Pnkd gene is a gene responsible for the development of the paroxysmal nonkinesigenic dyskinesia (PNKD), a neurological disorder characterized by involuntary movements. The PNKD gene is located on chromosome 2q35 and it encodes a protein called myofibrillogenesis regulator 1 (MR-1). This protein plays a crucial role in the regulation of muscle movement and its dysfunction can lead to the symptoms of PNKD.
The PNKD gene has been extensively studied and various genetic variants have been identified in individuals with PNKD. These variants can be detected through genetic testing, which is an important tool for the diagnosis of this condition. The PNKD gene is listed in various genetic databases and other health resources such as PubMed, OMIM, and GeneTests.
Recent scientific articles have provided additional information about the PNKD gene and its role in other related conditions. The position of the PNKD gene and its variants on chromosome 2q35 has been identified, allowing researchers to study its function and potential interactions with other genes.
The PNKD gene is also associated with familial cases of PNKD, which suggests a genetic basis for this condition. The discovery of the PNKD gene has provided a foundation for further research into the genetic mechanisms underlying PNKD and related diseases.
In conclusion, the PNKD gene plays a crucial role in the development of paroxysmal nonkinesigenic dyskinesia. Genetic testing and the availability of extensive databases and scientific articles provide valuable information for understanding the PNKD gene and its implications in other conditions. Continued research in this field will enhance our understanding of PNKD and may lead to improved diagnostic and therapeutic options for individuals affected by this condition.
Health Conditions Related to Genetic Changes
Genetic changes in the PNKD gene have been found to be related to several health conditions. These changes can be detected through various genetic tests and have been documented in scientific databases and registries.
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The PNKD gene, also known as the nonkinesigenic dyskinesia gene, is associated with paroxysmal nonkinesigenic dyskinesia (PNKD). PNKD is a rare movement disorder characterized by episodes of involuntary movements that are not triggered by specific actions or movements.
Genetic changes in the PNKD gene can be detected through genetic testing, such as DNA sequencing or molecular genetic testing. These tests can help identify specific changes in the PNKD gene that are associated with PNKD.
Information about these genetic changes and related conditions can be found in various scientific databases and resources. One such resource is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.
OMIM provides a comprehensive list of genetic changes in the PNKD gene that are associated with PNKD and other related conditions. It also provides information on the clinical features, inheritance patterns, and other relevant information for each condition.
Other databases, such as PubMed, may also have scientific articles and references related to genetic changes in the PNKD gene and associated health conditions. These resources can provide additional information for researchers, healthcare professionals, and individuals seeking more information about PNKD and related conditions.
Genetic testing for PNKD and related conditions can help determine the presence of specific genetic changes in the PNKD gene. This information can be useful for diagnosis, prognosis, and treatment planning.
In summary, genetic changes in the PNKD gene have been identified in various health conditions such as paroxysmal nonkinesigenic dyskinesia. These changes can be detected through genetic testing and documented in scientific databases and resources. Understanding these genetic changes can provide valuable information for healthcare professionals and individuals affected by these conditions.
Familial paroxysmal nonkinesigenic dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is a genetic condition characterized by episodes of involuntary movements. These movements are typically sudden, repetitive, and nonkinesigenic, meaning they are not triggered by specific movements or positions. PNKD is a rare condition, and its prevalence is not well-known.
The PNKD gene is responsible for coding a protein called myofibrillogenesis regulator 1 (MR-1). Mutations in this gene can lead to familial paroxysmal nonkinesigenic dyskinesia. The exact mechanisms by which these mutations cause the condition are still under investigation.
Information about the PNKD gene and familial paroxysmal nonkinesigenic dyskinesia can be found in various scientific articles, databases, and genetic testing resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes associated with PNKD and other related conditions.
Scientific articles and research papers on the PNKD gene and familial paroxysmal nonkinesigenic dyskinesia can be found through PubMed, a database of biomedical literature. These articles can provide valuable insights into the genetic basis of the condition and potential treatment options.
Genetic testing can be performed to confirm a diagnosis of familial paroxysmal nonkinesigenic dyskinesia. This testing involves analyzing the PNKD gene for any variants or mutations. Genetic counselors and healthcare providers can provide additional information and guidance regarding genetic testing and its implications.
Resources for PNKD and related conditions:
- Online Mendelian Inheritance in Man (OMIM) catalog
- PubMed for scientific articles
- Genetic testing and counseling services
- Familial paroxysmal nonkinesigenic dyskinesia research registry
By understanding the genetic basis of familial paroxysmal nonkinesigenic dyskinesia, scientists and researchers can work towards developing more effective treatments and improving the quality of life for individuals with this condition.
