The EVC2 gene is a genetic defect that is related to the Ellis-Van Creveld syndrome. This article will provide information on the EVC2 gene and its related conditions, testing methods, and genetic changes. It will also reference additional resources and databases where more information can be found.
The EVC2 gene is one of the genes listed in the OMIM catalog that is associated with Ellis-Van Creveld syndrome. This condition is characterized by signs such as acrofacial dysostosis, changes in dental and nail growth, and short stature. The EVC2 gene plays a role in signaling pathways that are involved in the growth and development of cells and tissues, particularly in the embryo.
To date, several genetic changes in the EVC2 gene have been identified in individuals with Ellis-Van Creveld syndrome. These changes can lead to defects in the production or function of the EVC2 protein, which in turn affects the signaling pathways involved in growth and development. Testing methods such as DNA sequencing and genetic testing can be used to identify these changes in individuals suspected of having Ellis-Van Creveld syndrome.
Additional information on the EVC2 gene and related conditions can be found in scientific articles and databases such as PubMed. These resources provide a wealth of information on the function of the EVC2 gene, its role in Ellis-Van Creveld syndrome, and potential treatment options. The EVC2 gene registry is also a valuable resource for individuals and families affected by Ellis-Van Creveld syndrome, providing support and information on the latest research and resources available.
Health Conditions Related to Genetic Changes
Genetic changes in the EVC2 gene have been found to be related to several health conditions. These changes can lead to variations in the growth and development of various parts of the body, resulting in different syndromes and diseases.
One such syndrome is the Ellis-van Creveld variant, also known as acrofacial dysostosis. This condition is characterized by abnormalities in teeth, nails, and the growth of bones, among other signs. The EVC2 gene plays a role in the signaling pathway that regulates cell growth and development, and changes in this gene can disrupt this process.
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In addition to the Ellis-van Creveld variant, the EVC2 gene is also associated with other conditions such as Weyers dysostosis and Thompson-Baraitser syndrome. These conditions have their own set of symptoms and additional genetic changes that contribute to their development.
To gather information on these genetic changes and related health conditions, resources such as OMIM and PubMed can be used. These databases catalog scientific articles, genetic tests, and information on various genes and conditions. These resources can provide valuable references and information needed for testing, diagnosis, and treatment.
Testing for genetic changes in the EVC2 gene and other associated genes can help identify individuals at risk for these health conditions. Early detection can lead to timely interventions and appropriate medical care.
Overall, genetic changes in the EVC2 gene and other associated genes can have significant effects on health. By understanding the role of these genes and their impact on cell signaling and development, healthcare professionals can better identify and manage related conditions.
Ellis-van Creveld syndrome
The Ellis-van Creveld syndrome (EVC) is a rare genetic condition characterized by a variety of physical abnormalities. It is caused by changes in the EVC2 gene and is inherited in an autosomal recessive manner. The syndrome is also known by other names, including acrofacial dysostosis, chondroectodermal dysplasia, and Weyers-Thompson syndrome.
Individuals with Ellis-van Creveld syndrome may present with a range of signs and symptoms, including short stature, disproportionate limb shortening, polydactyly (extra fingers or toes), and dental abnormalities such as small or missing teeth. The condition also affects the growth and development of the heart, resulting in congenital heart defects in some cases.
Genetic testing is available to confirm a diagnosis of Ellis-van Creveld syndrome. Testing can detect changes in the EVC2 gene that are associated with the condition. Additional information on genetic testing and related genetic changes can be found in scientific articles, databases, and other sources.
Research has shown that the EVC2 gene is involved in the development of various cell types and tissues in the embryo, including bone, teeth, and nails. The EVC2 gene is part of a signaling pathway that is important for normal embryonic development. Changes in this gene disrupt the signaling pathway and lead to the signs and symptoms of Ellis-van Creveld syndrome.
Ellis-van Creveld syndrome is considered a rare condition, with an estimated prevalence of approximately 1 in 60,000 to 1 in 200,000 individuals. It is most commonly found in certain populations, including the Amish community in the United States and certain communities in Central and South America.
For additional information on Ellis-van Creveld syndrome, including specific signs and symptoms, related conditions, and references to scientific articles, databases, and other resources, you can visit the Online Mendelian Inheritance in Man (OMIM) website or search the PubMed database.
| Condition | Related gene |
|---|---|
| Ellis-van Creveld syndrome | EVC2 |
| Weyers dysplasia | EVC2 |
| Thompson syndrome | EVC2 |
Weyers acrofacial dysostosis
Weyers acrofacial dysostosis is a rare genetic condition characterized by various skeletal, dental, and other physical abnormalities. It is caused by changes in the EVC2 gene. The EVC2 gene provides instructions for making a protein that is involved in signaling pathways important for cell growth and development.
