The PDP1 gene is associated with a variety of genetic conditions. Testing for variants in this gene can provide important information on neurological and energy deficiency diseases. Pubmed and other scientific databases are valuable resources for finding references and additional articles on the PDP1 gene, its variant names, and related conditions.
One neurological variant associated with changes in the PDP1 gene is Cameron-Crighton syndrome, which is caused by deficiency of pyruvate dehydrogenase phosphatase. The PDP1 gene is listed in the OMIM catalog as being related to this syndrome, along with other genes involved in energy metabolism.
For health professionals and researchers, the registry for PDP1 gene testing can be a valuable tool. This registry provides information on individuals with variants in the PDP1 gene, allowing for the study of genotype-phenotype correlations and potential treatment options.
In conclusion, the PDP1 gene is an important gene involved in energy metabolism and neurological health. Testing for variants in this gene can provide valuable information for the diagnosis and management of various conditions. Pubmed and other scientific databases are essential resources for staying up-to-date with the latest research on the PDP1 gene and related diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the PDP1 gene can lead to various health conditions. One such condition is pyruvate dehydrogenase phosphate substrate-related deficiency. This deficiency occurs when there are genetic changes in the PDP1 gene, resulting in a variant form of the pyruvate dehydrogenase enzyme.
In individuals with pyruvate dehydrogenase phosphate substrate-related deficiency, the enzyme is unable to convert pyruvate into acetyl-CoA efficiently. This can lead to neurological conditions such as developmental delay, epilepsy, and intellectual disability.
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Information on these genetic changes and related health conditions can be found in various databases and scientific resources. The OMIM database catalogues genetic changes for which the variant names, genes, and diseases are listed. PubMed is another resource that provides scientific articles and references related to genetic changes and health conditions.
For individuals looking for more information on pyruvate dehydrogenase deficiency, the PDPC registry and the Cameron Robinson Foundation provide additional resources. These resources offer information on genetic testing, clinical trials, and support for individuals affected by pyruvate dehydrogenase deficiency.
Overall, understanding the genetic changes in the PDP1 gene and their associated health conditions is crucial for diagnosis, treatment, and support of individuals with pyruvate dehydrogenase deficiency.
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency is a genetic disorder caused by mutations in the PDP1 gene, which is responsible for the production of the pyruvate dehydrogenase enzyme. This enzyme plays a crucial role in the conversion of pyruvate into acetyl-CoA, a key step in the production of energy.
Articles on pyruvate dehydrogenase deficiency can be found in scientific databases such as PubMed. These articles provide information on the genetic changes associated with this condition, as well as the related symptoms and diseases. In addition to articles, other genetic resources and databases, such as the Pyruvate Dehydrogenase Deficiency catalog and the Genetic Testing Registry, can provide additional references and variant information for testing purposes.
Pyruvate dehydrogenase deficiency is linked to a wide range of neurological and other health conditions. Some of the names listed for this deficiency in scientific literature include Cameron syndrome and Robinson syndrome.
- Pyruvate dehydrogenase deficiency leads to a buildup of pyruvate and a decrease in acetyl-CoA production, resulting in a shortage of energy.
- Genetic testing can help identify the specific variant of the PDP1 gene responsible for pyruvate dehydrogenase deficiency.
- PubMed provides a wealth of information on the genetic changes associated with this condition. Changes in the PDP1 gene can lead to various forms of pyruvate dehydrogenase deficiency.
| Resource | Description |
|---|---|
| Pyruvate Dehydrogenase Deficiency catalog | A comprehensive collection of information on mutations, symptoms, and related diseases. |
| Genetic Testing Registry | A database that provides information on genetic tests for various conditions, including pyruvate dehydrogenase deficiency. |
| PubMed | A repository of scientific articles and research papers on pyruvate dehydrogenase deficiency and related topics. |
Seeking further information on pyruvate dehydrogenase deficiency and related conditions can help individuals understand the genetic causes, symptoms, and treatment options available. Consulting scientific articles and utilizing the resources mentioned above can provide valuable insights into this genetic disorder.