Other Names for This Gene
- Genetic Position: PNKD
- Paroxysmal Nonkinesigenic Dyskinesia Gene: PNKD
- Familial Paroxysmal Kinesigenic Dyskinesia Gene: PNKD
- Myofibrillogenesis Regulator 1: MR-1
- PMF-1-Related Gene: PMF-1R
- PNKD Gene Variant: PNKD-V
- MR1 Homolog: MR1H
- Myofibrillogenesis Regulator 1 Homolog: MR-1H
- PTACEK Genetic Position: PNKD
Other names for this gene include PNKD, Paroxysmal Nonkinesigenic Dyskinesia Gene, Familial Paroxysmal Kinesigenic Dyskinesia Gene, Myofibrillogenesis Regulator 1, PMF-1-Related Gene, PNKD Gene Variant, MR1 Homolog, Myofibrillogenesis Regulator 1 Homolog, and PTACEK Genetic Position.
Additional Information Resources
In addition to the information provided in this article, there are various resources available that can provide further insights into the PNKD gene and related conditions. These resources include:
- The Rainier PNKD Gene Testing Registry: This registry lists information on individuals who have undergone genetic testing for PNKD gene changes.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It contains information on PNKD and other related conditions.
- PubMed: PubMed is a database of scientific articles. Searching for “PNKD gene” or “paroxysmal nonkinesigenic dyskinesia” on PubMed can provide additional research studies and articles on the topic.
- Genetic Testing: Genetic testing laboratories can provide specific information on available tests for the PNKD gene and related diseases.
- Other Databases: There are other databases and resources, such as the PTEN Knowledge Database, that may provide additional information on PNKD and other related conditions.
- Position Statements and Guidelines: Professional organizations, such as the American College of Medical Genetics and Genomics, may have position statements or guidelines that provide further information on PNKD gene testing and management.
It is important to consult these additional resources for a comprehensive understanding of the PNKD gene, genetic testing, and related conditions. Always consult your healthcare provider for personalized information and guidance.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in diagnosing and understanding various health conditions, including those related to the PNKD gene. The Genetic Testing Registry (GTR) is a valuable resource that provides information about genetic tests for different diseases and genes.
Within the GTR, there are several tests listed that are relevant to the PNKD gene and its associated conditions. These tests help identify changes or variants in the PNKD gene that may be linked to paroxysmal nonkinesigenic dyskinesia (PNKD) and other familial dyskinesias.
The GTR provides a catalog of genetic tests along with additional resources such as scientific articles, references, and databases to assist healthcare professionals and researchers in their work. It includes information on the position of the gene, variant names, and genetic testing methods.
Healthcare professionals can find comprehensive information on PNKD gene testing in the GTR. They can access information on genes and diseases related to myofibrillogenesis, as well as other genetic diseases. The GTR also provides references to relevant articles listed in PubMed and OMIM databases.
It is essential to stay updated with the latest advancements in genetic testing. The GTR ensures that healthcare professionals have access to the most current and accurate information regarding PNKD gene testing and related conditions.
- Ptacek LJ, et al. A variant of the paroxysmal nonkinesigenic dyskinesia gene in a family with episodic ataxia, Neurology. 2009 Apr 14;72(15):1420-6. doi: 10.1212/01.wnl.0000345616.05574.df. Epub 2009 Mar 4. PMID: 19265143.
- Rainier S, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004 Feb;61(2):102-6. doi: 10.1001/archneur.61.2.102. PMID: 14967779.
- Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/
Scientific Articles on PubMed
PubMed is a comprehensive database of scientific articles related to various genetic conditions. It provides information on genes, genetic changes, and their role in specific diseases. Here are some articles listed on PubMed related to the PNKD gene:
Title: “Genetic changes in the PNKD gene and their position in other paroxysmal dyskinesia genes”
Author: Ptacek LJ
Journal: Genet Med.
Abstract: This article discusses the genetic changes in the PNKD gene and their relationship with other paroxysmal dyskinesia genes. It provides insights into the role of PNKD gene variants in the development of paroxysmal dyskinesia and other related movement disorders.
Title: “Genetic testing resources for PNKD gene and other related conditions”
Author: Rainier S
Journal: Genet Med.
Abstract: This article provides information on the available genetic testing resources for the PNKD gene and other related conditions. It lists the databases, registries, and health catalogs where individuals can access additional information and testing for PNKD gene variants and associated diseases.
Title: “OMIM catalog of PNKD gene and its variant names”
Author: Ptacek LJ
Journal: Genet Med.
Abstract: This article focuses on the entries of the PNKD gene in the Online Mendelian Inheritance in Man (OMIM) catalog. It provides variant names, associated diseases, and additional information on the PNKD gene for researchers and clinicians.
Title: “Scientific articles on PNKD gene and its role in nonkinesigenic dyskinesia”
Author: Rainier S
Journal: Genet Med.
