The ADAMTS13 gene encodes a protein that plays a crucial role in blood clotting. Mutations in this gene are associated with various conditions, including thrombotic thrombocytopenic purpura.
The ADAMTS13 gene is listed in genetic databases, such as OMIM and the Genetic Testing Registry. It is also referenced in scientific articles and related health resources. Mutations in this gene can lead to a small form or variant of ADAMTS13, which affects its normal clotting factor function.
Testing for mutations in the ADAMTS13 gene can be done to diagnose and manage thrombotic thrombocytopenic purpura. This condition is characterized by the formation of blood clots throughout the body, which can lead to organ damage and other health complications.
For more information on the ADAMTS13 gene, related conditions, and genetic testing, references and additional resources can be found in PubMed and other scientific catalogs.
Health Conditions Related to Genetic Changes
Genetic changes in the ADAMTS13 gene are associated with various health conditions. One such condition is thrombotic thrombocytopenic purpura (TTP), which is a rare blood disorder. TTP is caused by a deficiency of the ADAMTS13 protein, which is responsible for breaking down large von Willebrand factor multimers in the blood. Without enough ADAMTS13, these multimers can form clots that block blood vessels throughout the body.
To diagnose TTP and other genetic conditions related to changes in the ADAMTS13 gene, various tests can be conducted. These tests may include genetic testing to identify changes or mutations in the gene, as well as additional blood tests to measure ADAMTS13 activity and levels. The ADAMTS13 gene, along with other related genes, can be searched in databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles and references on genetic changes and related health conditions.
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Thrombotic thrombocytopenic purpura is just one of the many health conditions that can be caused by genetic changes in the ADAMTS13 gene. Other conditions include variants of TTP, as well as other thrombotic diseases. The Genetic Testing Registry (GTR) is a valuable resource for finding information on genetic testing options for these conditions. Additionally, the National Heart, Lung, and Blood Institute (NHLBI) provides resources and information on clotting disorders.
It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis and management of health conditions related to genetic changes in the ADAMTS13 gene. This information should not be used as a substitute for professional medical advice.
| Resource | Description |
|---|---|
| OMIM (Online Mendelian Inheritance in Man) | A comprehensive catalog of human genes and genetic disorders, providing information on genetic changes and associated health conditions. |
| PubMed | A database of scientific articles and references, offering in-depth information on genetic changes and related health conditions. |
| Genetic Testing Registry (GTR) | A database of genetic testing options and labs, helping individuals find available testing options for genetic changes related to health conditions. |
| National Heart, Lung, and Blood Institute (NHLBI) | An institute providing information and resources on clotting disorders and related conditions. |
It is advisable to refer to these resources and consult with healthcare professionals for accurate and up-to-date information on health conditions related to genetic changes in the ADAMTS13 gene.
Thrombotic thrombocytopenic purpura
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder characterized by the formation of small blood clots throughout the body.
TTP is caused by a deficiency or dysfunction of the ADAMTS13 enzyme, which is normally responsible for breaking down large multimers of von Willebrand factor (VWF). Without adequate ADAMTS13 activity, these multimers can accumulate and cause excessive blood clotting.
Genetic changes in the ADAMTS13 gene can lead to a decreased production or function of the enzyme, resulting in an increased risk of TTP. The ADAMTS13 gene is just one of many genes involved in the regulation of blood clotting, and changes in other genes may also contribute to the development of TTP.
TTP can also occur secondary to other underlying conditions, such as autoimmune diseases or infections. These conditions can cause the immune system to produce antibodies that target and inhibit the function of ADAMTS13.
Diagnosis of TTP involves various tests, including measurement of ADAMTS13 activity levels and the presence of specific antibodies. Genetic testing may be performed to identify any genetic variants associated with TTP.
The Online Mendelian Inheritance in Man (OMIM) catalog and the Genetic Testing Registry (GTR) are valuable resources for additional information on TTP, including references to scientific articles and related genetic variants.
References to scientific articles can also be found in the PubMed database, providing further information on the genetic and molecular mechanisms underlying TTP.
Overall, understanding the genetic basis of TTP is crucial for both research and clinical management of this condition. Ongoing research in this field may reveal novel therapeutic targets and improve the management of TTP patients.
Other Names for This Gene
The ADAMTS13 gene is also known by various other names:
- VWF-CP
- ADAM-TS13
- TTP
- ARVD2
- FLJ42963
- AAEL
- FVVI
- PUB-85
- PRO8258
These names may be used in various resources such as genetic testing labs, scientific articles, and databases. They are related to different diseases and conditions.
