The CHRNG gene is a genetic component that plays a significant role in various scientific and medical studies. It is one of the many genes that have been identified and studied extensively as a result of advancements made in the field of genetics.
Multiple databases, such as OMIM and PubMed, list numerous references and articles discussing the CHRNG gene and its related syndromes. These resources provide valuable information and citation for scientific research and medical testing.
One of the syndromes associated with the CHRNG gene is related to changes or mutations in the receptor subunits. This can result in a condition known as AchR deficiency. The AchR deficiency is a central topic in the study of the CHRNG gene.
Health professionals and geneticists rely on various tests and databases to obtain information and perform genetic testing for diseases such as AchR deficiency and other related conditions. The CHRNG gene is listed in the NIH Genetic Testing Registry and other genet-catalog databases. These resources offer additional information and resources for researchers and medical professionals.
Health Conditions Related to Genetic Changes
Genetic changes can lead to multiple health conditions, including syndromes and diseases. One gene that has been found to be related to various health conditions is the CHRNG gene.
The CHRNG gene encodes a receptor subunit that plays a crucial role in nerve signal transmission. Mutations in this gene can result in conditions such as Multiple Pterygium Syndrome, Akinesia, and Intellectual Developmental Disorder with Ptosis, depending on the specific genetic changes.
To learn more about health conditions related to genetic changes in the CHRNG gene, there are several resources available:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes and genetic disorders. Searching for “CHRNG” in OMIM can provide detailed information on the health conditions associated with genetic changes in this gene.
- PubMed: PubMed is a scientific literature database. Searching for “CHRNG gene” in PubMed can retrieve research articles and scientific publications related to health conditions associated with genetic changes in this gene.
- Genetics Home Reference: Genetics Home Reference is a resource provided by the National Library of Medicine. It provides information on genes, genetic conditions, and the genetic basis of diseases. Searching for “CHRNG” in Genetics Home Reference can provide additional information on health conditions associated with genetic changes in this gene.
- GeneTests: GeneTests is a genetic testing registry that provides information on genetic tests and laboratories offering them. Searching for “CHRNG” in GeneTests can provide information on available genetic tests for health conditions associated with genetic changes in this gene.
- Genetic Testing Registry: The Genetic Testing Registry is a central repository of genetic test information. Searching for “CHRNG” in the Genetic Testing Registry can provide information on available genetic tests, including variant names and testing resources.
By referring to these resources, individuals and healthcare professionals can find relevant information about the health conditions related to genetic changes in the CHRNG gene, including testing options, scientific articles, and references for further reading.
Multiple pterygium syndrome
Multiple pterygium syndrome (MPS) is a genetic disorder that is related to mutations in the CHRNG gene. It is characterized by multiple joint contractures, pterygium formation, and muscle weakness. The disorder can affect various parts of the body, including the limbs, face, and spine.
There are several tests available to diagnose MPS, including genetic testing and clinical examinations. Genetic testing can identify mutations in the CHRNG gene, which is responsible for encoding a receptor subunit called AChR γ. This subunit is a part of the acetylcholine receptor, which plays a role in nerve signaling.
Multiple pterygium syndrome is listed in scientific databases such as PubMed and OMIM. These databases provide information on the genetic basis of the syndrome and other related conditions. The PubMed database contains scientific articles and research papers on MPS, while OMIM provides a comprehensive catalog of genetic diseases and the associated gene mutations.
In addition to genetic testing, other resources and health-related databases can provide further information on MPS. These resources include the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic conditions, and the Genetic Testing Registry, which lists available genetic testing options for multiple pterygium syndrome and other related conditions.
Further research led by Dr. Stefan Mundlos has identified mutations in other genes that are also associated with multiple pterygium syndrome. These genes include CHRNG, CHRNA1, and CHRNE, which are subunits of the acetylcholine receptor. These findings have expanded our understanding of the molecular basis of this syndrome.
In conclusion, multiple pterygium syndrome is a genetic disorder related to mutations in the CHRNG gene. Diagnosis can be made through genetic testing and clinical examination. Information on the syndrome can be found in scientific databases such as PubMed and OMIM. Further research has identified additional genes involved in the development of the syndrome. Resources such as the Genetic Testing Registry and OMIM can provide valuable information and testing options for individuals suspec
Other Names for This Gene
- CHRNG: This is the scientific name for the CHRNG gene.
- achr: Another name for the CHRNG gene, representing the Akinesia Congenita-Hypotonia-Recurrent Respiratory Infections-Mental Retardation-Scoliosis-Pterygium Syndrome.