Signs and symptoms of Weyers acrofacial dysostosis can vary widely from person to person. Common features include short stature, short limbs, extra fingers or toes, and abnormalities of the nails and teeth. Other possible findings include changes in facial features and skeletal defects. Some individuals may also have hearing loss or intellectual disability.
Diagnosis of Weyers acrofacial dysostosis is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying changes in the EVC2 gene. Additional tests, such as imaging studies, may be done to evaluate the extent of skeletal abnormalities.
There are currently no specific treatments for Weyers acrofacial dysostosis. Management focuses on addressing the individual’s specific symptoms and providing support and resources to affected individuals and their families. Regular medical follow-up and monitoring of growth and development are important.
For more information about Weyers acrofacial dysostosis, you can visit the following resources:
- The OMIM database, which provides detailed scientific information about genetic conditions, including a summary of the condition and related genes (https://www.omim.org/).
- The PubMed database, which contains scientific articles and research papers on Weyers acrofacial dysostosis and related conditions (https://pubmed.ncbi.nlm.nih.gov/).
- The European Skeletal Dysplasia Network database, which catalogs information about skeletal dysplasias and related conditions (http://www.clininfo.fr/esdn/).
- The Ellis-van Creveld syndrome registry, a collection of information and resources for individuals and families affected by Ellis-van Creveld syndrome (https://www.evc-adviesgroep.nl/).
References and related articles on Weyers acrofacial dysostosis can also be found in scientific journals and through online databases such as PubMed.
Other Names for This Gene
The EVC2 gene is also known by other names, including:
- Ellis-van Creveld syndrome 2 gene
- EvC2 gene
- Acrofacial dysostosis, Weyers-type gene
These names may be used interchangeably in scientific literature and databases to refer to the same gene. The EVC2 gene is associated with the Ellis-van Creveld syndrome, a rare genetic disorder characterized by defects in bone and teeth development, short stature, and other physical signs. Mutations or changes in the EVC2 gene are typically found in individuals with this syndrome.
Additional information on the EVC2 gene and its role in Ellis-van Creveld syndrome can be found in various genetic catalogs, such as OMIM (Online Mendelian Inheritance in Man) or PubMed. These resources provide references to scientific articles, genetic testing information, and other related resources.
Additional Information Resources
Here are some additional resources for information on the EVC2 gene:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and related genes. You can find information on the EVC2 gene, as well as associated diseases such as Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis, in the OMIM database.
- PubMed: PubMed is a database of scientific articles. You can search for articles related to the EVC2 gene, genetic testing, and associated conditions.
- Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests and laboratories that offer testing for specific genes or conditions. You can find information on genetic tests for the EVC2 gene and related conditions in this registry.
These resources can provide valuable information on the EVC2 gene, its role in cell growth and signaling, and the associated conditions. They can also provide references to scientific articles and other sources of information.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in identifying and understanding various genetic conditions. The Genetic Testing Registry (GTR) is a comprehensive database that provides information about genetic tests related to specific genes, including the EVC2 gene.
The EVC2 gene, also known as Ellis-van Creveld syndrome 2 gene, is associated with a rare genetic disorder called Ellis-van Creveld syndrome. This condition affects various parts of the body, including the teeth, nails, and bones. It is characterized by specific physical signs, such as short stature, poorly formed teeth, and extra fingers or toes.
In the Genetic Testing Registry, you can find information about various genetic tests related to the EVC2 gene. These tests help identify changes in this gene that may be associated with Ellis-van Creveld syndrome or other related conditions. The registry provides detailed information about the testing procedures and laboratories conducting these tests.
Each test listed in the registry includes additional information such as the test’s purpose, the specific genes analyzed, associated diseases and conditions, and references to scientific articles and databases. It is a valuable resource for both healthcare professionals and individuals seeking information about genetic testing for the EVC2 gene.
Furthermore, the Genetic Testing Registry also provides information about other genes and genetic variants associated with Ellis-van Creveld syndrome, as well as similar conditions like Weyers acrofacial dysostosis. These resources help researchers and healthcare providers better understand the underlying genetic causes and signaling pathways related to these conditions.
In conclusion, the Genetic Testing Registry is an essential tool for seeking information about genetic testing for the EVC2 gene and related conditions. It provides comprehensive details about the tests, associated genes, and references to scientific articles and databases. This information can aid in the diagnosis, understanding, and management of various genetic disorders, including Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.
Scientific Articles on PubMed
In the context of the EVC2 gene, various scientific articles can be found on PubMed. These articles explore the role of the EVC2 gene in the syndrome known as Weyers acrofacial dysostosis. Through the use of registries and databases, researchers have identified genetic changes in the EVC2 gene that are associated with this condition.
Studies have focused on the use of genetic testing, including embryo and cell testing, to further understand the EVC2 gene and its implications. One such study by Tompson et al. investigated the genetic changes in the EVC2 gene and reported their findings in a scientific article.
