The ADA2 gene, also known as adenosine deaminase 2, is a critical genetic variant involved in the deficiency of adenosine deaminase 2. This deficiency can lead to a reduction in the gene’s function and result in various health conditions and diseases.
Scientific studies and research have identified ADA2 gene mutations as a significant factor in the development of certain genetic disorders and other related conditions. The ADA2 gene is listed in various genetic databases and catalogs, such as OMIM, and has been extensively studied and referenced in scientific literature.
The ADA2 gene is expressed in various tissues of the human body and plays a crucial role in the regulation of adenosine deaminase 2 activity. Testing for ADA2 gene mutations can be conducted through genetic testing and is often used to diagnose individuals with ADA2 deficiency.
Individuals with ADA2 deficiency may experience a wide range of symptoms, including immune system abnormalities, vasculitis, and other inflammatory conditions. Recognizing and understanding the genetic changes in the ADA2 gene is critical for the diagnosis, treatment, and management of individuals with ADA2 deficiency.
Health Conditions Related to Genetic Changes
Genetic changes in the ADA2 gene, also known as adenosine deaminase 2, can lead to various health conditions. ADA2 deficiency is a rare genetic disorder that affects the immune system and can result in systemic inflammation and damage to various tissues and organs.
Individuals with ADA2 deficiency may experience a wide range of symptoms, including fever, rash, joint and muscle pain, and gastrointestinal problems. The severity and specific symptoms can vary from person to person. It is important to note that not all individuals with genetic changes in the ADA2 gene will develop symptoms or have a clinical diagnosis.
ADA2 deficiency is typically caused by genetic changes in the ADA2 gene. These changes can reduce the production or function of adenosine deaminase 2, leading to an accumulation of toxic substances in the body and dysregulation of the immune system. Genetic testing can be used to confirm a diagnosis of ADA2 deficiency.
Health conditions related to genetic changes in the ADA2 gene include:
- ADA2 deficiency: This condition is characterized by recurrent fevers, livedo reticularis (a lace-like red or purple rash on the skin), and other systemic symptoms.
- Systemic vasculitis: Inflammation of blood vessels throughout the body can occur in individuals with ADA2 deficiency.
- Polyarteritis nodosa-like vasculopathy: This condition involves inflammation of the arteries, particularly in the skin, gastrointestinal tract, and kidneys.
- Immunodeficiency: ADA2 deficiency can result in a weakened immune system, increasing the risk of infections.
- Neurological abnormalities: Some individuals with ADA2 deficiency may experience neurological symptoms, such as developmental delay and intellectual disability.
Genetic changes in the ADA2 gene can be identified through genetic testing. This can help with diagnosis and inform treatment options and management strategies. In some cases, targeted therapies may be used to address the underlying genetic changes and reduce symptoms.
Additional information on health conditions related to genetic changes in the ADA2 gene can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the ADA2 Deficiency Registry. These resources can provide more detailed information on specific variants, associated diseases, and available testing options.
Adenosine deaminase 2 deficiency
Adenosine deaminase 2 deficiency, also known as ADA2 deficiency, is a rare genetic condition in humans. It is caused by mutations in the ADA2 gene, which is responsible for encoding the adenosine deaminase 2 protein. This protein plays a critical role in the immune system and is found in various tissues throughout the body.
Individuals with ADA2 deficiency have reduced levels or complete absence of functional adenosine deaminase 2 protein. This can lead to a range of symptoms and clinical manifestations, including inflammation, vasculitis, and vasculopathy. The severity and specific features of ADA2 deficiency can vary widely among affected individuals.
Currently, testing for ADA2 deficiency is available through scientific resources and genetic testing laboratories. The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) catalog provide information on the available tests, the genes involved, and additional scientific references related to ADA2 deficiency.
For individuals suspected of having ADA2 deficiency, genetic testing can help confirm the diagnosis and identify the specific changes (variants) in the ADA2 gene. This information is critical for proper management and treatment of the condition.
It is important to note that ADA2 deficiency is a rare genetic condition, and not all individuals with a variant in the ADA2 gene will develop the disease. Other factors, including genetic and environmental factors, can influence the development and progression of ADA2 deficiency.