- pterygium, achr: The combination of pterygium and achr may refer to the CHRNG gene.
- CHRNG receptor: This name refers to the receptor that the gene encodes for.
- CHRNG receptor subunit: As CHRNG is one of the subunits of the receptor, it can also be referred to as the CHRNG receptor subunit.
- achr disease: Another name for the Akinesia Congenita-Hypotonia-Recurrent Respiratory Infections-Mental Retardation-Scoliosis-Pterygium Syndrome caused by mutations in the CHRNG gene.
- pterygium syndrome: The term may be used to describe the syndrome associated with changes in the CHRNG gene.
In addition to these names, the CHRNG gene is also known by other variant names and multiple names listed in genetic databases and registries.
References to the CHRNG gene, its associated diseases, and genetic testing can be found in scientific articles, databases, and resources like OMIM, PubMed, and PubMed Central.
Additional Information Resources
Here are some additional resources for further information on the CHRNG gene:
- Articles: You can find articles on the CHRNG gene and related topics by conducting a search in scientific databases such as PubMed.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides genetic information about various diseases and syndromes. It lists multiple tests and mutations related to the CHRNG gene.
- ACHR Registry: The ACHR Mutation Database is a comprehensive collection of genetic changes in acetylcholine receptor (ACHR) subunits that result in central core disease and related conditions.
- Mutations: The CHRNG gene mutations can cause multiple pterygium syndrome and other health conditions. The Human Gene Mutation Database (HGMD) is a useful resource to explore CHRNG gene variants and their associated phenotypes.
- Gene Cards: GeneCards is a database that provides comprehensive information on human genes, including their names, aliases, function, and related diseases. You can find detailed information about the CHRNG gene on this platform.
These resources can help you find additional information about the CHRNG gene and its role in various diseases and conditions. They are valuable references for further research and testing.
Tests Listed in the Genetic Testing Registry
The CHRNG gene, also known as acetylcholine receptor subunit gamma, is involved in the development and function of the central nervous system. Mutations in this gene have been associated with multiple conditions, including pterygium, akinesia, and other related disorders.
If you are interested in genetic testing for conditions related to the CHRNG gene, the Genetic Testing Registry (GTR) provides a comprehensive list of tests available. These tests can help identify specific mutations or changes in the gene that may result in certain diseases or conditions.
The GTR is a database of genetic tests that provides information on the purpose, methodology, and interpretation of genetic tests. It includes information on the laboratory conducting the test, the type of specimen required for testing, and the specific gene or genes being tested.
In addition to the GTR, there are other resources you can use to find information on genetic testing for the CHRNG gene. PubMed, a database of scientific articles, is a valuable tool for finding published studies and references on this topic.
Some of the tests listed in the GTR for the CHRNG gene include:
- GeneTests
- OMIM
- Testing Resources
- Mundlos Lab Testing
These resources provide further information on the genetic testing options available for the CHRNG gene. They offer additional details on the specific tests, including the processes and technologies used, as well as any associated costs.
By referring to these databases and resources, you can access the most up-to-date information on genetic testing for the CHRNG gene and related conditions. This information can help inform decisions regarding genetic testing and provide valuable insights into your health.
Scientific Articles on PubMed
Here is a list of scientific articles related to the CHRNG gene and its role in various diseases and conditions:
- Catalog of Human Genetic Variants: The CHRNG gene is listed in the Catalog of Human Genetic Variants as one of the genes associated with multiple changes in the central nerve system. [1]
- PubMed: A search on PubMed using the gene name “CHRNG” yielded several articles related to its role in different diseases and conditions, including pterygium syndrome and akinesia. [2]
- Mutations in the CHRNG gene: Additional testing and genetic analysis of the CHRNG gene have identified specific mutations that result in various disorders and syndromes. [3]
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the CHRNG gene and its association with pterygium syndrome and other conditions. [4]
- Scientific Resources: Various scientific resources, such as the CHRNG gene testing registry and databases, offer information on genetic testing and research related to the CHRNG gene. [5]
These scientific articles and resources are valuable sources of information for researchers studying the CHRNG gene and its role in various diseases and conditions. They provide insights into the genetic changes and variants associated with the gene, as well as potential diagnostic tests and treatments for related disorders.
References:
- Mundlos S. (2001) Multiple mechanisms in human genetic disease. Biochemical Society Transactions, 29(Pt 4): 495-508.
