephalus).
There are other related genetic changes and health conditions that have been studied and documented. To find more information on these conditions, scientific articles, and tests available, there are several resources that can be utilized.
- Online Databases: Websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide comprehensive information on genes, genetic changes, and related health conditions. They offer a wealth of scientific references and articles to explore.
- Genetic Testing: Genetic testing can help identify specific genetic changes and variants in the CCND2 gene. This testing can be done through specialized laboratories or clinical testing centers.
- Genetic Registries: Genetic registries collect and store information on individuals with specific genetic changes or conditions. They can provide a platform for collaboration, information sharing, and further research.
- Cell and Protein Studies: Research on cells and proteins related to genetic changes in the CCND2 gene can provide valuable insights into the underlying mechanisms of health conditions. This can aid in the development of targeted treatments and interventions.
- Catalogs and Resources: The Genetic Testing Registry and other similar catalogs can provide additional information on available tests, laboratories, and resources related to genetic changes and health conditions.
It is important to consult with healthcare professionals and genetic counselors for proper diagnosis, testing, and management of health conditions related to genetic changes in the CCND2 gene. They can provide personalized guidance and support based on individual cases and needs.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a genetic condition characterized by the development of an abnormally large brain (megalencephaly), abnormal brain folds (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of fluid in the brain (hydrocephalus).
This syndrome is caused by changes in the CCND2 gene. The CCND2 gene provides instructions for making a protein that helps regulate cell division and growth. Mutations in this gene can disrupt the normal development of brain cells and lead to the characteristic features of this syndrome.
Information on this genetic condition can be found in various databases and resources, including OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic conditions. The CCND2 gene can be searched in OMIM to find articles and scientific references related to this syndrome.
Testing for CCND2 gene changes can be done through genetic testing laboratories that offer specific tests for this gene. These tests can identify changes in the gene that are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Healthcare providers can provide more information on genetic testing options.
In addition to the CCND2 gene, there may be other genes or genetic variants involved in the development of this syndrome. Ongoing research continues to uncover new genetic causes and related conditions.
The National Institutes of Health also maintains a genetic and rare diseases information center that provides resources and information on genetic conditions. Their website is a valuable resource for individuals and families seeking information on megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Overall, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic condition characterized by specific features in brain development and extra fingers or toes. Understanding the genetic basis of this syndrome can provide valuable insights into normal brain development and may lead to improved diagnostic and treatment approaches in the future.
Other Names for This Gene
- CCND2 gene
- diseases related to CCND2 gene
- scientific development of CCND2 gene
- changes in CCND2 gene
- genetic changes in CCND2 gene
- CCND2 gene and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- additional information on CCND2 gene listed in PubMed
- CCND2 gene testing
- references to CCND2 gene in the Catalog of Human Genes and Genetic Disorders (OMIM)
- CCND2 gene related conditions
- other genes related to CCND2 gene
- genetic information on CCND2 gene
- registry of genetic tests for CCND2 gene
- changes in CCND2 gene in cells
- variant of CCND2 gene
- articles on CCND2 gene
- tests for CCND2 gene related health conditions
- proteins affected by changes in CCND2 gene
- buildup of changes in CCND2 gene
Additional Information Resources
Here are some additional resources and databases that provide information on CCND2 gene:
- Gene: The CCND2 gene is listed in various genetic databases and resources, such as:
- Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on genetic conditions, including those associated with CCND2 gene variants.
- PubMed: PubMed is a scientific database that contains a vast collection of articles and research papers related to the CCND2 gene and its role in various diseases and conditions.
- GeneCards: GeneCards is a searchable database that provides comprehensive information on genes, including CCND2. It includes information on gene function, associated diseases, and protein interactions.
- Diseases: The CCND2 gene is associated with several diseases and conditions, including:
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- Other developmental disorders and syndromes
- Testing: Genetic testing can be done to detect changes in the CCND2 gene. This can help diagnose or determine the risk of certain genetic conditions.
- Additional Information: For more information on CCND2 gene and related topics, you can visit the following resources:
- The CCND2 Gene Entry in GeneCards
- The CCND2 Gene Entry in OMIM
- The CCND2 Gene Entry in PubMed
- References: Here are some scientific articles and references related to CCND2 gene:
- Article 1: Title of the article, authors, and publication details
- Article 2: Title of the article, authors, and publication details
- Article 3: Title of the article, authors, and publication details
These resources can provide you with valuable information on the CCND2 gene, its role in various diseases, and related scientific studies.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central repository of genetic tests and their associated information. These tests aim to identify changes in genes, proteins, and other genetic entities that may be related to various health conditions and diseases. In the context of the CCND2 gene, the GTR provides valuable resources and information on the tests available for the diagnosis of related conditions.
The GTR catalogs a range of tests that can help identify changes in the CCND2 gene and their potential impact on health. These tests may include:
- Variant analysis tests that detect specific changes or mutations in the CCND2 gene.
- Functional studies that assess the impact of CCND2 gene changes on cellular processes.
- Cell-based assays that measure the effects of CCND2 gene variants on cell development and function.
- Protein analysis tests that analyze the expression and function of CCND2 proteins.
By listing these tests, the GTR provides a comprehensive resource for healthcare professionals, researchers, and individuals seeking information on genetic testing for CCND2-related conditions. It allows users to access information on the tests themselves, as well as additional references and scientific articles related to these tests.
In addition to the GTR, other genetic databases and resources, such as OMIM and PubMed, also provide information on genetic testing for the CCND2 gene. These sources can help individuals and healthcare professionals stay up to date on the latest developments in CCND2 testing and research.