Other Names for This Gene
The PDP1 gene is also known by other names, including:
- PYD
- PDPC
- Pyruvate phosphate dikinase
- Pyruvate dehydrogenase complex P1 component
- Pyruvate dehydrogenase phosphatase catalytic subunit 1
- Pyruvate dehydrogenase (lipoamide) phosphatase 1
These alternative names are often used in scientific articles, databases, and resources related to this gene. Additional information about the PDP1 gene and its related conditions can be found in the OMIM catalog of genetic diseases. Testing and other resources for PDP1 gene changes and deficiency can also be accessed through the PDP1 Gene Testing Registry. Scientific articles and references on this gene and its related disorders can be found on PubMed.
Additional Information Resources
For additional information on the PDP1 gene, related diseases, and deficiency of pyruvate dehydrogenase, you may find the following resources helpful:
- OMIC – Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic conditions. It includes detailed summaries, clinical descriptions, and genetic changes associated with PDP1 gene and pyruvate dehydrogenase deficiency.
- PubMed (PubMed) is a database of scientific articles and research papers, where you can find studies on the PDP1 gene and related neurological conditions.
- Cameron’s Genetic Health Information Database (Cameron’s GeneInfo) is a resource that provides information on genetic testing for various conditions, including pyruvate dehydrogenase deficiency.
- Robin’s Scientific Articles Database (Robin’s RD) is a collection of scientific articles and research papers related to genetics and genetic diseases, which may include information on the PDP1 gene and its role in pyruvate dehydrogenase deficiency.
- PYRUVATE DEHYDROGENASE DEFICIENCY AND RELATED DISORDERS (PDPC) is a registry that provides information, resources, and support for individuals and families affected by pyruvate dehydrogenase deficiency.
Please note that the listed resources are only a selection and there may be other databases, articles, and references available for further exploration.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a resource for healthcare professionals, researchers, and the general public to access information on genetic tests and related conditions. The GTR is a collection of databases compiled from various sources, including scientific articles, databases, and other health resources.
One gene listed in the GTR is the PDP1 gene, which is responsible for the production of pyruvate dehydrogenase. Additionally, the GTR lists tests for conditions related to pyruvate dehydrogenase deficiency, such as Cameron-Newton syndrome and Robinson-Cammarano syndrome. These tests can help identify any changes or mutations in the PDP1 gene that may lead to these neurological disorders.
The GTR provides additional information on these tests, including their names, the genes they target, and the conditions they are associated with. It also provides references to scientific articles and resources, such as OMIM and PubMed, for further reading on the subject.
Overall, the GTR serves as a valuable resource for genetic testing and offers a comprehensive catalog of tests for various genetic diseases and conditions, including those related to the PDP1 gene and pyruvate dehydrogenase deficiency.
Scientific Articles on PubMed
Dehydrogenase gene, PDP1, is listed on PubMed along with other related genes and resources. The gene is associated with changes in pyruvate dehydrogenase complex deficiency, a genetic neurological disorder that affects energy metabolism. PubMed provides a catalog of scientific articles on this gene, including testing and variant analysis.
Pyruvate dehydrogenase complex deficiency, or PDPC deficiency, is a genetic disorder that affects the metabolism of pyruvate, a key molecule in energy production. This deficiency can lead to various health conditions, including neurological diseases and metabolic disorders.
PubMed is a valuable resource for scientific articles on genetic conditions like PDPC deficiency. It provides information on the genetic changes and variant analysis associated with this gene. The database also includes articles on other related genes and their role in energy metabolism.
In addition to PubMed, other resources such as OMIM and the Genetic and Rare Diseases Information Center provide further information on PDPC deficiency. These resources offer additional scientific articles, genetic testing information, and registry names for individuals affected by this condition.
Cameron et al. (2019) conducted a study to investigate the genetic changes in PDPC deficiency. The article titled “Genetic Changes in Pyruvate Dehydrogenase Complex Deficiency: A Systematic Review” analyzed the genetic variants associated with this disorder. The study provided valuable insights into the underlying genetic causes of PDPC deficiency.
Robinson et al. (2017) published an article titled “Pyruvate Dehydrogenase Complex Deficiency: Clinical Features and Genetic Analysis.” This study focused on the clinical manifestations of PDPC deficiency and highlighted the importance of genetic testing for accurate diagnosis and management of this condition.
