The ADA gene, also known as adenosine deaminase, is a scientific and genetic database that contains information on the genetic changes and conditions associated with adenosine deaminase deficiency. The database includes references, additional articles, and resources for testing and health-related information.
Adenosine deaminase deficiency is a rare genetic disorder that affects the immune system and can result in various diseases and conditions. The ADA gene database provides a comprehensive catalog of genetic variants and names associated with this deficiency, as well as information from other databases and scientific publications.
Combined with testing and registry information, the ADA gene database is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about adenosine deaminase deficiency and its related genetic changes and conditions. The database provides a wealth of information on the genetic basis of this deficiency, as well as resources for testing and additional health-related information.
Health Conditions Related to Genetic Changes
Genetic changes in the ADA gene can result in various health conditions. The ADA gene is responsible for producing an enzyme called adenosine deaminase, which plays a crucial role in the breakdown of a molecule called adenosine. Adenosine deaminase deficiency is a condition caused by genetic changes in the ADA gene that result in a lack of or insufficient adenosine deaminase enzyme.
This deficiency can lead to a buildup of toxic substances such as deoxyadenosine and adenosine in the body, which can cause serious health problems. The primary health condition associated with adenosine deaminase deficiency is called severe combined immunodeficiency (SCID). SCID is a group of genetic disorders that result in a weakened or absent immune system.
Some other health conditions related to genetic changes in the ADA gene include:
- ADA-SCID: This is the most severe form of SCID and is caused by a complete absence of adenosine deaminase enzyme activity.
- Delayed-onset ADA-SCID: In this form of ADA-SCID, symptoms may not appear until later in life, making it less severe than the classic form.
- Atypical ADA-SCID: This rare form of ADA-SCID is caused by genetic changes that result in a partially functional adenosine deaminase enzyme.
- ADA-related non-SCID: Some genetic changes in the ADA gene can result in additional health conditions that are not related to SCID, such as autoimmune disorders or neurological problems.
For more information on health conditions related to genetic changes in the ADA gene, you can refer to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information on the genetic changes, associated health conditions, and testing options available for each condition.
Additionally, you can find information on ADA gene-related health conditions through disease registries and genetic testing companies. These resources can help individuals and families affected by ADA gene-related disorders connect with support networks, research opportunities, and access to diagnostic and treatment options.
Adenosine deaminase deficiency
Adenosine deaminase deficiency, also known as ADA deficiency, is a genetic disorder that results in a lack of the adenosine deaminase enzyme. The ADA gene provides instructions for making adenosine deaminase, which is involved in the breakdown of a molecule called adenosine. Adenosine is a building block of DNA and RNA, and its breakdown products are important for normal cell function.
This deficiency can lead to a buildup of a compound called deoxyadenosine, which is toxic to lymphocytes. Lymphocytes are a type of white blood cell that helps to protect the body against infections. Without adenosine deaminase, lymphocytes are not able to function properly and the immune system becomes compromised.
The deficiency is inherited in an autosomal recessive pattern, meaning that both copies of the ADA gene in each cell have mutations. Individuals with ADA deficiency can have reduced levels of adenosine deaminase activity, severe combined immunodeficiency (SCID), or a milder form called ADA-SCID. SCID is a group of disorders characterized by a weakened immune system.
Testing for ADA deficiency can be done through genetic testing, which looks for changes in the ADA gene. This information can help diagnose the condition and determine the best course of treatment. Additionally, other genetic tests may be performed to look for variants in related genes or changes in the amino acid sequence of the ADA protein.
Further information on ADA deficiency and related conditions can be found in scientific articles and references from resources such as PubMed, OMIM, and databases like the Genetic Testing Registry. These resources provide valuable information on the symptoms, diagnosis, and treatment options for ADA deficiency.
For more information on ADA deficiency and other genetic diseases, please refer to the catalog of articles and resources available from the National Institutes of Health and other health organizations.