Understanding the tests listed in the Genetic Testing Registry and accessing the relevant resources can greatly contribute to the diagnosis and management of conditions associated with CCND2 gene changes. By leveraging these tests and the information they provide, healthcare professionals can better understand the genetic basis of diseases and develop targeted treatment strategies.
Scientific Articles on PubMed
PubMed is a valuable resource for scientific research in the field of health. It provides access to a vast collection of scientific articles on various topics, including the CCND2 gene. This gene is involved in the development and function of cells and has been linked to several conditions and syndromes.
PubMed lists numerous scientific articles that explore the role of the CCND2 gene in different health conditions. Some of the conditions and syndromes associated with changes in this gene include:
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- Cell growth and development
- Genetic changes and their impact
The OMIM database is a helpful resource in building up knowledge about the CCND2 gene. It provides essential information about genetic variations, protein names, and related diseases. The registry of genetic tests provides additional references for testing and related information.
PubMed offers a wide range of articles related to the CCND2 gene and its changes. These articles delve into various aspects of this gene, ranging from its role in cell development to the proteins it produces. They explore the impact of genetic changes in this gene on different health conditions.
Researchers can access further information on related genes, genetic tests, and databases that document changes in the CCND2 gene and other related genes. The catalog of related diseases and conditions can facilitate research in understanding the implications of changes in this gene.
In conclusion, PubMed provides a wealth of scientific articles on the CCND2 gene. Researchers can rely on this database to find information on health conditions associated with changes in this gene, as well as related genes, tests, and databases. The available articles contribute to a better understanding of the role of the CCND2 gene in various aspects of health and development.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a scientific registry that lists genetic and related health information for various conditions. OMIM, short for Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic conditions, genes, and genetic variants.
The catalog contains articles on different diseases, their development and associated changes in genes and proteins. It includes information on a wide range of genetic conditions, including rare disorders such as the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
In addition to the articles, the catalog provides references to other resources such as PubMed, where users can find more information on specific genes or diseases. It also lists genetic testing resources, where individuals can get tests done to identify genetic variants or changes in specific genes.
The catalog is organized in a user-friendly manner, with diseases and genes listed in alphabetical order. Each entry contains detailed information on the condition, including its symptoms, associated genes, and available testing options.
| Disease Name | Related Genes | Testing Options |
|---|---|---|
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | CCND2 gene | Genetic testing |
| Other Genetic Conditions | Various Genes | Genetic testing |
Researchers, healthcare professionals, and individuals interested in genetic conditions can use the catalog to access valuable information on genes and diseases. The catalog helps in understanding the molecular basis of diseases and aids in the development of scientific advancements and new treatments.
With the information provided in the catalog, researchers can study the underlying cellular and molecular processes contributing to the development of diseases. This knowledge can guide the development of targeted therapies and interventions.
The Catalog of Genes and Diseases from OMIM serves as a valuable resource for anyone interested in genetic health and diseases, providing a comprehensive and up-to-date collection of information on genes, genetic conditions, and related resources.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals involved in genetic testing and diagnosis. These databases provide a catalog of genes and variants associated with various genetic conditions, allowing users to access information about specific genes and their related variants.
One of the most well-known databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive collection of genes and genetic conditions, including the CCND2 gene. It offers information on the phenotype, clinical features, and genetic aspects of diseases, including the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus (MPPH) syndrome associated with CCND2.
In addition to OMIM, there are other databases and resources available for exploring genetic information. These include gene-specific databases, such as the CCND2 gene database, which focus on specific genes and their variants. These gene-specific databases provide detailed information on the gene’s structure, function, and associated diseases.
Furthermore, there are databases and registries that collect information on genetic variants and their association with diseases. These databases facilitate the sharing of variant data, aiding in the interpretation of genetic test results and the identification of disease-causing changes.
Scientists and healthcare professionals can also find references to scientific articles related to the gene and variant of interest in databases like PubMed. These articles provide additional information on the gene’s role in development and disease, as well as any related cellular and molecular changes.
Genetic testing laboratories often use these databases as resources when analyzing and interpreting genetic test results. By comparing a patient’s variant to those listed in the databases, scientists can determine the significance of the genetic change and its potential impact on health.
Overall, gene and variant databases play a crucial role in advancing our understanding of genetics and its impact on human health. These resources provide essential information on genes, variants, and associated diseases, enabling researchers and healthcare professionals to make informed decisions in clinical and research settings.
References
- OMIM: Online Mendelian Inheritance in Man. Available at: https://www.omim.org/
- Articles: Articles related to CCND2 gene listed in the OMIM catalog.
- References: Additional references related to CCND2 gene and its changes.
- Resources: Resources for genetic testing for changes in the CCND2 gene.
- Registry: Registry of variant changes in the CCND2 gene.
- Cells: Scientific articles on CCND2 gene expression in different cell types.
- Genes: Related genes and their association with CCND2 gene.
- Conditions: Conditions associated with changes in the CCND2 gene.
- Gene testing: Information about genetic testing for changes in the CCND2 gene.
- Buildup of genetic information: Tests to gather information about changes in the CCND2 gene.
- Changes in development: Effects of changes in the CCND2 gene on development.
- Proteins: Proteins produced by the CCND2 gene and their functions.
- Diseases: Diseases associated with changes in the CCND2 gene.
- Additional names: Other names commonly used for the CCND2 gene.
- Related databases: Databases containing information related to the CCND2 gene.
- Related syndromes: Syndromes associated with changes in the CCND2 gene.
- Cell health: Effects of changes in the CCND2 gene on cell health.
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: Syndrome caused by changes in the CCND2 gene.