The RPS26 gene is a scientific division of the blood registry, which is a database of genetic conditions. It is related to diseases such as Diamond-Blackfan anemia, a disorder of the ribosomal genes. Information on this gene can be found in databases such as OMIM and PubMed, which provide additional resources and references for further research.

The RPS26 gene is associated with changes in ribosomes, which are essential for protein synthesis and cell function. Variants in this gene have been linked to Diamond-Blackfan anemia and other ribosomopathies, which are disorders caused by defective ribosome function.

Testing for genetic changes in the RPS26 gene can be done through various genetic tests available. These tests can provide important information for diagnosis and management of diseases related to this gene.

In summary, the RPS26 gene is an important gene associated with Diamond-Blackfan anemia and other ribosomopathies. Scientific databases such as OMIM and PubMed provide additional information and resources for further research on this gene. Genetic testing can be done to detect changes in the RPS26 gene and provide important information for the diagnosis and management of related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the RPS26 gene can lead to various health conditions. This gene is involved in the production of ribosomal proteins, which are essential for the normal functioning of ribosomes, the cellular structures responsible for protein synthesis.

One of the conditions associated with changes in the RPS26 gene is Diamond-Blackfan anemia (DBA), a rare inherited blood disorder that affects the production of red blood cells. DBA is characterized by a failure of the bone marrow to produce an adequate number of red blood cells, leading to symptoms such as fatigue, pale skin, and an increased risk of infections.

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Ribosomopathies are a group of disorders that involve defects in the ribosome assembly and function. Changes in genes encoding ribosomal proteins, including RPS26, have been implicated in ribosomopathies. These conditions can affect various organs and tissues in the body, leading to a range of symptoms and health problems.

If you suspect a genetic change in the RPS26 gene or any other gene, genetic testing can help confirm the diagnosis. There are several scientific databases and resources available to access information on genetic changes associated with health conditions. Some of these resources include Online Mendelian Inheritance in Man (OMIM), PubMed, and the Genetic Testing Registry.

These databases provide access to scientific articles, references, and additional information on genes, diseases, and health conditions related to genetic changes. They can be helpful in understanding the impact of specific variants or changes in the RPS26 gene and other genes on an individual’s health.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis and appropriate management of genetic conditions. They can provide guidance on genetic testing, treatment options, and support for individuals and families affected by these conditions.

Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA) is a rare blood disorder that affects the production of red blood cells. It was first described in 1938 by Louis K. Diamond and Kenneth D. Blackfan, who were physicians at the Boston Children’s Hospital. DBA is characterized by a failure of the bone marrow to produce red blood cells, resulting in a low red blood cell count (anemia).

DBA is usually diagnosed in infancy or early childhood, although it can sometimes be diagnosed in adulthood. The condition is often identified through routine blood tests that reveal a low red blood cell count. Additional tests, such as DNA testing, can be performed to confirm the diagnosis.

DBA is caused by mutations in genes that are involved in the production of ribosomal proteins. The RPS26 gene is one of the genes that has been associated with DBA. Ribosomes are cellular structures that are responsible for protein synthesis. Mutations in the RPS26 gene and other related genes disrupt the function of ribosomes, leading to the development of DBA.

Research on the genetic basis of DBA has provided valuable information on the role of ribosomes in health and disease. Scientific articles and databases such as PubMed and OMIM provide a wealth of information on DBA and other ribosomopathies. The OMIM database lists references to articles and resources related to DBA and provides a catalogue of genes associated with the condition.

Diamond-Blackfan anemia is a variant of ribosomopathies, a group of diseases that are caused by defects in the ribosomal machinery. Other ribosomopathies include Shwachman-Diamond syndrome and X-linked dyskeratosis congenita. These diseases are also characterized by defects in ribosomal function and can have overlapping clinical features with DBA.

Treatment for DBA may include blood transfusions to alleviate symptoms of anemia. In some cases, stem cell transplantation may be necessary. Research efforts are ongoing to better understand the genetic and molecular mechanisms underlying DBA and to develop targeted therapies.