Scientific articles and resources such as PubMed and databases like OMIM provide further information on ADA2 deficiency, including clinical characteristics, management guidelines, and ongoing research studies. It is recommended to consult with a healthcare professional or genetic specialist for a comprehensive evaluation and personalized care plan for individuals with ADA2 deficiency.
Other Names for This Gene
- ADA2 gene
- Adenosine deaminase 2
- CADA2
- cat eye syndrome chromosome region, candidate 2
- hereditary periodic fever syndrome
- HPF
- ADA2
- JMML-like syndrome
- JMML-like syndrome with skin involvement
- polyarteritis nodosa with livedo reticularis and muscle vasculitis
- PACNMLD
- vasculopathy, retinal, with cerebral leukodystrophy
- VCLRL
- Vascular inflammation and central nervous system disruption due to ADA2 deficiency
The ADA2 gene, also known as Adenosine deaminase 2, has various other names associated with it. These names reflect different factors, health conditions, and genetic information related to the gene. ADA2 gene deficiency can lead to diseases such as hereditary periodic fever syndrome, polyarteritis nodosa with livedo reticularis and muscle vasculitis, and vasculopathy, retinal, with cerebral leukodystrophy. It is critical to have accurate and comprehensive information about this gene and its related conditions.
References and additional resources for genetic testing and information on this gene and related diseases can be found in scientific articles, catalogs, and databases such as OMIM (Online Mendelian Inheritance in Man), as well as the genetic testing registry. These resources provide valuable knowledge about the ADA2 gene and its role in various health conditions.
Additional Information Resources
- PubMed: A database of scientific articles related to the ADA2 gene and genetic deficiency. It provides critical information on genetic changes, variant conditions, and testing methods. You can find references, reduce articles, and browse through the catalog of diseases and conditions associated with ADA2 deficiency.
- OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic disorders related to the ADA2 gene. It lists names, genetic factors, and critical health factors associated with ADA2 deficiency. It also provides additional resources and scientific references.
- Registry for ADA2 Deficiency: This registry supports research on ADA2 deficiency and collects data from affected individuals to advance our understanding of this genetic condition. The registry also facilitates communication among researchers, clinicians, and patients.
- Other Genetic Databases: There are several other genetic databases that offer information on ADA2 deficiency and related genes. These include databases such as GenBank, Ensembl, and dbSNP, which provide genetic sequence information, allele frequencies, and variant annotations for ADA2 and other relevant genes.
Additional testing of ADA2 deficiency can be done in various human tissues, such as blood or skin biopsy samples, to study the functional changes in the ADA2 gene. Availability of such resources allows scientists to conduct research studies to further understand the role of ADA2 gene in health and diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests. It provides access to a wide range of information about genetic tests, including gene names, variant names, diseases associated with the gene, and scientific articles related to the gene.
The GTR database is a valuable resource for researchers, healthcare professionals, and individuals who are interested in genetic testing. It contains information about a variety of genes and variants, including the ADA2 gene.
Adenosine Deaminase 2 (ADA2) gene is critical for the production of the ADA2 protein, which helps to reduce inflammation and protect tissues and organs in the body. Changes in the ADA2 gene can lead to ADA2 deficiency, a rare genetic condition that affects the immune system and can cause various health problems.
The GTR provides additional scientific information about the ADA2 gene, including references to articles published in PubMed and other scientific databases. These resources can be used to learn more about the gene, its variants, and their roles in human health and diseases.
Genetic tests listed in the GTR can be used to diagnose ADA2 deficiency and other genetic conditions. These tests analyze the ADA2 gene for specific variants that are associated with the condition. Testing for ADA2 deficiency can help healthcare professionals make an accurate diagnosis and develop targeted treatment plans for affected individuals.
In summary, the Genetic Testing Registry is a valuable resource for accessing information about genetic tests related to the ADA2 gene and other genes. It provides a comprehensive catalog of tests and scientific articles, allowing users to find critical information related to genetic testing and genetic conditions.
