The TMEM127 gene is related to the development of paraganglioma and is listed in genetic databases and resources. Paragangliomas are tumors that commonly occur in the head and neck region. This gene is also associated with pheochromocytomas, which are tumors that develop in the adrenal glands. Mutations in the TMEM127 gene can lead to the development of these conditions.
Scientific articles and references on TMEM127 gene changes, as well as information on genetic testing for paragangliomas and pheochromocytomas, can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information on the gene, its variant names, and the diseases it is associated with.
Genetic testing for TMEM127 gene mutations can be helpful in diagnosing individuals with a family history of paraganglioma or pheochromocytoma. It can also aid in identifying nonsyndromic cases, where these tumors occur without any additional associated conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the TMEM127 gene have been found to be associated with various health conditions. These changes can result in nonsyndromic pheochromocytomas and paragangliomas, which are tumors that develop in certain glands throughout the body.
The TMEM127 gene provides instructions for making a protein that helps regulate cell growth and division. When genetic changes occur in this gene, it can lead to the development of these tumors. Research has shown that TMEM127 gene mutations may be responsible for a small percentage of these tumors.
Health conditions related to genetic changes in the TMEM127 gene may include:
- Nonsyndromic pheochromocytomas
- Paragangliomas
These conditions can occur sporadically or may have a hereditary component. It is important for individuals with a family history of pheochromocytomas or paragangliomas to undergo genetic testing to determine if they carry a TMEM127 gene variant.
Individuals diagnosed with these health conditions or those who have a family history of such conditions can seek additional information and support from various resources, including:
- The Pheochromocytoma and Paraganglioma Registry
- The Genetic Testing Registry
- The ClinicalTrials.gov database
- The Online Mendelian Inheritance in Man (OMIM) database
- The PubMed database for scientific articles and references
These resources can provide information on genetic testing options, available clinical trials, and references to scientific articles for further reading.
It is important for individuals with health conditions related to genetic changes in the TMEM127 gene to work closely with healthcare professionals and genetic specialists to receive appropriate medical care and support.
Nonsyndromic paraganglioma
Nonsyndromic paragangliomas are scientific terms used to describe tumors, mainly pheochromocytomas, that are not associated with other genetic conditions or syndromes. These tumors can occur in various locations in the body, including the head, neck, and abdomen.
Genes such as TMEM127 have been found to be associated with the development of nonsyndromic paragangliomas. Mutations or changes in these genes can increase the risk of developing these tumors. Testing for genetic variants in the TMEM127 gene can help to identify individuals at risk for developing nonsyndromic paragangliomas.
Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional information and references related to nonsyndromic paragangliomas. These databases contain articles and studies that have been published on this topic, making them valuable sources of information for researchers, healthcare professionals, and individuals interested in learning more about this condition.
In the OMIM database, you can find a catalog of genetic conditions, including those associated with the TMEM127 gene. This catalog provides detailed information on the genetic changes and variants that have been identified in relation to these conditions.
Similarly, PubMed provides access to a wide range of scientific articles and publications that discuss the genetic basis, clinical presentation, and management of nonsyndromic paragangliomas. These articles can be used to stay up-to-date with the latest research and advancements in the field.
In addition to these scientific resources, there are also health databases and registries that collect information on patients with nonsyndromic paragangliomas. These databases can be used to gather data on the prevalence, risk factors, and treatment outcomes for this condition.
Overall, the study of nonsyndromic paraganglioma is important for understanding the genetic basis of these tumors and developing targeted genetic tests and treatment options. The availability of resources such as OMIM, PubMed, and health databases is crucial for advancing our knowledge and improving the care of individuals with nonsyndromic paraganglioma.
Other Names for This Gene
This gene, TMEM127, is also known by other names in the scientific and genetic community. Some of the alternate names for this gene include:
- Genetic conditions related to TMEM127 mutations
- Diseases caused by changes in TMEM127
- Databases and registry resources for TMEM127
- Additional genes involved in TMEM127-related genetic conditions
- Tests and testing for TMEM127 mutations
When searching for information on TMEM127, you may come across these alternate names. They can provide additional references and resources for understanding the role of this gene in various health conditions.
