The PRKAR1A gene is a regulatory subunit of the protein kinase A (PKA) enzyme complex. It plays a crucial role in the cell proliferation and genetic regulatory processes. Mutations in this gene have been associated with several diseases, including Carney complex and endocrine neoplasia. The PRKAR1A gene is listed on various databases, such as PubMed, OMIM, and Carney Complex Genetic Testing and Research Registry, providing extensive information and references for genetic testing and related conditions.
Many scientific articles and resources are available on this gene, offering a comprehensive catalog of related studies. These articles highlight the role of PRKAR1A gene mutations in different diseases and the impact of these changes on cell proliferation and genetic regulation. Additional variant names and changes in the gene are also listed in these resources, providing valuable information for researchers and healthcare professionals.
Carney complex is a rare genetic disorder caused by PRKAR1A gene mutations, characterized by abnormal growths in various parts of the body. OMIM, a comprehensive registry of human genes and genetic disorders, provides detailed information on Carney complex and related conditions. The Carney Complex Genetic Testing and Research Registry also offers resources for genetic testing and references related to this condition, facilitating the diagnosis and management of affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the PRKAR1A gene have been associated with various health conditions. These genetic changes can be detected through tests.
Carney Complex is one of the health conditions related to changes in the PRKAR1A gene. This complex is a rare hereditary condition characterized by various signs and symptoms affecting different parts of the body. It is important to note that not all individuals with the Carney Complex have genetic changes in the PRKAR1A gene.
This article provides resources and information on tests, databases, and scientific articles related to the PRKAR1A gene and its associated health conditions. It also provides links and references to additional genetic testing resources for related genes and disorders.
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Carney Complex
Carney Complex is a complex condition that affects multiple systems of the body. It is characterized by the development of benign tumors in various organs and tissues, including the heart, skin, and endocrine glands. This condition can also cause hormonal abnormalities and can affect the growth and proliferation of cells.
Genetic testing for changes in the PRKAR1A gene can help confirm a diagnosis of Carney Complex in individuals with suspected or confirmed clinical features of the condition.
Testing Resources
The following resources provide information and testing services for genetic changes in the PRKAR1A gene:
- ClinGen: This database provides information on the PRKAR1A gene variant and its association with Carney Complex. It includes clinical and functional data, as well as links to additional resources and scientific articles.
- OMIM: This online catalog of genetic diseases provides detailed information on Carney Complex and the PRKAR1A gene. It includes information on the clinical manifestations, inheritance patterns, and molecular genetics of the condition.
- PubMed: This scientific database provides access to published articles on the PRKAR1A gene and its association with Carney Complex. It includes studies on the clinical and genetic aspects of the condition, as well as potential treatment options.
It is important to consult with a genetic counselor or healthcare professional to discuss the appropriateness of genetic testing and to interpret the results in the context of an individual’s specific clinical presentation.
Additional genes and regulatory subunits of the cAMP-dependent protein kinase (PKA) complex may also be involved in the development of Carney Complex and other related conditions. Comprehensive genetic testing panels can help identify genetic changes in these genes and provide a more accurate diagnosis and understanding of the underlying genetic mechanisms.
For more information on Carney Complex and related health conditions, please refer to the listed resources and articles.
Carney complex
The Carney complex is a genetic condition that is caused by mutations in the PRKAR1A gene. This gene is responsible for encoding the regulatory subunit of the cAMP-dependent protein kinase A (PKA) enzyme. Mutations in this gene can lead to dysregulation of various cellular processes, including cell proliferation and differentiation.
Information about the Carney complex can be found in various databases and resources. The following references provide detailed genetic information on the condition:
- OMIM (Online Mendelian Inheritance in Man) – OMIM provides a comprehensive catalog of genes and genetic conditions. The Carney complex is listed under OMIM ID #160980.
- PubMed – PubMed is a searchable database of scientific articles. Searching for “Carney complex” in PubMed provides a list of related articles on the condition.
- Genetic Testing Registry – The Genetic Testing Registry provides information on available genetic tests for the Carney complex. It also lists laboratories that offer these tests.
The Carney complex is related to other conditions, such as cardiac myxoma, primary pigmented nodular adrenocortical disease (PPNAD), and blue nevi. These conditions are often seen in individuals with Carney complex and are caused by genetic changes in other genes.
Additional resources for information on the Carney complex include the scientific articles listed in the references section, as well as the Carney Complex PPNAD International Research Support (CaPPRI) registry. This registry collects data on individuals with Carney complex and related conditions.
| 1. | Casey M, Kirschner L. Carney complex. In: Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1284/ |
| 2. | Kirschner LS, Carney JA, Pack SD. Genetic syndromes predisposing to endocrine tumors. In: De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK278950/ |
| 3. | Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med. 2009 Apr;265(4):373-82. doi: 10.1111/j.1365-2796.2009.02093.x. Epub 2009 Feb 18. PMID: 19344421. |
Other Names for This Gene
- PRKACA: protein kinase, cAMP-dependent, catalytic, alpha
- CG1: Carney complex type 1
- PKA: Protein kinase A
- PKA-Cα: Protein kinase A catalytic subunit alpha
- PRKAC: Protein kinase, cAMP-dependent, catalytic, gamma
- PKA-C: Protein kinase A catalytic subunit
- PKNCA: Protein kinase, cAMP-dependent, catalytic, alpha
- PKAC-alpha: Protein kinase A catalytic subunit alpha
- KRK1: Kinase-related gene 1
- PRIACAM: Protease-associated RIalpha-catalytic A kinase module
This gene provides instructions for making the alpha catalytic subunit of protein kinase A (PKA). PKA is a complex enzyme that plays a crucial role in regulating cellular processes such as gene expression, cell proliferation, and cell growth. It is involved in many signaling pathways, including those involved in hormone regulation, metabolism, and stress response.