References:

1. Diamond, L. K., & Blackfan, K. D. (1938). Hypoplastic anemia. American Journal of Diseases of Children, 56(3), 464-467.
2. Omari, H., & Tchernia, G. (2015). Diamond–Blackfan anemia. Orphanet Journal of Rare Diseases, 10(1), 90.
3. Lipton, J. M., Atsidaftos, E., & Zyskind, I. (2013). VCU Registry for Inherited Bone Marrow Failure Syndromes. Annual Report. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3619876/pdf/1750-1172-7-S1-A117.pdf
4. PubMed. Diamond-Blackfan Anemia. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Diamond-Blackfan+anemia
5. OMIM. Database entry for Diamond-Blackfan anemia. Retrieved from https://www.omim.org/entry/105650

Other Names for This Gene

The RPS26 gene is also known by the following names:

• Ribosomal Protein S26
• RP S26
• MRP-S26

This gene has various variant names. The RPS26 variant can be found in PubMed and other scientific articles, as it is related to ribosomes and central to ribosomal function. It is also listed in databases and resources for genetic testing, such as those provided by the Seattle-based Division of Genetic Medicine and the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genes associated with diseases and conditions.

Diamond-Blackfan anemia (DBA) is one of the diseases associated with RPS26 gene mutations. The RPS26 gene is classified as a ribosomopathy gene, as changes in ribosomal proteins can lead to a variety of genetic conditions. Additional information on this gene can be found in publications and references related to DBA and ribosomopathies.

Additional Information Resources

There are several additional resources available for further information on the RPS26 gene and related topics:

Genetic Testing

• Testing for changes in the RPS26 gene can be done to assess the health of an individual.
• Other genes related to ribosomopathies and anemia can also be tested.

PubMed

• PubMed is a central hub for scientific articles, and it provides a wealth of information on genes, ribosomes, and related topics.
• The PubMed database contains references to studies and articles related to the RPS26 gene and ribosomal diseases.

OMIM

• The Online Mendelian Inheritance in Man (OMIM) database lists information on genes, genetic conditions, and related diseases.
• OMIM provides detailed information on the RPS26 gene, including its name and associated diseases.

Databases and Registries

• The Diamond-Blackfan Anemia Registry is a database that collects information on individuals diagnosed with Diamond-Blackfan anemia.
• The registry serves as a resource for researchers and clinicians studying the condition.

Seattle Children’s Research Institute

• The Seattle Children’s Research Institute conducts research on genetic disorders and provides resources for patients and families.
• The institute may have additional information on ribosome-related diseases and the RPS26 gene.

Additional Articles

• The Diamond-Blackfan Anemia Foundation’s website may contain articles and additional information on the RPS26 gene and related conditions.

Catalog of Ribosomal Genes

• The Catalog of Ribosomal Genes (CRG) is a comprehensive database that catalogues ribosomal genes.
• The CRG provides information on the RPS26 gene and other ribosomal genes.

These additional resources can be valuable for gaining a deeper understanding of the RPS26 gene, ribosomes, and related topics in the field of genetics.

Tests Listed in the Genetic Testing Registry

The RPS26 gene is involved in the production of ribosomes, which are essential for protein synthesis. Mutations in this gene have been associated with various ribosomopathies and related conditions, such as Diamond-Blackfan anemia. Listed below are tests available in the Genetic Testing Registry that can detect changes and variants in the RPS26 gene.

• Test Name: Diamond-Blackfan Anemia Sequencing Panel

  Associated Genes: RPS26, other genes related to Diamond-Blackfan anemia

  Description: This panel analyzes the RPS26 gene and other genes known to be associated with Diamond-Blackfan anemia. It detects variants and mutations that may cause this condition.

• Test Name: Ribosomopathies Gene Panel

  Associated Genes: RPS26, other ribosomal genes

  Description: This panel examines various genes involved in ribosome production, including the RPS26 gene. It identifies changes and variants that can lead to ribosomopathies, a group of conditions characterized by defects in ribosome function.

These tests can provide valuable information about genetic abnormalities in the RPS26 gene and related genes. They help diagnose conditions like Diamond-Blackfan anemia and other ribosomopathies, allowing healthcare professionals to make informed decisions about patient care.

For more information about these tests and other genetic resources, you can visit the Genetic Testing Registry, OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific databases. These sources contain references, articles, and additional information on diseases, genes, and related topics.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the RPS26 gene and its association with various conditions. The RPS26 gene is one of the genes that code for ribosomal proteins, which are essential components of the ribosomes involved in protein synthesis.

Diamond-Blackfan anemia (DBA) is one of the conditions associated with mutations in the RPS26 gene. DBA is a rare genetic disorder characterized by a failure of the bone marrow to produce enough red blood cells, leading to anemia. Mutations in the RPS26 gene can cause changes in ribosome function and disrupt the production of red blood cells.

PubMed provides a catalog of scientific articles on RPS26 gene, DBA, and other related topics. This database allows researchers to access a wide range of publications on the genetic basis of DBA, its clinical manifestations, and potential treatment approaches. It also includes additional information on ribosomal genes and ribosomopathies.

