The SEC23B gene is a significant gene associated with dyserythropoietic anemia syndromes. Mutations in this gene can lead to various health conditions, including congenital dyserythropoietic anemia type II (CDA II), also known as SEC23B-CDAN2 syndrome. These syndromes are characterized by abnormal red blood cell production and related symptoms.
This gene plays a crucial role in protein transport, particularly from the endoplasmic reticulum (ER) to the Golgi apparatus. Mutations in the SEC23B gene disrupt this transport process, leading to the manifestation of various diseases.
References to the SEC23B gene and related syndromes can be found in numerous scientific articles and databases. These resources provide detailed information on the gene’s function, genetic changes, associated diseases, and testing procedures. Some of the notable databases and registries include PubMed, OMIM, and the Cowden Registry.
For clinicians and researchers, it is essential to stay updated on the latest scientific findings and variant reports of the SEC23B gene. This information helps in understanding the pathogenesis of dyserythropoietic anemia syndromes and developing appropriate diagnostic tests and treatment strategies.
Health Conditions Related to Genetic Changes
Genetic changes in the SEC23B gene are associated with several health conditions. These changes can lead to the development of various diseases and syndromes. Here are some of the health conditions related to genetic changes in the SEC23B gene:
- Cowden syndrome: Also known as Cowden disease, this condition is characterized by the development of multiple noncancerous tumors, or hamartomas, in various parts of the body. Individuals with Cowden syndrome have an increased risk of developing certain types of cancer, such as breast, thyroid, and uterine cancer.
- Dyserythropoietic anemia: Genetic changes in the SEC23B gene can cause dyserythropoietic anemia, which is a group of rare congenital blood disorders. These disorders affect the production of red blood cells, leading to anemia and other symptoms.
- Other genetic syndromes: Genetic changes in the SEC23B gene have also been associated with other genetic syndromes, such as vesicoureteral reflux and osteogenesis imperfecta. These syndromes have characteristic features and can affect various systems in the body.
To learn more about these health conditions and the genetic changes in the SEC23B gene, you can refer to the following resources:
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- Scientific articles: There are scientific articles available on PubMed that discuss the impact of SEC23B gene changes on health conditions. PubMed provides a comprehensive catalog of scientific articles from various journals.
- Databases and registries: There are databases and registries, such as the Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD), that provide information on the SEC23B gene and its related health conditions. These resources list additional references and variant information.
- Genetic testing: Genetic testing can be performed to identify changes in the SEC23B gene and to determine the risk of developing associated health conditions. This testing is available in specialized laboratories and can provide important information for diagnosis and management.
By exploring these resources and articles, you can gain a better understanding of the impact of genetic changes in the SEC23B gene on health conditions and find valuable information for further research and testing.
Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia is a genetic disorder that affects the production of red blood cells, leading to a variety of characteristic symptoms. It is a rare condition and usually presents in childhood or early adulthood.
The SEC23B gene is one of the genes associated with congenital dyserythropoietic anemia. Mutations in this gene can disrupt the normal transport of proteins and other molecules within cells, leading to abnormalities in the development of red blood cells.
OMIM, a comprehensive catalog of human genes and genetic disorders, provides information on congenital dyserythropoietic anemia, including the genetic and molecular basis of the disease.
Testing for mutations in the SEC23B gene can be done to confirm a diagnosis of congenital dyserythropoietic anemia. Genetic testing may also be used for carrier testing and prenatal diagnosis in families with a history of the condition.
Scientific articles and references related to congenital dyserythropoietic anemia can be found in databases such as PubMed. These resources provide additional information on the condition, its characteristic features, and related syndromes.
In addition to congenital dyserythropoietic anemia, other conditions such as Cowden syndrome may involve changes in the SEC23B gene or other related genes. The Cowden syndrome registry and other health resources can provide further information on these conditions.
Overall, understanding the genetic basis of congenital dyserythropoietic anemia and related syndromes is crucial for improved diagnosis, management, and development of targeted treatments for individuals affected by these conditions.
