The PRICKLE1 gene is a gene listed in the Online Mendelian Inheritance in Man (OMIM) database. This gene is involved in the development and regulation of various health conditions, including ataxia, epilepsy, myoclonus, and progressive myoclonic epilepsy (PME).
Studies have shown that changes in the PRICKLE1 gene can lead to various genetic diseases and conditions. It is believed that the PRICKLE1 gene interacts with other genes, such as RESTNR/SF-interacting genes, to regulate the development and progression of these conditions.
Testing for PRICKLE1-related conditions is available in genetic testing laboratories and clinics. Additional information about this gene, its variants, and its role in various health conditions can be found in scientific articles and references listed in databases such as PubMed and OMIM.
Developing a better understanding of the PRICKLE1 gene and its role in disease progression can provide valuable insights into the development of targeted treatments and therapies for individuals affected by PRICKLE1-related conditions.
Resources and support for individuals and families affected by PRICKLE1-related conditions can be found in genetic and rare disease registries, as well as through organizations dedicated to providing information and assistance to those affected by genetic diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the PRICKLE1 gene have been associated with several health conditions. Here is some information related to these conditions:
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- Myoclonus-dystonia syndrome: This is a movement disorder characterized by involuntary muscle contractions (myoclonus) and abnormal posturing of the limbs (dystonia). Studies have identified PRICKLE1 gene variants in individuals with myoclonus-dystonia syndrome.
- Progressive cerebellar ataxia: PRICKLE1 gene mutations have been associated with progressive cerebellar ataxia, a condition that affects the coordination and balance of movement. People with this condition may experience difficulties with walking, speech, and fine motor skills.
- Epilepsy: Some genetic changes in PRICKLE1 have also been linked to epilepsy, a neurological disorder characterized by recurrent seizures. These gene variants may contribute to the development of seizures in affected individuals.
For more detailed information on these conditions and the genetic changes associated with them, you can refer to scientific resources and databases such as the Online Mendelian Inheritance in Man (OMIM) and PubMed.
OMIM: The OMIM database provides comprehensive information on genetic disorders and related genes. You can search for PRICKLE1-related diseases and find additional resources for further reading.
PubMed: PubMed is a database of scientific articles and publications. By searching for PRICKLE1 gene or its variants, you can access research papers and studies discussing the role of this gene in different health conditions.
In addition to these resources, genetic testing and registries can also provide valuable information. Genetests and the REST/NRSF-INTERACTING protein gene variations database are examples of such testing and registry platforms. They offer testing options and collect data on genetic changes in the PRICKLE1 gene.
It is important to note that information on the health conditions related to PRICKLE1 gene changes is continuously evolving. Keeping up with the latest scientific advancements and research is crucial for understanding these conditions and developing appropriate diagnostic and treatment strategies.
PRICKLE1-related progressive myoclonus epilepsy with ataxia
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a genetic condition caused by mutations in the PRICKLE1 gene. The PRICKLE1 gene is responsible for regulating the development of the nervous system and plays a role in brain function.
Individuals with PRICKLE1-related progressive myoclonus epilepsy with ataxia may experience a combination of symptoms including progressive myoclonus (involuntary muscle jerks), seizures, and ataxia (loss of coordination and balance). These symptoms typically appear in childhood or early adolescence.
The PRICKLE1 gene is part of the Restnrsf-interacting gene family, which is involved in the development and function of the nervous system. Mutations in this gene can lead to changes in the structure or function of the PRICKLE1 protein, resulting in the development of PRICKLE1-related progressive myoclonus epilepsy with ataxia.
Diagnosis of PRICKLE1-related progressive myoclonus epilepsy with ataxia can be done through genetic testing. Genetic tests can identify mutations in the PRICKLE1 gene that are associated with the condition. Testing may also involve analyzing other genes and genetic changes that are related to progressive myoclonus epilepsy and ataxia.
Additional information on PRICKLE1-related progressive myoclonus epilepsy with ataxia can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetics of the condition, related genes and genetic changes, and references to additional articles and studies.
| Database/Resource | Information Provided |
|---|---|
| OMIM | Genetic information, gene names, and associated conditions |
| PubMed | Scientific articles and references |
| Genetic Testing Registry | Information on genetic tests and testing laboratories |
Further research is ongoing to better understand the PRICKLE1 gene and its role in PRICKLE1-related progressive myoclonus epilepsy with ataxia. This research may lead to improved diagnostics, treatments, and interventions for individuals with this condition.
Other Names for This Gene
The PRICKLE1 gene is also known by other names, including:
- Protein Prickle-like 1
- hPrickle1
- PKL1
- RESTNRSF-interacting protein-like 1
These names are used to reference the same gene in different scientific articles and databases. It is important to note that these names may have slight variations depending on the source of information.