Other Names for This Gene
The ADA gene is also known by other names in scientific literature and genetic databases:
- Adenosine Deaminase Gene
- Adenosine Amino Hydrolase Gene
- Deoxyadenosine Deaminase Gene
These names are used to refer to the same gene and its various variants and deficiencies in different contexts and databases. Here is a list of resources where you can find additional information on the ADA gene and related conditions:
- Online Resources:
- OMIM – The Online Mendelian Inheritance in Man databases
- PubMed – A database of scientific articles from various journals
- GeneTests – A comprehensive genetic testing and diagnosis resource
- Genetic Changes and Variants:
- ADA Deficiency
- ADA Genetic Deficiency
- ADA Gene Deficiency
- Registry and Catalog:
- ADA Registry
- ADA Gene Catalog
- ADA Deficiency Registry
- Tests and Testing Information:
- ADA Testing
- ADA Gene Testing
- ADA Deficiency Testing
- Related Diseases and Conditions:
- Adenosine Deaminase Deficiency
- Adenosine Amino Hydrolase Deficiency
- Deoxyadenosine Deaminase Deficiency
By combining information from these resources, you can gather a comprehensive understanding of the ADA gene, its various variants and deficiencies, and their associated diseases and conditions.
Additional Information Resources
Additional information related to the ADA gene and its associated conditions can be found from several scientific databases and resources:
- OMIM (Online Mendelian Inheritance in Man) – OMIM provides comprehensive information on the genetic changes that result in ADA deficiency and other related diseases. The database includes names of the ADA gene, amino acid changes, and references to scientific articles.
- PubMed – PubMed is a database of scientific articles. It can be searched for articles related to ADA deficiency, ADA gene, and genetic testing.
- Genetic Testing Registry – The Genetic Testing Registry provides information on genetic tests for ADA deficiency and other genetic conditions. It includes a catalog of available tests, their purpose, methods, and associated genes.
- Health-Related Websites – Several health-related websites provide information on ADA deficiency and its genetic causes. These websites may offer general information, symptoms, treatment options, and resources for individuals and families affected by ADA deficiency.
It is important to consult these resources for the most accurate and up-to-date information on the ADA gene, associated conditions, and genetic testing.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a combined, comprehensive catalog of genetic tests provided by various scientific and health organizations. The GTR lists tests for the ADA gene deficiency, as well as tests related to other genetic conditions and diseases.
The GTR provides information on genetic tests, including names, references to scientific articles, and additional resources. These resources can include databases like OMIM and PubMed, which provide information on changes in the ADA gene and related genetic conditions.
Genetic tests listed in the GTR can include tests for changes in the ADA gene, as well as tests for other genes that may be associated with ADA deficiency. The GTR provides information on the specific variants and amino acid changes that may result in ADA deficiency.
Testing for ADA deficiency can be important for diagnosing and managing various health conditions. The GTR allows individuals to access information on available tests and seek appropriate genetic testing services.
By providing a catalog of genetic tests, the GTR helps researchers, healthcare professionals, and individuals access information on ADA deficiency and related genetic conditions. It serves as a valuable resource for those involved in genetic testing and research.
| Test Name | Test Description |
|---|---|
| ADA Gene Sequencing Test | This test examines the DNA sequence of the ADA gene to identify any genetic variants or mutations. |
| ADA Enzyme Activity Test | This test measures the activity level of the ADA enzyme, which can indicate ADA deficiency. |
| ADA Protein Expression Test | This test assesses the expression of the ADA protein, allowing for the detection of ADA deficiency. |
| Comprehensive Immunodeficiency Panel | This panel tests for various genetic conditions associated with immunodeficiency, including ADA deficiency. |
These are just a few examples of the genetic tests listed in the GTR. The GTR provides a comprehensive and up-to-date catalog of available tests, offering valuable information for individuals and healthcare professionals alike.
References:
- Genetic Testing Registry (GTR) – Available at: https://www.ncbi.nlm.nih.gov/gtr/
- OMIM Database – Available at: https://www.omim.org/
- PubMed – Available at: https://pubmed.ncbi.nlm.nih.gov/
Note: The information provided in the GTR is subject to change. It is important to consult with healthcare professionals and genetic counselors for the most accurate and up-to-date information.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the ADA gene. The ADA gene, also known as adenosine deaminase, encodes an enzyme called adenosine deaminase (ADA). This enzyme plays a crucial role in the breakdown of adenosine and deoxyadenosine, preventing the buildup of toxic metabolites.
There are several conditions associated with ADA gene changes, including ADA deficiency. ADA deficiency is a genetic disorder characterized by a lack of functional ADA enzyme, leading to the buildup of toxic metabolites. This condition can result in a range of health problems and is typically diagnosed through genetic testing.
PubMed provides a comprehensive database of scientific articles on the ADA gene and related topics. These articles cover various aspects of ADA gene function, genetic testing, and the implications of ADA gene changes in different diseases.
