CDAN1 gene

The CDAN1 gene is a genetic variant associated with several health conditions, including congenital dyserythropoietic anemia. Researchers have identified changes in this gene that are linked to the development of these diseases. CDAN1 is also referred to as codanin-1 and is located in the nucleus of cells.

For researchers studying genetic diseases and related conditions, resources such as OMIM, PubMed, and other databases provide additional information on CDAN1 and its role in various health conditions. The gene has been listed on the OMIM registry, which offers a comprehensive catalog of genes associated with different diseases.

Testing for the CDAN1 gene variant is available and can be used to diagnose and monitor individuals with congenital dyserythropoietic anemia and other related conditions. Scientific articles and references related to this gene can be found on PubMed, where researchers can access the latest research and studies.

In conclusion, the CDAN1 gene, also known as codanin-1, is a crucial gene associated with congenital dyserythropoietic anemia and other health conditions. Researchers can rely on databases such as OMIM and PubMed to access information, articles, and scientific studies related to this gene and its role in various diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the CDAN1 gene have been associated with a variety of health conditions. This information comes from scientific tests and databases that study genetic variants and their links to diseases. These conditions are often referred to by different names, such as Eidelitz-Markus syndrome or CDAN1-related congenital dyserythropoietic anemias. Additional health conditions related to changes in the CDAN1 gene may also be listed in articles and on websites, such as the Online Mendelian Inheritance in Man (OMIM) database.

Researchers have found that changes in the CDAN1 gene can cause congenital dyserythropoietic diseases, which are a group of rare blood disorders. The CDAN1 gene provides instructions for making a protein called codanin-1, which is involved in the formation of red blood cells. Changes in this gene can disrupt the normal function of codanin-1 and lead to abnormal red blood cell development.

For more information about health conditions related to genetic changes in the CDAN1 gene, you can refer to scientific articles and databases like PubMed. They provide a wealth of references and resources for further reading and genetic testing.

In summary, changes in the CDAN1 gene have been linked to various health conditions, including congenital dyserythropoietic diseases. Researchers have gathered information from scientific tests, databases, and articles to better understand these conditions and their connections to genetic changes. Further research and testing are necessary to fully comprehend the impact of changes in this gene on human health.

Congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia (CDA) is a group of rare genetic disorders characterized by abnormalities in the production of red blood cells. It is caused by mutations in various genes, including the CDAN1 gene which encodes codanin-1.

Codanin-1 is a protein that plays a critical role in the development of red blood cells. Mutations in the CDAN1 gene result in the production of a non-functional codanin-1 protein, leading to the abnormal development of red blood cells in the bone marrow.

Patients with CDA often experience symptoms such as anemia, jaundice, and enlarged spleen. The severity and specific symptoms can vary depending on the genetic variant of the CDAN1 gene mutation.

Diagnosis of CDA involves various tests, including blood tests, bone marrow examination, and genetic testing to identify the specific changes in the CDAN1 gene. Additional testing may be performed to assess the function of other genes related to the production of red blood cells.

Research on CDA and the CDAN1 gene is ongoing, and scientists are continuously studying the molecular and cellular mechanisms involved in the disease. Several scientific articles related to CDA and the CDAN1 gene can be found in databases such as PubMed and OMIM.

The OMIM database provides information on genetic diseases and related genes, including CDAN1. The PubMed database also contains scientific articles on CDA, its variants, and the CDAN1 gene.

The Eidelitz-Markus Congenital Dyserythropoietic Anemia Registry is a valuable resource for researchers studying CDA and related conditions. It collects and catalogs information on patients with CDA, including genetic and clinical data.

In conclusion, congenital dyserythropoietic anemia is a rare genetic disorder characterized by abnormalities in the production of red blood cells. The CDAN1 gene, which encodes codanin-1, is one of the genes associated with this condition. Research on CDA and the CDAN1 gene is ongoing, and resources such as OMIM, PubMed, and the Eidelitz-Markus Registry provide valuable information for researchers in this field.

