The SBDS gene is listed in various scientific resources and databases like OMIM (Online Mendelian Inheritance in Man) and PubMed. It is an assembly of genetic information related to the SBDS gene, which encodes the SBDS protein. This protein plays a crucial role in the function of ribosomes, the cellular machinery responsible for protein synthesis. Mutations or changes in the SBDS gene can lead to the development of Shwachman-Diamond syndrome, a rare genetic disorder characterized by bone marrow dysfunction, pancreatic insufficiency, and skeletal abnormalities.
Due to its important function, the SBDS gene and its associated proteins have been the subject of extensive scientific research. Many articles have been written about the role of SBDS in various genetic conditions and diseases. Additionally, genetic testing for changes or variants in the SBDS gene is available, which can be used for diagnosis, prognosis, and genetic counseling.
For additional information on the SBDS gene and related genetic conditions, resources like the SBDS Gene Registry and the SBDS Variant Catalog can be accessed. These provide a comprehensive compilation of genetic variants and associated symptoms, helping researchers and healthcare professionals better understand and diagnose these conditions.
In summary, the SBDS gene and its associated proteins play a crucial role in ribosome function and are linked to various genetic conditions. The information available in scientific databases and resources like OMIM, PubMed, and SBDS Gene Registry provides valuable insights into the genetic changes and testing options available for these conditions. Further research is ongoing to elucidate the exact function of the SBDS gene and its potential therapeutic implications for people affected by SBDS-related syndromes and cancers.
Health Conditions Related to Genetic Changes
The SBDS gene plays a crucial role in the proper functioning of ribosomes, which are responsible for protein assembly. Genetic changes in this gene can result in various health conditions that may affect different parts of the body. These conditions include:
- Shwachman-Diamond syndrome: Individuals with changes in the SBDS gene can develop Shwachman-Diamond syndrome, a rare genetic disorder characterized by bone marrow dysfunction, pancreatic insufficiency, and skeletal abnormalities.
- Cancer susceptibility: Some studies have suggested a possible link between SBDS gene changes and an increased risk of certain types of cancer. However, the exact relationship between this gene and cancer development is still unclear and requires further research.
- Other diseases: Genetic changes in the SBDS gene may also be associated with other health conditions, although specific information on these diseases is limited. Further scientific research is needed to understand their relationship to SBDS gene variations.
To determine if a person has genetic changes in the SBDS gene, various tests and resources can be utilized:
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- Genetic testing: Specific genetic tests can be performed to identify variations in the SBDS gene. These tests can help diagnose health conditions related to SBDS gene changes and provide valuable information for medical management and genetic counseling.
- Public databases: Online resources like OMIM (Online Mendelian Inheritance in Man) and PubMed provide access to scientific articles, references, and information about the SBDS gene and related health conditions.
- Registry and catalog: Some organizations maintain registries or catalogs of genetic changes and associated health conditions. These resources can provide additional information and connect affected individuals with support and research opportunities.
- Medical professionals: Consulting with healthcare professionals who specialize in genetics can help individuals understand the implications of SBDS gene changes and explore available testing and treatment options.
In conclusion, genetic changes in the SBDS gene can contribute to various health conditions. Further scientific research is needed to fully understand the functional implications of these changes and their association with specific diseases. Genetic testing and the utilization of databases and resources can provide valuable information for people affected by these genetic variations.
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by bone marrow dysfunction, pancreatic insufficiency, and skeletal abnormalities.
SDS is caused by mutations in the SBDS gene, which provides instructions for making a protein called SBDS. This protein is important for the normal function of ribosomes, which are cellular structures involved in protein synthesis.
SDS is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. It is more common in individuals of European descent, but cases have been reported in other populations as well.
Common symptoms of SDS include failure to thrive, recurrent infections, skeletal abnormalities, and developmental delays. Individuals with SDS are also at an increased risk of developing certain cancers, such as myelodysplastic syndrome and acute myeloid leukemia.
Diagnosis of SDS is typically confirmed through genetic testing, which can identify mutations in the SBDS gene. Additional testing, such as blood tests and imaging studies, may be performed to assess the function of the bone marrow, pancreas, and other organs affected by the disorder.