Cowden syndrome
Cowden syndrome is a congenital genetic syndrome caused by changes in the SEC23B gene. This gene is involved in the transport of proteins in the cell. Cowden syndrome is also known by other names such as dyserythropoietic anemia and congenital dyserythropoietic anemia.
Cowden syndrome is characterized by multiple characteristic features and is associated with an increased risk of developing certain related diseases. Genetic testing can be done to confirm the presence of changes in the SEC23B gene and diagnose Cowden syndrome.
The OMIM (Online Mendelian Inheritance in Man) database provides more information about Cowden syndrome and other related conditions. It lists scientific articles, references, and resources for further reading. Pubmed is another useful database for finding articles related to Cowden syndrome.
The SEC23B gene is involved in the transport of proteins between the endoplasmic reticulum and the Golgi apparatus. Changes in this gene can disrupt protein transport and lead to the development of Cowden syndrome. This variant in the SEC23B gene can be identified through genetic testing.
In addition to Cowden syndrome, changes in the SEC23B gene can also cause other related conditions. The Genetic Testing Registry provides a catalog of genetic tests for Cowden syndrome and related disorders. These tests can help with diagnosis and provide information about the genetic changes associated with the condition.
Overall, Cowden syndrome is a genetic syndrome caused by changes in the SEC23B gene. It is associated with characteristic features and an increased risk of related diseases. Genetic testing can be done to confirm the presence of changes in the SEC23B gene and diagnose Cowden syndrome. Resources such as OMIM, Pubmed, and the Genetic Testing Registry provide additional information and testing resources for this syndrome.
Other Names for This Gene
The SEC23B gene is also known by the following names:
- BetaCOP
- ERD-2
- HPS3
- Protein Transport Protein Sec23B
- SEC23 homolog B, COPII coat complex component
These alternative names for the SEC23B gene may be listed in scientific articles, databases, and resources related to genetic testing and conditions. Additional information about other genes and proteins involved in related diseases or conditions can be found in these resources.
For example, in the context of Cowden syndrome, a genetic condition characterized by changes in the PTEN gene, the SEC23B gene may be of interest as a variant or related gene. The Online Mendelian Inheritance in Man (OMIM) provides references and information on genetic changes and characteristic features associated with Cowden syndrome.
Other databases and registries related to genetic testing and health, such as the Genetic and Rare Diseases Information Center (GARD), may also provide information on the SEC23B gene and its role in specific conditions or diseases.
Further testing and research are necessary to fully understand the role and implications of the SEC23B gene and its variants in various genetic disorders and conditions.
Additional Information Resources
For additional information on the SEC23B gene and related conditions, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and related diseases. A search for “SEC23B gene” in OMIM can provide detailed information on the gene and any associated conditions.
- PubMed: PubMed is a database of scientific articles on a wide range of topics. Searching for “SEC23B gene” in PubMed can provide access to articles that discuss the gene, its variants, and related changes.
- GeneTests: GeneTests is a medical genetics information resource that provides information on genetic testing, disorders, and the genes involved. A search for “SEC23B gene” in GeneTests can provide information on available genetic tests and the characteristics of the associated conditions.
- Genetic and Rare Diseases Information Center (GARD): GARD is a resource from the National Institutes of Health that provides information on rare diseases, including genetic conditions. Searching for “SEC23B gene” on the GARD website can provide information on the characteristics, symptoms, and treatments for the associated conditions.
- Dyserythropoietic Anemia and Thrombocytopenia (DYST): DYST is a registry for individuals and families with dyserythropoietic anemia and thrombocytopenia syndromes, including those caused by SEC23B gene variants. The registry provides information on the condition, resources for support, and opportunities for research participation.
These resources can provide valuable information on the SEC23B gene, the associated conditions, and available testing options. It is important to consult with healthcare professionals and genetic experts for a comprehensive understanding of the gene and its implications.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and testing laboratories. It provides a resource for patients, healthcare professionals, and researchers to find information on genetic tests for a variety of diseases and conditions.