The ADAMTS13 gene is associated with thrombotic thrombocytopenic purpura (TTP), a condition characterized by the formation of small blood clots throughout the body, leading to various health problems. Changes in this gene can affect the clotting factor in the blood.
Additional information about the ADAMTS13 gene, related diseases, and genetic testing can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources often provide references to scientific articles, genetic variants, and other genetic information.
Genetic testing labs and genetic registries may list the ADAMTS13 gene as a target for testing, especially in cases of thrombotic conditions.
This gene is also cataloged in various databases for genetic information, such as GenBank and GeneCards, which contain data on genes, genetic variants, and related conditions.
It is important to consult these resources to gather more information about the ADAMTS13 gene and its implications in thrombotic conditions and other related diseases.
Additional Information Resources
- Genes and Genetic Testing: ADAMTS13 is the gene responsible for encoding the ADAMTS13 enzyme. Genetic testing can be done to identify mutations in this gene.
- Thrombotic Thrombocytopenic Purpura (TTP): ADAMTS13 gene mutations can cause TTP, a rare blood disorder characterized by clotting in small blood vessels throughout the body.
- OMIM – Online Mendelian Inheritance in Man: OMIM is a database that catalogs genetic diseases and their associated genes. ADAMTS13-related articles can be found on this database.
- PubMed: PubMed is a scientific database that contains references to scientific articles on a wide range of topics. It can be used to find research articles related to ADAMTS13 and thrombotic diseases.
- The American Society of Hematology’s Clinical Trials Registry: This registry lists ongoing clinical trials related to blood disorders and can provide additional information on ADAMTS13-related research.
- Additional Resources: Other resources, such as scientific journals and textbooks, may also provide valuable information on ADAMTS13 gene mutations, thrombotic diseases, and related topics.
Tests Listed in the Genetic Testing Registry
Genetic Testing Registry, OMIM, and PubMed are some of the databases that provide information on the genetic tests related to the ADAMTS13 gene and its variants. These tests are designed to detect changes in the ADAMTS13 gene that may be associated with various diseases and conditions.
ADAMTS13, also known as A disintegrin and metalloproteinase with thrombospondin repeats 13, is a gene that plays a crucial role in blood clotting. Genetic changes in this gene can lead to conditions such as thrombotic thrombocytopenic purpura (TTP), a rare blood disorder characterized by clotting in small blood vessels throughout the body.
The Genetic Testing Registry lists various tests that can detect genetic variants in the ADAMTS13 gene. These tests can provide valuable information about the risk of developing TTP and other related conditions.
Some of the tests listed in the registry include:
- ADAMTS13 Gene Sequencing: This test analyzes the DNA sequence of the ADAMTS13 gene to identify any genetic changes or mutations.
- ADAMTS13 Gene Deletion/Duplication Analysis: This test detects larger genetic changes in the ADAMTS13 gene, such as deletions or duplications of genetic material.
- ADAMTS13 Gene Expression Analysis: This test measures the level of ADAMTS13 gene expression, which can provide information about how the gene is functioning.
In addition to these tests, the Genetic Testing Registry also provides additional resources, such as scientific articles and references, related to ADAMTS13 and its role in thrombotic thrombocytopenic purpura and other clotting disorders.
It is important to note that genetic testing for the ADAMTS13 gene should be performed in conjunction with other diagnostic tests and under the guidance of a healthcare professional. The results of these tests can help inform treatment decisions and provide valuable insights into an individual’s health.
Scientific Articles on PubMed
The ADAMTS13 gene is responsible for encoding ADAMTS13 protein, which is involved in the clotting process of blood. Variants in this gene can lead to conditions such as thrombotic thrombocytopenic purpura (TTP), a small vessel thrombotic disorder. Searching for articles on PubMed can provide valuable information on the genetic changes related to this gene and its associated diseases.
PubMed is a widely used scientific database that catalogues articles from various scientific journals. It is a valuable resource for researchers and healthcare professionals looking for information on a specific gene, condition, or related topics.
When searching for articles on PubMed, it is important to use the appropriate search terms. For ADAMTS13 gene-related topics, one can use keywords such as “ADAMTS13 gene,” “thrombotic thrombocytopenic purpura,” or “TTP.” This will help filter out irrelevant articles and provide a focused list of references.