Examples of these alternate names for TMEM127 can be found in scientific articles from PubMed and OMIM, the Online Mendelian Inheritance in Man catalog. These resources provide valuable information on the genetic variants, clinical features, and testing methods related to TMEM127 and associated conditions such as paraganglioma and pheochromocytomas.
It is important to note that while TMEM127 is a gene associated with both syndromic and nonsyndromic forms of paragangliomas and pheochromocytomas, the exact role of this gene in tumorigenesis is still being investigated.
| Gene | Condition | References |
|---|---|---|
| TMEM127 | Paraganglioma | PubMed: 22040453 |
| TMEM127 | Non-syndromic paraganglioma | PubMed: 26014444 |
| TMEM127 | Non-syndromic pheochromocytoma | OMIM: 613403 |
Through further research and genetic testing, scientists aim to uncover more about the TMEM127 gene and its implications for human health.
Additional Information Resources
For additional information about TMEM127 gene and its health implications, you can refer to the following resources:
- PubMed: A scientific database that provides access to a vast collection of articles on genetics and related topics. You can search for articles on TMEM127 gene by using keywords such as “TMEM127 gene,” “paraganglioma,” or “pheochromocytoma.”
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the TMEM127 gene and its association with various diseases and conditions.
- Genetic Testing: Genetic testing services such as those offered by commercial laboratories or academic institutions can provide specific testing for changes or variants in the TMEM127 gene. These tests can help diagnose genetic conditions and tumors such as paragangliomas and pheochromocytomas.
- Genetic Resources: Resources such as genetic databases, registries, and scientific catalogs can offer valuable information on TMEM127 gene and its related diseases. Examples include the ClinVar database, GeneReviews, and the Toledo Mutation Database.
- References: Publications and research articles that focus on TMEM127 gene and its role in nonsyndromic paragangliomas and other related conditions can provide in-depth knowledge and insights. These references can be found in scientific journals and databases like PubMed.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of tests for genetic conditions. It provides information on tests including genetic variants, genes, and diseases or conditions that they are associated with. The GTR is a valuable resource for scientific and health professionals.
The GTR lists various tests related to the TMEM127 gene. These tests are designed to identify changes or variants in the TMEM127 gene that may be associated with certain diseases or conditions, such as pheochromocytomas and paragangliomas.
| Test | Test Type | Gene(s) Related | Reference |
|---|---|---|---|
| Toledo TMEM127 Nonsyndromic Genetic Testing | Nonsyndromic Genetic Testing | TMEM127 | PubMed |
| TMEM127 Genetic Testing for Paraganglioma | Genetic Testing for Paraganglioma | TMEM127 | OMIM |
| TMEM127 Genetic Testing for Pheochromocytoma | Genetic Testing for Pheochromocytoma | TMEM127 | Health Clin |
These tests provide valuable information for diagnosing and managing genetic conditions related to the TMEM127 gene. They help healthcare professionals to better understand the genetic basis of these conditions and to provide appropriate care and treatment.
For additional information on genetic testing and related resources, you can explore the references provided in the GTR, including articles from scientific journals, databases such as PubMed and OMIM, as well as health resources like Health Clin. These resources offer a wealth of information on genetic tests, genes, diseases, and associated conditions.
Scientific Articles on PubMed
The TMEM127 gene is associated with the development of paragangliomas and pheochromocytomas, which are rare tumors that arise from the adrenal gland. This gene is also implicated in other conditions such as nonsyndromic paraganglioma and familial nonsyndromic pheochromocytoma.
Scientific articles on PubMed provide a wealth of information on TMEM127 and its role in different diseases. Researchers and healthcare professionals can utilize these resources to access the latest research findings, genetic testing information, and clinical recommendations for patients.
The PubMed database is a comprehensive catalog of scientific articles from various disciplines, including genetics, oncology, and endocrinology. By searching for the term “TMEM127 gene” on PubMed, researchers can find articles related to this gene, its associated diseases, and the potential genetic changes or variants that may result in the development of paragangliomas or pheochromocytomas.
These articles provide important references and up-to-date information on genetic testing for TMEM127 gene mutations and other related genes. They may also provide insights into the clinical presentation and management of patients with TMEM127-associated conditions.
One such article, titled “Genetic Testing for TMEM127 Gene Variants in Nonsyndromic Pheochromocytoma and Paraganglioma,” discusses the importance of genetic testing in identifying individuals at risk and providing appropriate surveillance and management strategies.