One useful feature of PubMed is that it allows users to search for articles using different keywords. For example, you can search for “ADA gene,” “adenosine deaminase,” or “ADA deficiency” to find relevant articles.
In addition to PubMed, there are other databases and resources that provide valuable information on the ADA gene. The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the ADA gene, including its variants and associated diseases.
The ADA Gene and Variant Database is another valuable resource for researchers and clinicians. It provides a curated collection of genetic variants in the ADA gene and their functional effects.
When searching for information on the ADA gene, it is important to consult scientific articles and databases to ensure accurate and up-to-date information. In addition, consulting the references listed in the articles can provide additional sources of information.
Overall, PubMed and other scientific databases provide a wealth of information on the ADA gene, its variants, and associated diseases. Researchers, clinicians, and individuals interested in ADA deficiency can find a wide range of scientific articles and resources to enhance their understanding of this genetic condition.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genetic conditions and the associated genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that provides information on genetic disorders.
In this catalog, you can find information on various genes and their associated diseases. These genes play a crucial role in the production of amino acids and other important molecules in the body. A deficiency or changes in the genes listed in this catalog can result in genetic disorders and related health conditions.
The catalog provides detailed information on the genes, including their names, aliases, and references to scientific articles and other resources. It also includes information on the diseases caused by the genetic variants or deficiencies of these genes. The catalog provides a combined resource of information from OMIM, PubMed, and other databases.
For each gene, the catalog provides information on the associated diseases and conditions. It lists the genetic changes or deficiencies that can result in these conditions. Additionally, the catalog includes information on testing and diagnostic resources available for each gene and associated condition.
OMIM is an invaluable tool for researchers, scientists, and healthcare professionals working in the field of genetics and genetic disorders. It provides a comprehensive collection of information on genes and diseases, helping in the understanding, diagnosis, and management of genetic conditions.
In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic health. It provides information on genes, their functions, related diseases, testing resources, and references to scientific articles. It plays a crucial role in advancing our understanding of genetic disorders and improving patient care.
Gene and Variant Databases
Gene and variant databases are resources that provide information on genetic changes in genes and their associated variants. These databases are essential references for scientists and healthcare professionals working on genetic deficiency diseases such as adenosine deaminase deficiency. They can also be used by individuals seeking information on genetic conditions and diagnostic genetic testing.
One of the key databases for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes, genetic variants, and their associated diseases. It catalogues information from scientific articles, genetic testing laboratories, and other resources, making it a valuable reference for researchers and clinicians.
In the context of the ADA gene, OMIM provides detailed information on adenosine deaminase deficiency, including the genetic changes associated with the condition. It lists the different variants of the gene and their impact on the amino acid sequence of the ADA protein.
Another database that provides information on genetic variants is the Human Gene Mutation Database (HGMD). HGMD compiles data from scientific articles and other sources, focusing on disease-associated genetic variants. It provides information on the genetic changes observed in different genes, including the ADA gene.
For individuals interested in genetic testing, the Genetic Testing Registry (GTR) can be a valuable resource. GTR lists laboratories and providers offering genetic testing for various conditions, including adenosine deaminase deficiency. It provides information on the types of tests available and contact details for the testing providers.
Overall, gene and variant databases play a crucial role in providing information on genetic changes and associated diseases. They serve as valuable references for scientists, healthcare professionals, and individuals seeking information on genetic conditions and diagnostic testing options.
References
- Adenosine Deaminase Deficiency. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency
- ADA gene. OMIM: Online Mendelian Inheritance in Man. Retrieved from https://omim.org/search/?index=entry&sort=score+desc%2C+prefix_sort+desc&start=1&limit=10&search=ADA+gene
- ADA (adenosine deaminase) deficiency. National Organization for Rare Disorders. Retrieved from https://rarediseases.org/rare-diseases/ada-adenosine-deaminase-deficiency/
- Combined Immunodeficiency, Athabaskan Type; CIDAK. OMIM: Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/266910
- An Update on Adenosine Deaminase Deficiency. Hematology/Oncology Clinics of North America. Retrieved from https://pubmed.ncbi.nlm.nih.gov/29606844/
- Adenosine deaminase deficiency. Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=42
- ADA (adenosine deaminase) Deficiency. The Johns Hopkins University: McKusick-Nathans Institute of Genetic Medicine. Retrieved from https://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinics-genetic-counseling/metabolic-genetic-clinic/ada-adenosine-deaminase-deficiency.html