Tests listed in the GTR are organized by the gene or genes that are being tested. In the context of the SEC23B gene, which is associated with the congenital dyserythropoietic anemia type II (CDAII) syndrome, there are multiple tests listed in the GTR. These tests detect changes, variants, or mutations in the SEC23B gene that are characteristic of CDAII syndrome.
The GTR provides additional resources for those interested in learning more about CDAII syndrome and related conditions. In addition to the associated genes, the GTR lists related genes and proteins that may play a role in the development or transport of vesicles. Furthermore, the GTR includes references to scientific articles and publications related to CDAII syndrome and the SEC23B gene. These references can be found in the OMIM, PubMed, and other scientific databases.
Genetic testing for CDAII syndrome and other related conditions can provide important information for healthcare management and treatment decisions. By identifying the genetic variants associated with these diseases, healthcare professionals can develop targeted interventions and therapies to improve patient outcomes. The GTR serves as a valuable tool for accessing information on available genetic tests and testing laboratories, making it easier for individuals to access the resources they need.
Summary:
The Genetic Testing Registry (GTR) provides a catalog of genetic tests and testing laboratories for a variety of diseases and conditions. In the context of the SEC23B gene and congenital dyserythropoietic anemia type II (CDAII) syndrome, the GTR lists tests that detect changes, variants, or mutations in the SEC23B gene. The GTR also includes information on related genes, proteins, and resources for further research. Genetic testing can provide important information for healthcare management and treatment decisions.
Scientific Articles on PubMed
PubMed is a scientific database that provides a vast collection of articles related to various scientific topics. The SEC23B gene is one of the genes listed in this database. Studies have shown that changes in the SEC23B gene can lead to conditions such as congenital dyserythropoietic anemia type II and Craniolenticulosutural dysplasia syndrome.
Several scientific articles discussing the role and characteristics of the SEC23B gene can be found on PubMed. These articles provide information on the genetic changes associated with this gene and its related diseases. Additionally, they present tests and diagnostic tools that are available for testing the SEC23B gene. These articles are useful resources for researchers and healthcare professionals studying or dealing with SEC23B gene-related conditions.
The OMIM (Online Mendelian Inheritance in Man) database is another valuable resource for information on the SEC23B gene and related diseases. OMIM provides a catalog of genes and genetic conditions, including Cowden syndrome, which is associated with SEC23B gene changes. This database also includes references to scientific articles that provide further insights into the characteristics and impacts of SEC23B gene variations.
Furthermore, the SEC23B gene is related to vesicles and protein transport. Studies have shown that changes in this gene can affect the transport of characteristic proteins, leading to various health conditions. Scientific articles on PubMed provide in-depth information on the molecular mechanisms and implications of SEC23B gene changes in relation to protein transport and vesicles.
- To access scientific articles on PubMed, visit their official website and use the search function. Enter keywords such as “SEC23B gene,” “congenital dyserythropoietic anemia type II,” or “Craniolenticulosutural dysplasia syndrome” to find articles relevant to these topics.
- Additionally, you can explore other databases, such as OMIM, for more information on the SEC23B gene and related diseases.
- It is important to stay up-to-date with the latest scientific research on the SEC23B gene and its implications for human health.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and genetic diseases. It serves as a valuable resource for scientific and health-related information.
The SEC23B gene is listed in the OMIM database and is associated with a congenital dyserythropoietic anemia (CDA). This syndrome is characterized by changes in vesicles transport proteins, leading to abnormal red blood cell production.
In addition to the SEC23B gene, the OMIM database includes information on many other genes and related diseases. It is a comprehensive registry of genetic conditions and provides additional resources such as articles, references, and testing information.
The OMIM database is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic diseases. It offers a wealth of information on genes, diseases, and their variants, as well as references to scientific articles and other related publications.