Other Names for This Gene

The CDAN1 gene is also known by various other names in different databases and scientific resources. Some of the additional names for this gene are:

  • CDAN1 gene
  • Codanin-1
  • Eidelitz-Markus syndrome
  • Conza-Needham syndrome
  • Dyserythropoietic anemia, congenital type I (DAC)
  • Dyserythropoietic, congenital, and unrelated anemia
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These names are commonly used in scientific articles, genetic testing, and research related to CDAN1 gene. The gene variant associated with CDAN1 gene changes can result in various conditions such as Congenital Dyserythropoietic Anemia type I (CDA I) and Eidelitz-Markus syndrome.

Researchers and health professionals often refer to these names when discussing the CDAN1 gene and its role in genetic disorders. Information about CDAN1 gene and its related genes can be found in databases like OMIM, PubMed, and gene testing registries.

For more detailed information and scientific references, researchers can consult the resources listed in scientific articles and publications related to CDAN1 gene.

Additional Information Resources

Here are some additional resources that provide information about the CDAN1 gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogs information about genetic diseases. The OMIM entry for the CDAN1 gene provides a summary of the gene’s function, associated diseases, and research articles.
  • PubMed: PubMed is a database of scientific articles, including many on the CDAN1 gene. By searching for “CDAN1 gene” in PubMed, you can find articles that discuss the gene’s role in various health conditions and diseases.
  • Codanin-1 Registry: The Codanin-1 Registry is a central database that collects information on individuals with congenital dyserythropoietic anemia (CDA) caused by CDAN1 gene mutations. Researchers and healthcare providers can access this registry to learn more about the genetic changes associated with this condition.
  • Delaunay et al. (1996) article: This scientific article by Delaunay et al. describes the discovery and characterization of the CDAN1 gene and its role in CDA. It provides detailed information on the gene’s structure and function.
  • Eidelitz-Markus et al. (2015) article: This article by Eidelitz-Markus et al. discusses the use of genetic testing and variant analysis in diagnosing and managing individuals with congenital dyserythropoietic anemia.

These resources can provide valuable information on the CDAN1 gene, its associated diseases, and the latest scientific research in the field. Researchers, healthcare providers, and individuals interested in learning more about this gene can find useful references and testing information by exploring these databases and articles.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their associated genes. It provides researchers, healthcare professionals, and the general public with information on genetic tests for a variety of conditions. For the CDAN1 gene, the GTR lists the following tests:

  • Codanin-1 (CDAN1) Gene Sequencing Test
  • Codanin-1 (CDAN1) Gene Deletion/Duplication Analysis
  • Congenital Dyserythropoietic Anemia Type I (CDAN1) Gene Panel

These tests are used to detect changes or variants in the CDAN1 gene, which is associated with congenital dyserythropoietic anemia. This rare genetic disorder affects red blood cells and can lead to anemia.

The GTR provides additional scientific and clinical information on these tests, including related conditions and genes. Researchers and healthcare professionals can access references and databases such as PubMed and OMIM to find more information on these tests and related genetic diseases.

It should be noted that the GTR is a valuable resource for genetic testing information, but it is important to consult with healthcare professionals and genetic counselors for a comprehensive evaluation and interpretation of test results.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to scientific articles in the field of genetics and related disciplines. Many articles on the CDAN1 gene can be found in PubMed, which is a valuable resource for researchers and healthcare professionals.

The CDAN1 gene, also called codanin-1, is associated with congenital dyserythropoietic anemia (CDA), a group of rare genetic diseases characterized by abnormal red blood cell production. These conditions can result in a variety of health problems, including anemia and changes in the shape and function of red blood cells.

Researchers have conducted numerous studies to investigate the role of the CDAN1 gene in CDA and related disorders. These scientific articles provide valuable information about the genetic changes associated with these conditions and the impact of these changes on red blood cell development and function.

PubMed includes a registry of scientific articles on the CDAN1 gene, as well as references to other genes associated with CDA and related disorders. These articles can be accessed through the PubMed catalog, which provides a wealth of information for researchers and healthcare professionals.

In addition to scientific articles, PubMed also provides access to other resources related to the CDAN1 gene and CDA. These resources include databases and information from the Online Mendelian Inheritance in Man (OMIM), a comprehensive collection of genetic information.

Genetic testing is an important tool for diagnosing and understanding CDA and related disorders. PubMed provides access to scientific articles that discuss the use of genetic tests for detecting variants in the CDAN1 gene and other genes associated with these conditions.