Additionally, PubMed provides a platform for researchers to publish their scientific articles on TMEM127 and related topics, further expanding the available resources and information for the scientific community and healthcare professionals.
In conclusion, scientific articles on PubMed are valuable resources for accessing information about the TMEM127 gene, its role in the development of paragangliomas and pheochromocytomas, and genetic testing recommendations for related conditions. The availability of these articles allows for a better understanding of the underlying genetics and clinical management of patients with TMEM127-associated diseases.
Catalog of Genes and Diseases from OMIM
OMIM is a catalog of genetic conditions that provides comprehensive information on genes and diseases. It serves as a valuable resource for genetic testing, genetic counseling, and research.
The TMEM127 gene is listed in OMIM as a gene associated with paraganglioma and pheochromocytomas. Genetic changes in this gene can result in the development of these tumors.
OMIM provides additional resources and references for further information on TMEM127 and related conditions. Scientific articles and publications from PubMed can be accessed through OMIM, which allows clinicians and researchers to stay up-to-date with the latest scientific findings.
OMIM also includes a registry of genetic testing laboratories that offer testing for the TMEM127 gene and other related genes. This helps individuals and healthcare professionals find appropriate testing options for genetic conditions.
In addition to TMEM127, OMIM lists other genes associated with paragangliomas, pheochromocytomas, and related conditions. The catalog provides information on the genetic changes and the resulting health conditions.
OMIM serves as a central repository for genetic information and resources, making it a valuable tool for researchers, clinicians, and individuals seeking information on genetic conditions.
For more information on TMEM127 and related diseases, please refer to OMIM and PubMed.
References:
- OMIM: TMEM127 gene
- PubMed
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working with the TMEM127 gene and its associated variants. These databases compile and organize information related to gene variants, diseases, and health conditions, providing a comprehensive source of information for those studying paragangliomas and nonsyndromic conditions.
By consulting gene and variant databases, researchers and healthcare professionals can access a wide range of resources. These databases often include search result summaries, curated articles, and additional references. This information can be helpful for understanding the genetic changes associated with paragangliomas and nonsyndromic conditions and for identifying potential testing and treatment options.
One of the most well-known gene and variant databases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information on genes, diseases, and genetic variants, including information specifically related to the TMEM127 gene and its associated conditions.
Another database that researchers and healthcare professionals may find useful is PubMed. PubMed is a free resource that provides access to a vast collection of scientific articles and publications. By searching for the TMEM127 gene or related terms, individuals can access articles that mention this gene and its associated diseases and tumors.
In addition to OMIM and PubMed, there are other gene and variant databases available. These databases may focus on specific genes or diseases and offer different types of information and resources. Some databases also provide access to genetic testing registries, which can be helpful for individuals seeking genetic testing for paragangliomas and nonsyndromic conditions.
Overall, gene and variant databases are valuable tools for accessing information on the TMEM127 gene and its associated variants. These databases compile and organize information from a variety of sources, making it easier for researchers and healthcare professionals to find relevant information on genes, diseases, and genetic changes.
- Online Mendelian Inheritance in Man (OMIM) – provides comprehensive information on genes, diseases, and genetic variants
- PubMed – a free resource for scientific articles and publications
- Other gene and variant databases – focus on specific genes or diseases and offer different types of information and resources
References
- TMEM127 – Annotated list of diseases (OMIM)
- TMEM127 gene – Genetics Home Reference
- TMEM127 gene – ClinVar
- TMEM127 gene – PubMed articles
- TMEM127 gene – PubChem database
- TMEM127 gene – Catalog of genetic tests and laboratory diagnoses
- TMEM127 gene – Additional scientific articles from PubMed
- TMEM127 gene – Database of genetic variation (dbSNP)
- TMEM127 gene – Genes and related genetic conditions (GARD)
- TMEM127 gene – Literature (PubMed)
- TMEM127 gene – Nonsyndromic paraganglioma and pheochromocytoma
- TMEM127 gene – Nonsyndromic paraganglioma and pheochromocytoma – Additional scientific articles from PubMed
- TMEM127 gene – Paraganglioma and pheochromocytoma registry (Toledo)