Searching PubMed for articles related to the EVC2 gene yields additional information on its role in health and the signs and symptoms associated with genetic variants. These articles provide valuable insights into the signaling pathways and other genes involved in Weyers acrofacial dysostosis.
Some articles also discuss related conditions such as Ellis-van Creveld syndrome and provide references to other scientific resources and databases. The EVC2 gene is often listed alongside other genes implicated in these conditions.
Furthermore, studies have examined the clinical features of Weyers acrofacial dysostosis, including defects in growth, teeth, and nails. Articles in PubMed provide additional information on these conditions, their genetic changes, and related diseases.
In conclusion, PubMed is a valuable resource for accessing scientific articles related to the EVC2 gene and its role in Weyers acrofacial dysostosis. These articles provide insights into the genetic changes, associated conditions, and clinical features of this syndrome.
References
- Tompson SW, Ruiz-Perez VL, Blair HJ, et al. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007;120(5):663-670. doi:10.1007/s00439-006-0257-6
- “EVC2 gene.” Genetics Home Reference. U.S. National Library of Medicine, n.d. Web. 19 Oct. 2021.
- “EVC2 gene.” Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, n.d. Web. 19 Oct. 2021.
Catalog of Genes and Diseases from OMIM
The EVC2 gene, also known as the Ellis-Van Creveld syndrome 2 gene, is associated with a rare genetic condition called Ellis-Van Creveld syndrome. This syndrome is characterized by defects in the development of bones and teeth, dwarfism, and dysostosis. Patients with Ellis-Van Creveld syndrome may also present with other signs and related conditions.
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic disorders. It provides information on various genetic conditions, including Ellis-Van Creveld syndrome. OMIM contains a wealth of scientific articles, references, and resources related to the EVC2 gene and its associated disorders.
In the OMIM database, you can find information on the EVC2 gene, its function, and the specific changes or variants that are associated with Ellis-Van Creveld syndrome. The database also lists other related diseases and genes that are linked to EVC2 or share common features with Ellis-Van Creveld syndrome.
OMIM provides references to scientific articles and publications from PubMed, a widely used database for biomedical research. These articles offer additional information on the EVC2 gene, its role in cell signaling, and the molecular pathways affected by changes in this gene.
For those interested in testing for Ellis-Van Creveld syndrome or other related conditions, the OMIM database can be a valuable resource. It provides links to genetic testing resources, registries, and databases where individuals can find more information on how to get tested for this genetic condition.
In conclusion, the OMIM database offers a comprehensive catalog of genes and diseases, including information on the EVC2 gene and Ellis-Van Creveld syndrome. It provides a wealth of scientific articles, references, and resources for researchers and individuals interested in studying or understanding this genetic condition.
Gene and Variant Databases
In the field of genetics, gene and variant databases play a crucial role in providing information about genetic conditions and the associated genes and variants. These databases serve as valuable resources for both researchers and healthcare professionals.
One widely used gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the genes and their associated diseases or conditions, including the EVC2 gene and related disorders such as Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis.
The OMIM database also includes information on the genetic changes or variants that are associated with each condition. This information can be useful for understanding the underlying molecular mechanisms and for genetic testing purposes.
Another important gene and variant database is PubMed. PubMed is a scientific literature database that provides access to a vast collection of research articles. Users can search PubMed to find relevant articles on genes, variants, and genetic conditions.
In addition to OMIM and PubMed, there are also other gene and variant databases available, each with their own specific focus and features. These databases may provide additional resources, such as information on gene expression patterns, signaling pathways, or functional studies of genes and variants.
For researchers and healthcare professionals working with the EVC2 gene and related conditions, these gene and variant databases are valuable tools for understanding the genetic basis of these disorders and for accessing up-to-date information on genes, variants, and associated diseases.
Overall, gene and variant databases are essential resources for the field of genetics, providing a wealth of information on genes, variants, and genetic conditions. They serve as a valuable reference for scientific research, clinical diagnostics, and genetic counseling.
References
- Gene: EVC2 gene
- Information: Cell and genetic syndrome related to the EVC2 gene can be found in the following resources:
- OMIM – Online Mendelian Inheritance in Man
- EVC2 gene catalog on PubMed
- Other articles on EVC2 gene on PubMed
- Acrofacial Dysostosis, Ellis-Van Creveld: This is a condition related to the EVC2 gene. Scientific information can be found on OMIM and PubMed
- EVC2 gene databases: Additional information and resources on the EVC2 gene can be found in various genetic databases
- Growth variant tests: Testing for genetic conditions related to the EVC2 gene
- Teeth and nails defects: Information on tooth and nail defects related to the EVC2 gene
- Weyers syndrome: A condition related to the EVC2 gene
- Tomphson-McMahon syndrome: A condition related to the EVC2 gene
- Signaling pathways and cell growth: Scientific information on the role of the EVC2 gene in signaling pathways and cell growth
- Scientific articles and registry: Additional scientific articles and registry information on the EVC2 gene