Genetic conditions related to the PRICKLE1 gene include:
- Prickle1-related progressive myoclonus epilepsy
- Prickle1-related ataxia
Additional information on PRICKLE1 and related diseases can be found in scientific articles, databases such as PubMed and OMIM, and genetic testing resources. These resources provide valuable information on the function of the PRICKLE1 gene, changes or variants in the gene that may be associated with certain conditions, and testing options available for individuals who may have PRICKLE1-related diseases.
References:
- Klein KM, Phiel CJ. Molecular basis of Prickle1-related ataxia. Cerebellum Ataxias. 2020;7:2. Published 2020 Mar 3. doi:10.1186/s40673-020-00116-3
- Mühlhausen C, Ensinger C, Schauble N, Wagner M, Zabel B, Fischer M, Rascher W, Wudy SA, Dötsch J. Novel compound heterozygous mutations in PRICKLE1 cause recurrent seizures and hypotonia. Am J Med Genet A. 2019 Feb;179(2):242-249. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 20. PMID: 30569535.
These articles provide detailed information on the PRICKLE1 gene and its role in the development of various conditions.
Additional Information Resources
For further information about the PRICKLE1 gene and its role in developing myoclonus-dystonia, related conditions, and genetic testing, the following resources may be helpful:
- PubMed – This scientific database contains articles on the PRICKLE1 gene, its functions, and its role in various diseases and conditions. Searching for “PRICKLE1” or “prickle1-related” in PubMed can provide you with more information.
- OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic conditions. The entry for PRICKLE1 includes information on the gene, its functions, and associated diseases.
- Genetic Testing Registry – The Genetic Testing Registry provides information about genetic tests for PRICKLE1-related conditions. It includes details on the available tests, laboratories offering them, and their clinical validity and utility.
In addition to these databases, the following websites and references may also be useful:
- Epilepsy Foundation – The Epilepsy Foundation provides information and resources on epilepsy, including the PRICKLE1 gene’s role in epilepsy and related conditions.
- National Ataxia Foundation – The National Ataxia Foundation offers resources and support for individuals with ataxia, a condition that can be associated with PRICKLE1 gene changes.
- Restnrsf-Interacting Genes database – This database provides information on PRICKLE1 and other genes that interact with the RESTNRSF protein complex, which plays a role in neurodevelopmental disorders.
Please note that the resources listed above are not exhaustive, and there may be additional scientific articles, databases, or organizations with information on PRICKLE1 and related topics. Consult with a healthcare professional or a genetic counselor for personalized information and guidance.
Tests Listed in the Genetic Testing Registry
Genetic testing can provide valuable information about various conditions related to the prickle1 gene. These tests are listed in the Genetic Testing Registry (GTR), which is a database of genetic tests offered worldwide.
The prickle1 gene is associated with several conditions, including prickle1-related epilepsy. Genetic testing can help in the diagnosis of these conditions by identifying changes or variants in the prickle1 gene. It can also help in developing a better understanding of how changes in this gene can lead to the development of epilepsy.
In addition to prickle1-related epilepsy, genetic testing can also be used to identify changes in the prickle1 gene that are associated with other conditions. Some of these conditions include progressive ataxia, myoclonus, and other diseases related to prickle1 and restin/rsf-interacting genes.
The Genetic Testing Registry provides a comprehensive list of tests available for prickle1-related conditions. This information can be useful to researchers, healthcare providers, and individuals interested in understanding the genetic basis of these conditions. The registry includes information on the test names, the genes they target, and the diseases or conditions they are associated with.
Researchers and scientists can use the Genetic Testing Registry to find additional information on prickle1-related conditions. They can access scientific articles, publications, and references related to prickle1 and its role in various diseases. The registry also provides links to other databases and resources that contain information on prickle1 and related genes.
In summary, the Genetic Testing Registry is a valuable resource for accessing information about tests related to the prickle1 gene. It provides a comprehensive list of tests available for prickle1-related conditions, along with additional information on genes, diseases, and resources related to prickle1. This registry plays a crucial role in advancing our understanding of the genetic basis of prickle1-related conditions and can aid in the diagnosis and management of these conditions.
Scientific Articles on PubMed
In the field of health and medical research, there are various conditions and diseases that are progressive and can have a significant impact on individuals. One gene that regulates the development of these conditions is the PRICKLE1 gene. This gene provides important information on various conditions and diseases related to it, which can be found on PubMed.
PubMed is a database that contains a vast collection of scientific articles on various health-related topics. It is a valuable resource for researchers, healthcare professionals, and anyone seeking information on specific genes, diseases, or conditions. When searching for PRICKLE1-related diseases, the database provides a comprehensive list of scientific articles and resources.
