EVC gene

The EVC gene is one of the genes related to Ellis-Van Creveld syndrome, also known as chondroectodermal dysplasia. This condition is characterized by various signs and defects, including dwarfism, abnormal teeth, and polydactyly. The EVC gene is responsible for encoding a protein that plays a crucial role in the signaling pathway related to skeletal and tooth development.

Information about the EVC gene can be found in scientific databases such as OMIM and PubMed. These resources provide articles and references on genetic tests, changes in the gene, and related diseases. By studying the EVC gene and its variants, researchers aim to gain a better understanding of the molecular mechanisms underlying Ellis-Van Creveld syndrome and other related conditions.

Studies have shown that mutations in the EVC gene can lead to dysostosis, a condition characterized by abnormal bone development and growth. The gene has also been found to be involved in the development of acrofacial dysostosis, a related condition that affects the growth of the face and limbs.

In addition to the EVC gene, there are other genes that are related to Ellis-Van Creveld syndrome and similar conditions. These genes form a complex signaling pathway that regulates various aspects of embryonic development. Some of the genes related to Ellis-Van Creveld syndrome include EVC2, Weyers, and Thompson.

Further research on the EVC gene and its related genes may lead to the development of new diagnostic tests and potential treatments for Ellis-Van Creveld syndrome and other related conditions. By understanding the molecular basis of these diseases, scientists hope to find targeted therapies that can alleviate the symptoms and improve the quality of life for affected individuals.

Health Conditions Related to Genetic Changes

Health conditions can arise due to genetic changes or defects in the EVC gene. These genetic changes can lead to various syndromes and disorders. Here is some information on the health conditions related to genetic changes in the EVC gene.

  • Ellis-van Creveld syndrome: This condition is characterized by a variety of signs and symptoms, including short stature, abnormalities in the teeth and nails, and various skeletal defects.
  • Acrofacial dysostosis, Weyers type: This is a rare genetic disorder that affects the development of the face and limbs. It is caused by changes in the EVC2 gene.

These conditions are related to genetic changes in the EVC gene pathway. They can be diagnosed through genetic testing and additional clinical examinations. Scientific articles, databases, and genetic catalogs such as OMIM and PubMed provide further information and references on these conditions.

Condition Name Gene(s) Involved
Ellis-van Creveld syndrome EVC, EVC2
Acrofacial dysostosis, Weyers type EVC2

Understanding the genetic changes in these genes can help in the diagnosis and management of these health conditions. It is important to consult with healthcare professionals and genetic specialists for accurate testing and personalized care.

Ellis-van Creveld syndrome

Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia or mesoectodermal dysplasia, is a rare genetic condition. It is characterized by the presence of various physical abnormalities, including skeletal and dental defects.

This syndrome is classified as a form of dysostosis, which refers to abnormal bone development. It is caused by mutations in the EVC or EVC2 genes, both of which play a role in embryonic development.

Patients with Ellis-van Creveld syndrome often exhibit acrofacial dysostosis, which involves abnormal development of the bones in the hands, feet, and face. The syndrome is also associated with heart defects, cognitive impairments, and other health issues.

The EVC and EVC2 genes are involved in the Wnt signaling pathway, which is essential for proper growth and development. Mutations in these genes disrupt this pathway, leading to the characteristic physical features and organ abnormalities seen in Ellis-van Creveld syndrome.

To diagnose this condition, genetic testing can be performed to detect mutations in the EVC or EVC2 genes. This testing can be done using various resources, such as databases like OMIM or the Genetic Testing Registry. Additionally, clinical signs and symptoms can be used to guide testing.

For additional information on Ellis-van Creveld syndrome, scientific articles and references can be found on PubMed. The Catalog of Human Genes and Diseases and the Online Mendelian Inheritance in Man (OMIM) database are also valuable resources for information on this condition.

Early intervention and proper management of the associated health issues are important for individuals with Ellis-van Creveld syndrome. Regular check-ups, dental care, and monitoring of heart function are often recommended.