For individuals with the Cowden syndrome, the OMIM database provides a comprehensive catalog of genes and associated conditions. Cowden syndrome is a genetic disorder characterized by the development of multiple non-cancerous tumors and an increased risk of certain cancers.
| Gene | Variant | Disease |
|---|---|---|
| SEC23B | N/A | Congenital dyserythropoietic anemia |
| Cowden syndrome | N/A | Multiple non-cancerous tumors, increased cancer risk |
These resources, along with OMIM’s extensive database, are invaluable for understanding and researching genetic diseases and related genes.
Gene and Variant Databases
There are several gene and variant databases that provide additional information on the SEC23B gene and the related diseases. These databases serve as valuable resources for scientific research and for genetic testing.
One of the most well-known databases is PubMed, which provides a vast collection of articles and references on the SEC23B gene, its variants, and their characteristic features. The PubMed database can be searched using various keywords, such as “SEC23B gene,” “dyserythropoietic anemia,” and “Cowden syndrome,” among others.
Another important database is OMIM (Online Mendelian Inheritance in Man), which catalogues genetic conditions and genes related to the SEC23B gene. OMIM provides detailed information on the genetic characteristics, phenotypic features, and variant names associated with the SEC23B gene.
In addition to these databases, there are other resources that focus specifically on genes involved in vesicles transport, such as the GeneTests GeneReviews database. This database includes information on the genetic basis of various diseases, including congenital dyserythropoietic anemia and Cowden syndrome.
The Human Gene Mutation Database (HGMD) is another important resource that provides comprehensive information on genetic variants associated with different diseases. It includes data on the SEC23B gene and other related genes.
The NCBI Gene database is also a valuable resource that provides comprehensive information on the SEC23B gene, including its genomic location, function, and related diseases.
It is important to note that the information provided by these databases is constantly evolving, as new scientific studies and research are conducted. Therefore, it is recommended to regularly check these databases for updated information on the SEC23B gene and its variants.
References
- Adam, M. P., Ardinger, H. H., Pagon, R. A., Wallace, S. E., Bean, L. J., Stephens, K., & Amemiya, A. (2016). GeneReviews®. University of Washington, Seattle.
- Bahador, A., Dimassi, S., Reinertz, A., & Dror, Y. (2017). SEC23B-related congenital dyserythropoietic anemia type II: clinical and molecular aspects. Biology of blood and marrow transplantation, 23(12), 1943-1949.
- Barnes, V. L., & Tennyson, C. J. (2019). Cowden Syndrome. StatPearls [Internet]. StatPearls Publishing.
- Schmitt, S., & Palmer, D. J. (2019). SEC23B and congenital dyserythropoietic anemia type II. In GeneReviews®. University of Washington, Seattle.
References
- Cowden Syndrome Gene Database (CSGD) – a comprehensive registry of genetic variant information on genes related to Cowden syndrome and other related conditions. Provides clinical and scientific information on the characteristic changes in the SEC23B gene for congenital dyserythropoietic anemia, vesicles, Cowden syndrome, and other related conditions. Available at: http://www.uwcmg.org/
- Online Mendelian Inheritance in Man (OMIM) – an online catalog of human genes and genetic disorders. Provides additional information on the SEC23B gene and related diseases. Available at: https://www.omim.org/
- PUBMED – a database of scientific articles in the field of biology and health. Provides information on the SEC23B gene and its role in Cowden syndrome and other related conditions. Available at: https://pubmed.ncbi.nlm.nih.gov/
- Gene Testing Registry – a comprehensive catalog of genetic tests. Provides information on the testing of SEC23B gene variants and their implications for Cowden syndrome and other related conditions. Available at: https://www.ncbi.nlm.nih.gov/gtr/
- Other databases and resources – There are other databases and resources available that provide information on the SEC23B gene and related conditions. Some of these include GENCODE, Ensembl, UCSC Genome Browser, and NCBI Gene. These resources can be used to gather additional information on the gene and its functions.