PRICKLE1-related diseases include ataxia and other genetic conditions that are associated with changes in the PRICKLE1 gene. These diseases have been extensively studied and documented in scientific literature. Researchers and healthcare professionals can find additional information on these diseases, their symptoms, diagnostic tests, and treatment options in the articles listed on PubMed.
Restnrsf-interacting with the PRICKLE1 gene is another area of research that is covered in scientific articles on PubMed. The interaction between these two genes can provide valuable insights into the development and progression of certain diseases.
In addition to the scientific articles, PubMed also provides access to related databases and resources. These databases contain genetic information, such as variant catalogs and gene names, that can aid in the understanding and testing of PRICKLE1-related diseases. The Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR) are some of the resources available through PubMed.
Genetic testing plays a crucial role in the diagnosis and management of PRICKLE1-related diseases. PubMed provides information on the various genetic tests available for these conditions, along with their accuracy and reliability. This information is essential for healthcare professionals and individuals who may be at risk of developing PRICKLE1-related diseases to understand their genetic makeup.
Overall, PubMed is a valuable source of scientific articles and resources for researchers, healthcare professionals, and individuals seeking information on PRICKLE1-related diseases. The database provides access to a wealth of information that can contribute to the understanding, diagnosis, and management of these conditions.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic diseases. It provides information on variant genes and their associated conditions.
The PRICKLE1 gene is one of the genes listed in the OMIM catalog. It is associated with a range of conditions, including progressive myoclonus epilepsy, ataxia, and intellectual disability. Additional genes related to PRICKLE1 are also listed, such as REST/NRSF-interacting and other human genes.
The OMIM database provides a wealth of genetic information. It includes scientific articles, references, and clinical descriptions of diseases and genetic changes. It acts as a valuable resource for researchers, health professionals, and individuals interested in genetic conditions.
For individuals with suspected PRICKLE1-related conditions, genetic testing can be performed. This testing can help identify specific changes in the PRICKLE1 gene and provide additional information for diagnosis and management.
The OMIM catalog also provides links to other databases, such as PubMed. PubMed is a database of scientific articles and references, which can provide further information on PRICKLE1-related conditions and their genetic associations.
In conclusion, the OMIM catalog is a comprehensive resource for genes and genetic diseases. It includes information on PRICKLE1 and related genes, as well as associated conditions and genetic changes. Researchers and health professionals can utilize this catalog to enhance their understanding and diagnosis of PRICKLE1-related conditions.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working with the PRICKLE1 gene. These databases provide detailed information about the human gene and its related variants. They play a significant role in understanding how PRICKLE1 regulates various conditions and diseases.
Scientific publications, articles, and other relevant sources are cataloged in these databases to provide additional information to researchers and healthcare professionals. Different databases may have different names and focus on specific aspects of genes and genetic changes.
The following is a list of gene and variant databases related to PRICKLE1:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on PRICKLE1-related diseases and their associated genetic changes.
- PubMed: PubMed is a vast database of scientific publications and articles. Researchers can find a wealth of information on PRICKLE1-related research and studies on epilepsy, ataxia, and progressive myoclonus.
- Genetic Testing Registry (GTR): GTR provides a central location for information on genetic tests and their availability. Healthcare professionals can gather information on PRICKLE1-related genetic testing from this database.
- GENET: GENET is a gene variant database that catalogs genetic changes associated with various diseases, including PRICKLE1-related conditions.
- RESTNRSF-Interacting Gene (RING) Database: RING database focuses on genes that interact with RESTNRSF, including PRICKLE1.
These databases serve as valuable resources for researchers, geneticists, and healthcare professionals by providing up-to-date information on PRICKLE1-related genes, variants, and related conditions. They aid in understanding the genetic basis of diseases and assist in developing testing methods and treatments.
For references and further information, researchers and healthcare professionals can consult articles and resources available on these gene and variant databases.
References
- Genes listed on OMIM:
- PRICKLE1
- Databases referenced:
- OMIM
- PubMed
- Additional information on PRICKLE1 gene:
- Epilepsy:
- PRICKLE1-related epilepsy
- Ataxia:
- Progressive myoclonus ataxia with PRICKLE1 mutation
- Developing tests:
- RestNRSF-interacting variant changes in PRICKLE1 gene
- Scientific articles related to PRICKLE1 gene:
- Genetics Home Reference
- Additional diseases associated with PRICKLE1 gene:
- Myoclonus
| Gene | Tests |
|---|---|
| PRICKLE1 | PRICKLE1-related epilepsy testing |
For more information, please refer to the resources below:
- OMIM
- PubMed
- Genetics Home Reference
Please note that the information in this catalog is subject to change and may not be up to date. It is recommended to consult with healthcare professionals and genetic testing laboratories for the most accurate and current information regarding PRICKLE1 gene and related diseases.