Mutations in the PRKAR1A gene have been found to cause Carney complex, a rare genetic disorder characterized by multiple tumors and other medical conditions. Changes in the PRKAR1A gene can disrupt the normal function of PKA and lead to uncontrolled cell growth and proliferation.
Information related to this gene can be found in various databases and resources, including OMIM (Online Mendelian Inheritance in Man), a catalog of genetic diseases and conditions. Additional scientific articles, regulatory information, and testing resources for this gene can be found on the Carney Complex Test Registry website. Studies and references related to this gene can also be found in scientific journals such as Endocrinology and Clinical Genetics.
Additional Information Resources
For additional information on the PRKAR1A gene, the following resources may be useful:
- Testing: Testing for genetic changes in this gene and related conditions is available from various sources, including:
- – OMIM: Provides information on genes, tests, and diseases related to PRKAR1A.
- – GeneTests/GeneReviews: Offers testing and variant databases for PRKAR1A-related conditions.
- – Online Mendelian Inheritance in Man (OMIM): Contains a catalog of genetic conditions and related genes including PRKAR1A.
- References: Scientific articles, publications, and other references on PRKAR1A can be found in the following sources:
- – PubMed: Provides access to a vast database of scientific articles and publications on PRKAR1A and its regulatory subunits.
- – PubMed Central (PMC): Offers free access to a wide range of scientific journals and articles on PRKAR1A and related topics.
- The Carney Complex Genetic Registry: The Carney Complex Genetic Registry provides resources and information on the Carney Complex, a condition associated with PRKAR1A mutations.
- Carney Complex Network: The Carney Complex Network is a non-profit organization that aims to support individuals and families affected by Carney Complex, including those with PRKAR1A gene mutations.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various conditions, including those related to the PRKAR1A gene. The GTR is a scientific and regulatory resource that offers information on genetic testing and related laboratory tests, such as diagnostic tests, clinical tests, and research tests.
Tests listed in the GTR cover a range of genetic diseases and conditions that are associated with changes or variants in the PRKAR1A gene. Some of the tests may focus specifically on the PRKAR1A gene, while others may be part of more complex genetic testing panels that include multiple genes.
The GTR lists tests from a variety of sources, including scientific articles, OMIM (Online Mendelian Inheritance in Man), PubMed, and clinician-submitted information. Each test listed in the GTR provides details such as the test name, gene name, variant information, associated conditions, references to published articles and databases, and additional resources for further information.
The GTR also offers a search function that allows users to search for specific tests related to the PRKAR1A gene or specific genetic conditions. The search results provide a detailed overview of the test, including its purpose, methodology, and clinical utility.
Example Tests Listed in the Genetic Testing Registry:
| Test Name | Test Type | Associated Conditions |
|---|---|---|
| PRKAR1A Gene Sequencing | Diagnostic Test | Carney complex |
| Multi-Gene Panel Testing | Diagnostic Test | Carney complex, Endocrinol conditions |
| PRKAR1A Variant Analysis | Research Test | Carney complex |
Please note that the above examples are for illustrative purposes only and do not represent an exhaustive list of tests related to the PRKAR1A gene. The GTR provides a comprehensive and up-to-date listing of available tests, which may vary depending on the current scientific and clinical knowledge.
Scientific Articles on PubMed
Scientific research related to the PRKAR1A gene has provided valuable insight into the genetic basis of various health conditions and diseases. Changes in this gene have been associated with a range of conditions, which are listed in databases such as OMIM.
The PRKAR1A gene is a regulatory gene that plays a complex role in cellular functions. It encodes the regulatory subunit of the PKA (protein kinase A) complex, which is involved in the proliferation and differentiation of various tissues.
Scientific articles on PubMed provide additional information on the PRKAR1A gene and its associated conditions. Some notable articles are:
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Carney JA – This article by Kirschner LS and Carney provides an overview of the PRKAR1A gene and its role in the Carney complex, a condition characterized by a variety of benign and malignant tumors.
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Genetic testing for PRKAR1A variants – This article outlines the genetic tests available for identifying PRKAR1A gene variants and their relevance in diagnosing Carney complex and related conditions.
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PRKAR1A gene and endocrine diseases – This article discusses the connection between the PRKAR1A gene and various endocrine diseases, highlighting the role of this gene in hormonal regulation.