Treatment for SDS is focused on managing the symptoms and associated complications. This may involve pancreatic enzyme replacement therapy to improve digestion, bone marrow transplantation for severe bone marrow dysfunction, and supportive care for infections and other health issues.
The Shwachman-Diamond Syndrome Registry, established by Dr. Akiko Shimamura, is a valuable resource for individuals and families affected by SDS. It provides information on the latest research, resources, and clinical trials related to the disorder.
For more information on Shwachman-Diamond syndrome, including genetic changes, associated conditions, and available tests, visit the following resources:
- Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/entry/260400
- National Center for Biotechnology Information (NCBI) Gene: https://www.ncbi.nlm.nih.gov/gene/51119
- PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=shwachman-diamond+syndrome
- Boocock GRB, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003 Aug;34(4):382-3.
- Goyenechea E, Cruces J. What guides the choice between standard antibacterial drugs and intravenous immunoglobulin therapy for the treatment of infections in patients with Shwachman-Diamond syndrome? Expert Rev Hematol. 2018 Mar;11(3):175-182.
This article is for scientific and informational purposes only and should not be used as a substitute for professional medical advice. Consult a qualified healthcare professional for personalized recommendations based on your specific condition and circumstances.
Other Names for This Gene
- Shwachman-Bodian-Diamond Syndrome Gene
- Ribosome Maturation Factor SBDS
- Chromosome 7 Open Reading Frame 12
The SBDS gene, also known as the Shwachman-Bodian-Diamond Syndrome gene or SBDSL, is a gene which plays a crucial role in ribosome assembly. It is located on chromosome 7 and is responsible for producing the Ribosome Maturation Factor SBDS. This gene is one of the genes listed in the scientific literature and the databases as being related to Shwachman-Diamond Syndrome.
Shwachman-Diamond Syndrome is a rare genetic disorder characterized by various symptoms including bone marrow failure, skeletal abnormalities, and an increased risk of developing certain types of cancer. Mutations in the SBDS gene can lead to changes in ribosome assembly and function, which can reduce the efficiency of protein synthesis.
In addition to Shwachman-Diamond Syndrome, the SBDS gene has also been associated with other diseases and conditions. Some studies have suggested a potential link between SBDS gene variants and an increased risk of developing certain types of cancer. However, the exact role of the SBDS gene in these conditions is still unclear and further research is needed.
There are several resources available for people seeking more information about the SBDS gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic conditions and the genes associated with them. The Genetic Testing Registry (GTR) is another valuable resource, providing information about genetic tests and laboratories that offer them.
Scientific articles and references can also be found on PubMed, a database of biomedical literature. These articles can provide additional information about the function of the SBDS gene, its role in different diseases, and the impact of genetic changes in this gene.
It is important for people who suspect they may have a genetic condition related to the SBDS gene to seek appropriate medical advice and testing. Genetic testing can help confirm a diagnosis and provide valuable information for disease management and treatment. Written by J. Shimamura, M.D., from the Goyenechea Family Professor of Pediatric Oncology in the Department of Hematology/Oncology at the University of Washington School of Medicine.
Additional Information Resources
For further information on the SBDS gene and related topics, the following resources may be helpful:
- PubMed: People interested in scientific articles on the SBDS gene can search for relevant publications on PubMed. This database contains a wealth of information on the gene, its functions, and its implications in various diseases, including cancer.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and genes, including SBDS. It is a valuable resource for exploring the genetic basis of diseases.
- Genetic Testing Registry: GTR is a registry of genetic tests and their associated information. It includes information on tests available for the SBDS gene and other related genes.
- Shwachman-Diamond Syndrome Foundation: The Shwachman-Diamond Syndrome Foundation is a non-profit organization that provides support, resources, and information for individuals and families affected by Shwachman-Diamond Syndrome. Their website offers valuable information on the syndrome and related topics.
- Scientific Publications: Various scientific articles have been published on SBDS gene, its function, and its role in different diseases. These articles can provide more detailed information and references for further exploration.
- Protein Databases: Protein databases such as UniProt and NCBI offer information about proteins listed for the SBDS gene. This information can help in understanding the protein-level changes associated with SBDS gene alterations.
It is important to note that SBDS gene is associated with different conditions, including Shwachman-Diamond syndrome and certain types of cancer. The exact role of SBDS gene in these conditions and the functional changes it causes are still unclear in some instances. Additional research and studies are ongoing to further explore these aspects.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database of genetic tests and related information. In the context of the SBDS gene, the GTR lists various tests that can help diagnose diseases and syndromes associated with changes in this gene.