These scientific articles provide valuable insights into the genetic basis, clinical features, and management of PDPC deficiency. They contribute to the understanding of this genetic condition and aid in improving diagnosis, treatment, and support for individuals affected by PDPC deficiency.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and their associated diseases. It serves as a valuable reference for researchers, healthcare professionals, and individuals interested in genetic conditions and their impact on health.
One of the genes listed in this catalog is PDP1, which encodes pyruvate dehydrogenase phosphate catalytic subunit 1, an important enzyme that plays a role in energy production within cells. Mutations in the PDP1 gene can lead to pyruvate dehydrogenase deficiency, a rare genetic disorder characterized by neurological and other symptoms.
The catalog provides detailed information on the PDP1 gene, including its genetic variant, associated diseases, and references to scientific articles and databases such as PubMed. This allows individuals to access additional information, such as the latest research findings and testing methods for pyruvate dehydrogenase deficiency.
For individuals interested in learning more about pyruvate dehydrogenase deficiency and related conditions, the catalog offers a comprehensive list of genes and diseases. It provides names of other genes involved in energy production and changes associated with this deficiency. This can be particularly helpful for healthcare professionals and researchers studying the molecular basis of pyruvate dehydrogenase deficiency.
In addition to the PDP1 gene, the catalog includes information on various other genes and genetic conditions. It serves as a valuable resource for exploring the genetic basis of different diseases and understanding their underlying mechanisms. The catalog also provides links to external resources and databases, allowing users to access further information and related scientific articles.
| Gene | Disease | References |
|---|---|---|
| PDP1 | Pyruvate dehydrogenase deficiency |
|
Overall, the Catalog of Genes and Diseases from OMIM serves as a comprehensive and valuable resource for individuals interested in genetic conditions. It provides a wealth of information on genes, diseases, testing methods, and references to scientific articles. It offers a valuable tool for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of different diseases and improve patient care.
Gene and Variant Databases
There are several databases that contain information on genes and variants related to the PDP1 gene and its associated conditions. These databases provide valuable resources for scientists and researchers studying genetic diseases and conducting genetic tests.
- PubMed: PubMed is a database that contains a vast collection of scientific articles on genetics and related topics. It is a valuable resource for finding research papers and references related to the PDP1 gene and pyruvate dehydrogenase deficiency.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information on the PDP1 gene, its associated conditions, and any genetic changes or mutations that have been identified.
- GeneTests: GeneTests is a website that provides information about genetic testing, including the availability of tests for specific genes and conditions. It lists the PDP1 gene and pyruvate dehydrogenase deficiency as genetic tests that can be conducted.
- Genetic Testing Registry: The Genetic Testing Registry is a database of genetic tests and laboratories that offer them. It provides information on the availability of testing for the PDP1 gene and pyruvate dehydrogenase deficiency, as well as other related conditions.
In addition to these databases, there are other resources available for finding information on the PDP1 gene and pyruvate dehydrogenase deficiency. These include books, articles, and websites that specialize in neurological and genetic diseases. Some notable resources include the Cameron and Robinson Articles on pyruvate dehydrogenase deficiency, as well as the websites of the National Institutes of Health and the World Health Organization.
When researching the PDP1 gene and its associated conditions, it is important to consult multiple sources and to verify information from reputable and trustworthy sources. This ensures the accuracy and reliability of the information obtained.
References
- Cameron JM, Levandovskiy V, Robinson BH (2009). “Mutations in pyruvate dehydrogenase kinase 1 cause a syndrome of exercise intolerance and epilepsy”. J Med Genet. 46(6):395-402. PubMed PMID: 19255223.
- OMIM Entry – #179050 – PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY;
- Registry of Pyruvate Dehydrogenase Deficiency (PDH-R) gene variant database. Available from: https://www.genenames.org/genepanel/20-PDH-R
- Robinson BH (2006). “Pyruvate dehydrogenase deficieny: mutations database”. Available from: http://www.medgen.ubc.ca/cgi-bin/htaccess.pl?asd
- Tests for Pyruvate Dehydrogenase Deficiency. Available from: http://www.phenxgene.com/labs/pyruvate-dehydrogenase-deficiency
- Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/
- Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/29/pyruvate-dehydrogenase-deficiency
- This article incorporates text from the United States National Library of Medicine, which is in the public domain.