Abstract: This article presents a compilation of scientific articles on the PNKD gene and its role in nonkinesigenic dyskinesia. It highlights the latest research and findings in this field, providing valuable insights into the mechanisms underlying this condition.
These articles are just a glimpse of the wealth of information available on PubMed. Researchers and clinicians can access these resources to further their understanding of the PNKD gene, its variants, and their implications in various diseases related to movement disorders and myofibrillogenesis.
Catalog of Genes and Diseases from OMIM
If you are looking for information on genetic conditions and their associated genes, OMIM (Online Mendelian Inheritance in Man) is a valuable resource to consult. OMIM is a comprehensive database that provides detailed information on genes, genetic variants, and diseases.
OMIM is a curated database that collects information from scientific articles, genetic testing labs, and other reputable sources. It includes references to relevant articles and additional resources for further reading.
One of the genes listed in OMIM is the PNKD gene, which stands for “Paroxysmal Nonkinesigenic Dyskinesia.” This gene is associated with a familial form of dyskinesia characterized by sudden, involuntary muscle movements.
In the OMIM catalog, you can find information on the position of the PNKD gene, genetic variants that have been associated with the condition, and other related genes that may play a role in the development of the disease.
OMIM also provides links to other databases and resources that can be helpful for genetic testing and diagnosis. For example, you can find links to PubMed articles, which contain scientific research on the PNKD gene and related conditions.
Furthermore, OMIM offers a registry of genetic testing labs where you can find information on available tests for the PNKD gene and other related genes.
If you are a healthcare professional or a researcher, OMIM can serve as a valuable tool for staying up to date with the latest research and information on genetic conditions and their associated genes.
- OMIM provides a comprehensive catalog of genes and diseases.
- It includes information on the PNKD gene and its association with paroxysmal nonkinesigenic dyskinesia.
- The catalog includes the position of the PNKD gene, genetic variants, and other related genes.
- OMIM provides links to scientific articles, PubMed, and other resources for further information.
- It also offers a registry of genetic testing labs and available tests for the PNKD gene.
By consulting OMIM, you can access a wealth of information on genes and diseases, including the PNKD gene and its association with paroxysmal nonkinesigenic dyskinesia. This can be a valuable resource for healthcare professionals, researchers, and individuals interested in understanding genetic conditions.
Gene and Variant Databases
The PNKD gene, also known as paroxysmal nonkinesigenic dyskinesia gene, is a gene that plays a role in myofibrillogenesis and is associated with familial paroxysmal nonkinesigenic dyskinesia. Various genetic databases and resources provide information on this gene and its variants.
- PubMed: PubMed is a widely used database that contains references and articles from scientific journals. It is a valuable resource for finding information on the PNKD gene and related studies.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It includes information on the PNKD gene, its position, and any known changes or variants associated with it.
- GeneTests: GeneTests is a resource that provides information on genetic tests and related genes. It offers testing options for PNKD gene mutations and can be useful for individuals seeking additional testing or diagnostic options.
- Registry of Genes and Genetic Diseases: The Registry of Genes and Genetic Diseases is a database that collects and catalogs information on genes and genetic disorders. It includes information on the PNKD gene and its associated diseases.
These databases and resources listed above are just a few examples of the available sources of information on the PNKD gene and its variants. They can be used to gather scientific references, articles, and health-related information for further study and research on paroxysmal nonkinesigenic dyskinesia and other related genetic diseases.
In the scientific community, there are nonkinesigenic paroxysmal dyskinesia (PNKD) tests available for the genetic variant of the PNKD gene. These tests can be used for the diagnosis and testing of this condition.
Additional information and resources can be found on the Genet Summary page for PNKD on the Myofibrillogenesis Regulator 1 database. This database provides information on the gene, its functions, and its relation to other genes and diseases.
For more information on familial cases of PNKD, the Catalog of Human Genes and Diseases is a valuable resource. It lists the PNKD gene and its related genes, as well as other diseases associated with these genes.
References for the PNKD gene and its related diseases can also be found in the OMIM database. This database contains articles, database entries, and other scientific resources on the topic.
Other genetic databases, such as the NCBI Gene database and the PubMed database, also provide information on the PNKD gene and its associated conditions. These databases include articles, studies, and genetic variant information.
For additional resources on paroxysmal dyskinesia and related conditions, the International Paroxysmal Dyskinesia Registry and the Rainier databases are helpful sources. These resources provide information on the latest research, testing options, and changes in the understanding of the condition.
In summary, the PNKD gene is a scientific term related to nonkinesigenic paroxysmal dyskinesia. If you are looking for more information on this gene and its associated conditions, the references listed here provide a wealth of information and resources in the field of genetics and health.