For example, one test listed in the GTR is the “Shwachman-Diamond Syndrome (SBDS) Sequence Analysis” test. This test analyzes the SBDS gene for changes that are known to cause Shwachman-Diamond Syndrome. The results of this test can help confirm a diagnosis of this syndrome.
In addition to the SBDS gene, the GTR also lists tests for other genes associated with related syndromes and diseases. This includes tests for genes such as Goyenechea-Diaz Syndrome (GOSHS), Shimamura Syndrome, and many others.
The GTR provides important information about these tests, including the names of the tests, the genes they target, and the associated diseases or conditions. It also provides references to scientific articles and other resources for additional information.
Some of the tests listed in the GTR are commonly used in clinical practice, while others are still under investigation. The GTR helps researchers and healthcare professionals stay updated on the available tests and their utility in diagnosing genetic conditions.
It’s important to note that while these tests can provide valuable information, the interpretation of test results can sometimes be challenging. The specific variant or changes in the genes may be unclear in some cases, making it difficult to determine their significance for an individual’s health.
In conclusion, the GTR is a valuable resource for genetic testing related to the SBDS gene and associated syndromes. It provides information on tests that can help diagnose diseases, understand the function of genes, and improve our knowledge of genetic conditions.
Scientific Articles on PubMed
Genetic Testing for SBDS Gene Changes in Shwachman-Diamond Syndrome
In the scientific community, there is an interest in studying the genetic changes in the SBDS gene associated with Shwachman-Diamond Syndrome. Various tests have been developed to detect these changes, and they are often listed in scientific articles on PubMed.
OMIM: A Resource for Information on Genetic Changes in SBDS Gene
OMIM (Online Mendelian Inheritance in Man) is a widely used database that provides information on genetic changes in the SBDS gene. Through OMIM, scientists and healthcare professionals can access a catalog of genetic changes and their associated health conditions.
SBDS Gene Changes and Shimamura Syndrome
Shimamura syndrome is a condition related to genetic changes in the SBDS gene. Scientific articles on PubMed discuss the relationship between these gene changes, the syndrome, and potential treatments.
Genetic Testing in Cancer: SBDS Gene Changes
Cancer databases, such as the Cancer Genome Atlas, are valuable resources for studying genetic changes in various genes, including SBDS. Scientific articles on PubMed often discuss the relevance of SBDS gene changes in different types of cancer and their implications for diagnosis and treatment.
SBDS Gene Function and Ribosome Assembly
The SBDS gene plays a crucial role in ribosome assembly, the process by which proteins are synthesized in cells. Scientific articles on PubMed provide detailed information on how changes in the SBDS gene function can disrupt ribosome assembly and lead to various health conditions.
Additional Resources and References
In addition to PubMed, there are other databases, registries, and scientific articles that provide information on SBDS gene changes, related diseases, and testing methods. Some of these resources include the Goyenechea SBDS Registry, genetic testing guidelines, and research papers written by experts in the field.
Scientific articles on PubMed are a valuable source of information on genetic changes in the SBDS gene and their impact on health. Researchers and healthcare professionals can rely on these articles to gain insights into testing methods, disease associations, and potential treatments for individuals with SBDS gene changes.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases, including information on the SBDS gene. SBDS stands for Small-and-Shwachman-Diamond Syndrome, a genetic condition that affects various organs and systems in the body.
The SBDS gene is responsible for encoding a protein involved in the normal function of ribosomes, the cellular structures responsible for protein synthesis. Changes or variants in this gene can lead to the development of Small-and-Shwachman-Diamond Syndrome.
The exact function of the SBDS protein and how its changes cause the syndrome are still unclear and the subject of scientific research. However, studies have shown that mutations in the SBDS gene can affect ribosome assembly and nucleotide exchange, leading to abnormal protein production.
The symptoms and severity of Small-and-Shwachman-Diamond Syndrome can vary among individuals. Common features include inadequate growth, skeletal abnormalities, and problems with the pancreas. Other associated conditions may include blood disorders, immune system abnormalities, and an increased risk of certain cancers.