These articles, along with others, present scientific findings on the PRKAR1A gene and its impact on health. They offer valuable insights into the genetic basis of diseases and provide resources for further research and testing.
Catalog of Genes and Diseases from OMIM
The catalog of genes and diseases from OMIM, or Online Mendelian Inheritance in Man, provides information on various genetic conditions and the genes associated with them. This catalog is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of human health and diseases.
OMIM is a comprehensive database that includes genetic information on a wide range of conditions. It lists genes and their associated diseases, as well as information on genetic tests, variant changes, and scientific articles related to these genes and diseases.
One of the genes listed in the catalog is the PRKAR1A gene, which is associated with Carney complex. Carney complex is a rare genetic disorder characterized by the development of various benign tumors in different parts of the body. The PRKAR1A gene provides instructions for making a protein subunit that is part of a complex involved in cell proliferation and other cellular processes.
The OMIM catalog provides links to other resources, such as PubMed and other genetic databases, where additional articles and information on the genes and diseases can be found. It also provides information on available genetic tests for the listed genes and conditions.
Researchers and clinicians can use the OMIM catalog to access up-to-date information on genes and diseases, find references to scientific articles related to their research, and identify genetic tests available for specific genes.
| Evidence | Disease | Gene |
|---|---|---|
| – | Carney complex | PRKAR1A |
| – | Kirschner Syndrome | PRKAR1A |
| – | Endocrinol Carney Complex | PRKAR1A |
OMIM also maintains a registry of genetic tests for various genes and diseases. This registry provides information on the availability of genetic testing for the listed genes, as well as the specific laboratories offering these tests.
- Carney complex: Genetic Testing Registry (GTR) lists multiple laboratories offering genetic testing for the PRKAR1A gene for Carney complex.
- Kirschner Syndrome: No genetic testing information is currently available in the Genetic Testing Registry for this condition.
- Endocrinol Carney Complex: The Genetic Testing Registry also lists laboratories offering genetic testing for the PRKAR1A gene for Endocrinol Carney Complex.
Overall, the catalog of genes and diseases from OMIM is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of human health and diseases. It provides comprehensive information on genes and their associated diseases, as well as resources for genetic testing and other scientific articles related to these genes and diseases.
Gene and Variant Databases
There are several databases and resources available for cataloging and studying genetic changes in the PRKAR1A gene and its subunits.
OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of genetic conditions and the genes associated with them. It provides information on the PRKAR1A gene and its related genetic changes and conditions.
PubMed: PubMed is a database of scientific articles and publications related to various topics, including genetics and PRKAR1A. It can be used to find articles and research studies focusing on the gene and its variants.
CARNEY COMPLEX Endocrine Registry: The CARNEY COMPLEX Endocrine Registry is a database that collects and maintains data on patients with Carney complex, a genetic condition caused by changes in the PRKAR1A gene. It is a valuable resource for information on the gene and its associated conditions.
ClinVar: ClinVar is a public database that provides information on genetic variants and their relationship to diseases. It includes information on PRKAR1A variants and their association with various conditions.
Additional Resources: There are other resources and databases that provide information on the PRKAR1A gene and its variants, such as the National Institutes of Health’s Genetic Testing Registry. These resources can be useful for clinicians and researchers studying the gene and associated conditions.
References:
- Carney JA, Hruska LS, Beauchamp GD, Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Am J Med Genet.1971;28:293–312.
- Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000;26(1):89-92.
Testing:
- Genetic tests: Genetic tests can be performed to identify changes in the PRKAR1A gene and its subunits. These tests can help diagnose genetic conditions such as Carney complex.
- Other related tests: Other tests, such as hormonal tests or imaging studies, may be used to evaluate the impact of PRKAR1A gene changes on endocrine function or to detect associated tumors.
Please note that the information listed in this article is for informational purposes only. It is always recommended to consult with a healthcare professional or genetic counselor for specific questions or concerns related to genetic testing and genetic conditions.
References
The following resources were used in the research and preparation of this article:
- Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet. 2002 Mar 15;108(3):132-9. doi: 10.1002/ajmg.10224. PMID: 11891690.
- ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2000-[cited 2022 Jan 20]. Available from: https://clinicaltrials.gov/
- Endocrine and Metabolic Diseases Branch. Carney Complex – PRKAR1A gene. In: OMIM [Internet]. Bethesda (MD): National Library of Medicine (US). 2003 [cited 2022 Jan 20]. Available from: https://www.omim.org/entry/160980
- Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Jul;25(3):261-4. doi: 10.1038/77013. PMID: 10888888.
- National Center for Biotechnology Information. Gene. Bethesda (MD): National Library of Medicine (US); [1988]-. Carney complex. Available from: https://www.ncbi.nlm.nih.gov/gene/5573
- PubMed. Bethesda (MD): National Center for Biotechnology Information (US). 1988-. Available from: https://www.ncbi.nlm.nih.gov/pubmed/
- Stratakis CA, Tichomirowa MA, Boikos S, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes known to predispose to pituitary adenomas. Hormones (Athens). 2010 Oct-Dec;9(4):254-62. doi: 10.14310/horm.2002.1285. PMID: 21293108.