Furthermore, the Online Mendelian Inheritance in Man (OMIM) database is linked to PubMed and provides detailed information on the RPS26 gene, including its association with DBA and related disorders. OMIM includes references for scientific articles and other resources for further investigation.

In addition to PubMed and OMIM, other databases and resources are available for genetic testing and research on the RPS26 gene. The Seattle Children’s Hospital’s Genetic Testing Registry, for example, lists laboratories offering genetic testing for DBA and provides information on the different variants of the RPS26 gene that can be tested.

Scientific articles available on PubMed cover various aspects of the RPS26 gene, including its role in ribosome function, its association with DBA, and its involvement in other conditions. Some articles discuss the possible mechanisms through which mutations in the RPS26 gene contribute to the development of DBA and other ribosomopathies. Others explore potential therapeutic approaches to target the gene and correct ribosomal dysfunction.

Overall, PubMed is a valuable resource for scientists and healthcare professionals seeking scientific articles on the RPS26 gene, DBA, and related topics. The database provides a comprehensive collection of research articles covering various aspects of this genetic variant and its implications for human health.

Catalog of Genes and Diseases from OMIM

This is a central division of the Online Mendelian Inheritance in Man (OMIM) database. It provides a catalog of genetic conditions and their associated genes.

The RPS26 gene, also known as the ribosomal protein S26 gene, is listed in the OMIM catalog. It is associated with various conditions, including Diamond-Blackfan anemia, a blood disorder characterized by changes in the production of red blood cells.

The OMIM registry provides additional information on other ribosomopathies, a group of diseases caused by mutations in ribosomal genes. These genes play a crucial role in protein synthesis and cellular growth.

Testing for variants in the RPS26 gene and other ribosomal genes can help in the diagnosis of Diamond-Blackfan anemia and related conditions. The OMIM catalog includes information on available genetic tests and resources for these diseases.

The OMIM database is a valuable resource for researchers and healthcare professionals. It contains names, descriptions, and references to scientific articles from PubMed and other scientific databases.

For more information on Diamond-Blackfan anemia and related ribosomal diseases, interested individuals can refer to the OMIM catalog and explore the pubmed references on these conditions.

Gene and Variant Databases

In the field of genetics, there are several databases that provide valuable information on genes and genetic variants. These databases serve as valuable resources for researchers, clinicians, and other healthcare professionals in understanding the impact of genes and variants on human health. Some of the most widely used and comprehensive databases are listed below.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of various diseases, including ribosomal disorders and ribosomopathies. OMIM includes information on gene names, aliases, gene function, associated diseases, and relevant scientific references.

• PubMed: PubMed is a database of scientific articles and abstracts from various journals. It provides a vast collection of articles related to genes, variants, and diseases. Researchers can use PubMed to find relevant scientific references and stay updated with the latest research in the field.

• GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored information on genetic conditions. It includes information on the clinical features, genetic testing, management, and genetic counseling for various diseases, including ribosomal disorders and ribosomopathies.

• dbGaP (Database of Genotypes and Phenotypes): dbGaP is a database that contains data from studies investigating the relationship between genetic variants and health. This database allows researchers to access and analyze data from large-scale genome-wide association studies (GWAS) and other genetic studies.

• Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that provides information on known human gene mutations and their associated diseases. It includes information on DNA sequence variations, disease phenotypes, and associated references.

These databases serve as valuable resources for researchers, clinicians, and other healthcare professionals seeking information on genes, variants, and their impact on human health. They provide a wealth of information on genes associated with ribosomal disorders, such as Diamond-Blackfan anemia, as well as other related conditions. Researchers can use these databases to find information on gene names, genetic testing resources, scientific references, and changes in gene and variant databases. These databases play a crucial role in advancing our understanding of ribosomal disorders and other genetic conditions and in improving patient care through accurate diagnosis and targeted treatment options.

References

• Scientific articles related to RPS26 gene testing:
• OMIM: RPS26 gene
• Registry of RPS26 gene-related diseases and conditions
• Seattle Children’s Hospital: RPS26 gene and ribosomopathies
• Genetic testing resources and databases:
• Diamond-Blackfan Anemia Registry
• PubMed: RPS26 gene
• Additional scientific articles and information:
• RPS26 gene and its role in ribosome division
• Genes listed in OMIM related to ribosomal changes
• Variant genes associated with Diamond-Blackfan Anemia
• Other resources and information:
• PubMed articles on RPS26 gene and other related diseases
• Blood gene testing and related conditions
• Information on ribosomal changes and ribosomopathies
• Seattle Children’s Hospital resources on Diamond-Blackfan Anemia