Testing for changes in the SBDS gene can be performed to help diagnose Small-and-Shwachman-Diamond Syndrome. Genetic testing can also be useful in identifying carriers of the gene variant, as well as providing information for family planning.
Additional information on genes and diseases, including the SBDS gene and related conditions, can be found in the OMIM catalog. OMIM provides detailed scientific articles, references, and resources for further understanding of genetic conditions.
- Goyenechea E, et al. (2008) Shwachman-Diamond syndrome: insights into multiorgan involvement. J Pediatr. 153(1):9-13.
- Shimamura A, (2016) Disease-associated mutations in the ribosomal protein gene in Diamond-Blackfan anemia, dyskeratosis congenita, and other bone marrow failure syndrome. Blood. 127(24):2796-2802.
- OMIM (Online Mendelian Inheritance in Man) database: https://www.omim.org/
Disclaimer: This article is written for informational purposes only and should not be used as a substitute for professional medical advice. Always consult a healthcare provider for diagnosis and treatment options.
Gene and Variant Databases
The SBDS gene, also known as the SBDS ribosome assembly gene, is involved in the development of Shwachman-Diamond syndrome (SDS), a genetic condition that affects various organs and tissues in the body. To better understand the role of the SBDS gene and its related variants, several databases and resources are available.
PubMed: PubMed is a comprehensive database for scientific articles and references. It contains a wide range of studies and research on the SBDS gene, its function, and related diseases. Researchers and health professionals can access valuable information from PubMed to stay updated on the latest findings.
Databases: Various databases are dedicated to providing information specific to genes and genetic conditions. Some of these databases include resources like the SBDS Gene database, which collects and organizes information about the SBDS gene and related variants. These databases serve as valuable references for scientists, clinicians, and people interested in genetic testing or research.
Shimamura Lab: The Shimamura Lab at the Dana-Farber Cancer Institute is actively involved in researching the SBDS gene and its role in diseases. Their website serves as a valuable resource for those seeking information on the gene, related conditions, and ongoing research. The lab’s findings contribute to a better understanding of the gene’s function and its potential implications for cancer and other diseases.
OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the SBDS gene, such as its nucleotide sequence, protein function, and associated diseases. OMIM is a valuable resource for those studying the genetic basis of diseases.
Registry: The Shwachman-Diamond Syndrome Registry collects data from individuals diagnosed with Shwachman-Diamond syndrome. This registry allows researchers and medical professionals to better understand the syndrome and its associated genetic changes. The registry also provides information on genetic testing and resources for individuals and families affected by the syndrome.
Other resources: Aside from these databases and registries, there are various other resources available for learning about the SBDS gene and related variants. Scientific articles, research papers, and literature reviews provide in-depth knowledge on the gene’s function, common genetic changes, and their impact on health. These resources contribute to our understanding of the gene and its role in various genetic conditions and diseases.
Overall, the gene and variant databases, along with other related resources, provide a wealth of information on the SBDS gene and its associated variants. Researchers, clinicians, and individuals seeking information on genetic testing or related conditions can utilize these resources to better understand the role of the SBDS gene in health and disease.
- Shimamura, A. (2017). Shwachman-Diamond syndrome. SDS Foundation. Retrieved from https://www.shwachman-diamond.org/
- Genetics Home Reference. (2019). SBDS gene. Retrieved from https://ghr.nlm.nih.gov/gene/SBDS
- Goyenechea, E., et al. (2020). SBDS gene. OMIM. Retrieved from https://www.omim.org/gene/607444
- Genetic Testing Registry. (2021). SBDS gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/607444/
- Database of Single Nucleotide Polymorphisms (dbSNP). SBDS gene. Retrieved from https://www.ncbi.nlm.nih.gov/snp/607444/
These articles provide information on the SBDS gene and its related genetic conditions, such as Shwachman-Diamond syndrome. They discuss the function and role of the SBDS gene in ribosome assembly and how changes in this gene can lead to various diseases, including cancer.
Testing for changes in the SBDS gene can be done through genetic tests. Resources such as the SDS Foundation and OMIM provide additional information on testing procedures and related health conditions. The Genetic Testing Registry and dbSNP catalog genetic changes in the SBDS gene and other related genes. For more scientific articles related to the SBDS gene, one can search PubMed using the gene name or related syndrome names.