Scientific Articles on PubMed
Scientific research conducted on the ADA2 gene has provided significant insights into various genetic diseases and conditions related to adenosine deaminase 2 deficiency. A variety of genes and their names have been listed in different databases like PubMed, which contain articles discussing the implications and changes associated with this gene and genetic deficiency.
PubMed is a critical resource for finding scientific articles on genetic diseases and conditions. It provides a comprehensive registry of articles and references from various human tissues, testing resources, and other related information. The database offers health professionals and researchers access to a wide range of articles that discuss the ADA2 gene and its implications in various diseases.
One notable study conducted by Aksentijevich and colleagues explored the variant changes in the ADA2 gene and the associated health conditions. This study is a valuable resource for understanding the critical factors and genetic testing methods related to adenosine deaminase 2 deficiency.
Additionally, the Online Mendelian Inheritance in Man (OMIM) catalog provides a wealth of information on genetic diseases and conditions, including ADA2 deficiency. This catalog offers a comprehensive overview of the genetic changes and associated symptoms for various diseases, including those related to the ADA2 gene.
Medical professionals and researchers can further reduce the search and navigate through the vast resources on PubMed by utilizing specific keywords and advanced search options. This approach allows for a more targeted exploration of articles and studies related to the ADA2 gene and its implications in various diseases and conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a registry of genetic information on human diseases and genes. It provides a comprehensive list of diseases and genes associated with the ADA2 gene deficiency, among other genetic conditions. The ADA2 gene, also known as the adenosine deaminase 2 gene, is critical for the proper functioning of various tissues in the human body.
This catalog contains articles, scientific references, and additional resources related to the ADA2 gene deficiency and other conditions. It provides information on genetic changes, testing methods, and health factors associated with the deficiency.
The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the ADA2 gene deficiency and its associated conditions. It aims to reduce the impact of the deficiency on human health by providing comprehensive and up-to-date information.
Gene and Variant Databases
Gene and variant databases are valuable resources for reducing the names of genetic changes and providing critical information on gene testing and related conditions. These databases compile scientific articles, references, and other information on genetic changes in specific genes, such as the ADA2 gene.
The ADA2 gene, also known as adenosine deaminase 2, is a critical factor in human health. Genetic changes in this gene can lead to ADA2 deficiency, which is associated with various diseases and conditions.
Some of the important gene and variant databases related to ADA2 deficiency include:
- Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic conditions and the associated genes. It includes references to scientific articles and other resources for ADA2 deficiency.
- PubMed: PubMed is a database of scientific articles and references. It can be used to search for additional articles on ADA2 deficiency and related genetic changes.
- Genetic Testing Registry (GTR): GTR is a central registry of genetic tests. It provides information on the available tests for ADA2 deficiency and lists the laboratories offering these tests.
These databases are essential tools for researchers, healthcare professionals, and individuals interested in ADA2 deficiency. They provide up-to-date information on genetic changes, testing options, and references to scientific literature.
It is important to note that the information in these databases may change over time as new research emerges. Therefore, it is recommended to regularly check these resources for the most recent and accurate information on ADA2 deficiency and related genetic changes.
References
- Diseases listed in the ADA2 Gene:
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- Adenosine deaminase 2 deficiency
- Factor V Deficiency
- Hemolytic Anemia, Non-Spherocytic
- Immunodeficiency, due to ADA2 deficiency
- Vasculopathy, retinal, with cerebral leukodystrophy
- Down Syndrome
- Genetic testing for ADA2 gene variant:
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- PubMed – a scientific articles database
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic conditions
- Genetics Home Reference – a resource from the National Library of Medicine
- ADA2 Gene Testing Registry
- Genes related to ADA2:
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- Ling Z, et al. – AKT2
- Changes in ADA2 gene in the human tissues
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Articles on ADA2 Gene:
- Epub 2020 Feb 5
- Aksentijevich I – ADA2 deficiency
- Epub 2019 Jul 30
- Registry of Adenosine Deaminase Type 2 (DADA2)
- Critical health tests for ADA2 gene testing:
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- Adenosine Deaminase 2 (ADA2) Deficiency
- Factors that reduce ADA2 activity
- Other conditions associated with ADA2 deficiency
- Names for ADA2 gene