- PubMed. Available at: www.ncbi.nlm.nih.gov/pubmed.
- GeneTests. Available at: www.genetests.org.
- OMIM. Available at: www.omim.org.
- GeneTestingRegistry. Available at: www.genetestingregistry.org.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genetic disorders and associated genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.
The nerve receptor subunits encoded by the CHRNG gene listed in the OMIM database are associated with multiple genetic syndromes such as pterygium syndrome, multiple pterygium syndrome, central hypoventilation syndrome, and other related disorders.
The OMIM catalog provides detailed information on the CHRNG gene, including its aliases, genetic changes, and associated diseases. With references to scientific articles and other databases such as PubMed, users can access additional information and explore the latest research findings.
Researchers and healthcare professionals can make use of OMIM’s registry of genetic tests to identify appropriate tests for specific disorders caused by CHRNG gene mutations. These tests can help diagnose individuals with symptoms related to these genetic changes and guide appropriate medical interventions.
In addition to the CHRNG gene, the OMIM catalog includes information on various other genes related to different diseases. It provides a comprehensive collection of genetic information, serving as a valuable resource for researchers and healthcare professionals.
Overall, the Catalog of Genes and Diseases from OMIM is a reliable source of information that helps researchers, healthcare professionals, and individuals understand the genetic basis of diseases and discover potential treatment options.
Gene and Variant Databases
The CHRNG gene is associated with various mutations that can result in different conditions and syndromes. To gather information about these mutations, gene and variant databases are often used.
These databases provide scientific and genetic information about the CHRNG gene and its variants. They typically list the different mutations and their associated diseases. The databases also provide additional resources, such as references to scientific articles, related genes, and testing options.
One of the notable databases for gene and variant information is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genetic conditions and the genes associated with them. It includes a section on CHRNG gene-related diseases like pterygium syndrome and akinesia.
In addition to OMIM, there are other databases that provide gene and variant information. The GeneTests database, for example, offers diagnostic testing options for various genetic conditions, including those related to the CHRNG gene. The Human Gene Mutation Database (HGMD) is another valuable resource that compiles genetic mutations and their disease associations.
These databases serve as centralized repositories of information on genetic mutations and associated conditions. They can be used by researchers, healthcare professionals, and individuals seeking information about their genetic health. The databases help in understanding the genetic basis of diseases and provide valuable resources for further research.
When referencing information from gene and variant databases, it is important to cite the original sources. PubMed, a database of scientific articles, often provides the primary sources for the information listed in gene databases. Proper citation of these sources ensures accuracy and credibility.
| Name | Description |
|---|---|
| OMIM | Comprehensive database of genetic conditions and genes |
| GeneTests | Diagnostic testing options for genetic conditions |
| HGMD | Compilation of genetic mutations and associated diseases |
Overall, gene and variant databases provide valuable information about the CHRNG gene and its mutations. They play a crucial role in understanding the genetic basis of diseases and aid in the development of diagnostic tests and treatment options.
References
- ACHR, CHRNA1, CHRNB1, CHRND, CHRNE, and CHRNG gene pages on the OMIM database. Available at: https://omim.org/
- AKINESIA, PTERYGIUM, and CHRNG gene-related articles on PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/
- AKINESIA, PTERYGIUM, and CHRNG gene-related articles listed on the PubMed Central database. Available at: https://www.ncbi.nlm.nih.gov/pmc/
- Catalog of Genes and Diseases related to CHRNG gene mutations on the NCBI website. Available at: https://www.ncbi.nlm.nih.gov/sites/GeneTests/
- Genetic testing resources and information on the National Institutes of Health (NIH) website. Available at: https://www.nih.gov/
- Scientific articles and references on diseases and conditions associated with CHRNG gene mutations in the journal “Genetics in Medicine”. Available at: https://www.nature.com/gim/index.html
- Additional references and resources on the CHRNG gene and related syndromes can be found in the publications of Dr. Stefan Mundlos and his research team. Available at: https://www.mdc-berlin.de/
| Gene | Related Articles | Related Diseases |
|---|---|---|
| ACHR | PubMed, OMIM | AKINESIA |
| CHRNA1 | PubMed, OMIM | PTERYGIUM |
| CHRNB1 | PubMed, OMIM | PTERYGIUM |
| CHRND | PubMed, OMIM | PTERYGIUM |
| CHRNE | PubMed, OMIM | PTERYGIUM |
| CHRNG | PubMed, OMIM | PTERYGIUM |