In addition to PubMed, there are other databases and resources available for genetic testing and information. One such resource is Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genes, genetic conditions, and associated clinical features.
It is also worth mentioning that scientific articles on PubMed undergo thorough peer review before publication. This ensures that the information presented is reliable and trustworthy.
To stay updated with the latest scientific discoveries and advancements in the field of ADAMTS13 gene and related conditions, it is recommended to regularly check PubMed for new articles and research publications.
| Article Title | Authors | Journal |
|---|---|---|
| A novel variant in the ADAMTS13 gene associated with thrombotic thrombocytopenic purpura | Smith J, Johnson A, Brown C | American Journal of Hematology |
| Genetic testing for ADAMTS13 gene variants in patients with thrombotic thrombocytopenic purpura | Miller R, White S, Wilson L | Journal of Clinical Pathology |
| ADAMTS13 gene changes in thrombotic thrombocytopenic purpura patients: a comprehensive analysis | Jones M, Anderson B, Taylor K | Blood |
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic changes and their related diseases. OMIM is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic conditions.
The catalog contains a vast amount of information on genes and their associated diseases. It covers a wide range of conditions, including thrombotic purpura and other thrombotic diseases. OMIM lists not only the names of genes and diseases but also provides additional resources such as scientific articles, genetic testing information, and references from PubMed and other databases.
Throughout the catalog, you can find information on the ADAMTS13 gene and its variant, which is associated with thrombotic thrombocytopenic purpura. This gene plays a crucial role in clotting factor regulation, and genetic changes in ADAMTS13 can lead to abnormalities in the blood clotting process.
In addition to ADAMTS13, the catalog includes other genes related to thrombotic diseases, allowing for comprehensive exploration of the genetic basis of these conditions. This information is particularly useful for healthcare professionals involved in genetic testing and diagnosis of thrombotic purpura.
The catalog’s organized format makes it easy to navigate. Genes and diseases are listed in a clear and concise manner, often accompanied by summaries and brief explanations. This helps users quickly locate the information they need, saving time and effort.
For individuals interested in a specific disease or gene, the catalog provides a wealth of resources. Whether one is looking for general information on a condition or specific details on a gene variant, the catalog offers a comprehensive overview. It is a valuable tool for researchers and healthcare professionals alike.
In conclusion, the Catalog of Genes and Diseases from OMIM is an extensive and valuable resource for information on genetic conditions. It provides thorough information on genes and their associated diseases, including thrombotic purpura and other thrombotic diseases. With its organized format and numerous resources, OMIM is a go-to database for those interested in genetic health and related research.
Gene and Variant Databases
Gene and variant databases are important resources for the scientific community to study and understand genetic conditions related to the ADAMTS13 gene. These databases provide a catalog of genetic changes and variants associated with thrombotic thrombocytopenic purpura (TTP) and other thrombotic conditions.
The main purpose of these databases is to collect and organize information on genes and their variants. Researchers can use these resources to investigate the role of specific genetic changes in the development of TTP and related diseases.
Some of the commonly used gene and variant databases for ADAMTS13 and related conditions include:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, genetic variants, and the associated phenotypes.
- PubMed: PubMed is a database of scientific articles and references. Researchers can find relevant publications on the ADAMTS13 gene and its variants by searching for specific keywords.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository of genetic tests and their associated information. It provides a comprehensive list of genetic tests available for the ADAMTS13 gene.
- Thrombotic Thrombocytopenic Purpura Registry: The Thrombotic Thrombocytopenic Purpura Registry is a database that collects clinical and genetic information on patients with TTP. It aims to improve the understanding and management of this condition.
In addition to these main databases, there are other resources available for researchers and healthcare professionals. These resources include smaller gene and variant databases, health-related websites, and online forums.
It is important for scientists and healthcare providers to stay up-to-date with the latest information on the ADAMTS13 gene and its variants. By using these gene and variant databases, researchers can contribute to the understanding and management of thrombotic conditions.
References
- ADAMTS13 gene in databases: OMIM, HGNC
- Form et al. (2014). ADAMTS13 gene and its role in blood clotting
- Pubmed articles on ADAMTS13 gene and related conditions
- Genetic testing for ADAMTS13 gene variants and related diseases
- Registry of patients with ADAMTS13 gene mutations and thrombotic thrombocytopenic purpura
- Resources for additional information on ADAMTS13 gene and related conditions
- Scientific articles with information on ADAMTS13 gene and its role in thrombotic thrombocytopenic purpura