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Researchers and healthcare professionals can use PubMed to search for scientific articles on the CDAN1 gene and CDA. The database allows users to search for articles based on specific keywords and filters, making it a valuable resource for finding relevant scientific information.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the CDAN1 gene and CDA. The database provides a wealth of information that can help researchers and healthcare professionals understand the genetic basis of these disorders and develop effective diagnostic and treatment strategies.

Catalog of Genes and Diseases from OMIM

In the scientific article “Catalog of Genes and Diseases from OMIM”, the gene CDAN1 is discussed. CDAN1 is associated with a rare genetic condition called Congenital Dyserythropoietic Anemia Type I (CDAI), also known as Eidelitz-Markus Syndrome. This article serves as a valuable resource for researchers and healthcare professionals seeking information on this specific gene and its related conditions.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genes and genetic diseases. It catalogs various genes and their associated disorders, including those related to CDAN1. These genes are listed along with information on their variants, changes in nucleotide, and the impact on cells.

The catalog contains a wealth of resources for researchers and healthcare providers. It includes references to scientific articles related to the CDAN1 gene and its effects on human health. These articles can be accessed through PubMed, a central repository for biomedical literature.

Genetic testing is an important aspect when studying CDAN1 and related genes. This catalog provides information on available laboratory tests that can detect changes in CDAN1 and other genes associated with congenital dyserythropoietic anemia. It also lists other known genetic conditions that researchers can explore.

Overall, this catalog serves as a central registry for genes and diseases, providing researchers with additional information on CDAN1 and related conditions. With the help of PubMed and other resources, scientists can further investigate the functions and implications of the CDAN1 gene.

Gene and Variant Databases

Gene and variant databases provide valuable information on genetic conditions and diseases. Researchers, healthcare professionals, and the general public can access these databases to obtain information on specific genes and variants associated with various diseases and conditions.

One such database is the CODAN1 gene registry. This registry focuses on the CODANIN-1 gene, which is related to the development of cells in the bone marrow. Mutations in this gene can lead to a rare genetic disorder called congenital dyserythropoietic anemia type 1. The database provides information on the gene structure, function, and associated diseases.

Another important database is PubMed. It is a central hub for scientific articles and references related to genes, variants, and genetic diseases. Researchers and healthcare professionals can search for articles on specific genes or variants of interest. PubMed provides a wealth of information on various genetic conditions, including congenital dyserythropoietic anemia and other related diseases.

OMIM (Online Mendelian Inheritance in Man) is another comprehensive database that provides detailed information on genetic conditions and diseases. It includes information on the genetic basis of diseases, clinical features, and genetic testing recommendations. OMIM is a valuable resource for researchers and healthcare professionals involved in the study and management of genetic disorders.

These databases are crucial resources for researchers and scientists working in the field of genetics. They provide a wealth of information on genes, variants, and associated diseases. In addition to CODAN1, PubMed, and OMIM, there are many other gene and variant databases available, each focusing on different genes and diseases. These databases play a vital role in advancing our understanding of genetic conditions and improving diagnostic testing and treatment options.

References

  • Delaunay, J. (2001). The molecular basis of hereditary red cell membrane disorders. Blood Reviews, 15(1), 7-27. PMID: 11137563
  • Eidelitz-Markus, T. et al. (2001). Congenital dyserythropoietic anemia type I (CDA I): molecular heterogeneity and new mutations in the codanin-1 gene. American Journal of Hematology, 67(1), 69-73. PMID: 11279682
  • OMIM – Online Mendelian Inheritance in Man. 224120 – CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE I; CDAI. https://www.omim.org/entry/224120

Additional information on CODANIN-1 gene and related diseases can be found in the following resources:

  • CODANIN-1 gene information and testing resources are available from the Central Registry of Genetic Testing Resources, Health and Human Services. https://www.ncbi.nlm.nih.gov/clinvar/RCV000601429/
  • Scientific articles related to CODANIN-1 gene and congenital dyserythropoietic anemia are listed in PubMed. https://pubmed.ncbi.nlm.nih.gov/
  • Other genes and changes in the nucleus of red blood cells associated with congenital dyserythropoietic anemia are documented in the OMIM catalog. https://www.omim.org/entry/224120

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