It is worth noting that although Ellis-van Creveld syndrome is a genetic condition, it is typically not inherited in a predictable pattern. The syndrome usually occurs spontaneously as a result of new genetic changes in the embryo. However, in rare cases, it can be inherited in an autosomal recessive manner.

If you suspect that you or someone you know may have Ellis-van Creveld syndrome, it is important to consult with a healthcare professional for proper diagnosis, testing, and management.

Weyers acrofacial dysostosis

Weyers acrofacial dysostosis is a rare genetic condition that affects the development of bones and tissues in the face and limbs. It is also known as Ellis-Van Creveld syndrome, which is one of the names used to describe this condition.

People with Weyers acrofacial dysostosis may have a variety of signs and symptoms, including short limbs, extra fingers or toes, abnormal nails, and dental problems. These features can vary from person to person, and each individual may be affected differently.

The genetic cause of Weyers acrofacial dysostosis is changes in the EVC gene. This gene provides instructions for making a protein that is involved in a signaling pathway important for embryonic development and growth.

See Also:  SLC45A2 gene

There are several resources available for more information on Weyers acrofacial dysostosis. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the condition, including the signs and symptoms, the genetic changes associated with it, and other related resources.

Scientific articles on Weyers acrofacial dysostosis can be found in the PubMed database, which is a resource for scientific publications. These articles may provide additional information on the condition, including research studies and case reports.

Genetic testing can be done to confirm a diagnosis of Weyers acrofacial dysostosis. This testing looks for changes or variants in the EVC gene that are associated with the condition.

If you or someone you know has been diagnosed with Weyers acrofacial dysostosis, it may be helpful to seek out support and connect with others who have the condition. The Weyers Acrofacial Dysostosis Registry is a resource that provides information and support to individuals and families affected by the condition.

Additional Resources:

  • OMIM database: (insert link)
  • PubMed articles on Weyers acrofacial dysostosis: (insert link)
  • Weyers Acrofacial Dysostosis Registry: (insert link)

Other Names for This Gene

The EVC gene is also known by other names:

  • Acrofacial dysostosis, Cervical vertebral fusion variant
  • ACR
  • EvC syndrome
  • Ellis-van Creveld syndrome
  • EvC

These names are used to refer to the same gene, each providing additional information about related diseases, conditions, and signs.

Related Syndromes Genes Other Names

Ellis-van Creveld syndrome

 EVC EvC syndrome

Weyers acrofacial dysostosis

 EVC2 EvC2

These related syndromes have changes or defects in the EVC gene or the EVC2 gene, which is involved in the growth and development of various body structures.

For more information about the EVC gene and related conditions, you may refer to the following databases and resources:

These resources provide a wealth of information on the EVC gene, related conditions, and genetic testing options.

Additional Information Resources

For additional information on the EVC gene and related conditions, the following resources can be helpful:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the EVC gene, Ellis-Van Creveld syndrome, and other related genetic conditions.
  • PubMed: PubMed is a database of scientific articles that contains a wealth of information on the EVC gene and associated disorders. Searching for keywords such as “EVC gene” or “Ellis-Van Creveld syndrome” in PubMed can lead to relevant articles and research papers.
  • EVC Registry: The EVC Registry is a specialized database that collects information on individuals with Ellis-Van Creveld syndrome and related conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals and families affected by these conditions.
  • Other Genetic Testing Databases: Various genetic testing databases, such as ClinVar and GeneReviews, provide information on genetic tests available for EVC gene variants and related disorders.
  • Scientific Articles and References: Numerous scientific articles and references have been published on the EVC gene, Ellis-Van Creveld syndrome, and related topics. These articles can provide in-depth information on the genetic changes, phenotypic characteristics, and molecular pathways associated with these conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing is a crucial tool for identifying changes in genes that may lead to various medical conditions. The Genetic Testing Registry (GTR) is a public resource that provides information about genetic tests and their associated genes. In the context of the EVC gene, the GTR lists several tests that can help identify genetic changes related to conditions such as Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.

The GTR provides a comprehensive catalog of tests associated with different genes. These tests can help diagnose genetic conditions and provide important information for medical professionals. The tests listed in the GTR for the EVC gene include:

  1. EVC Gene Sequencing
  2. EVC Gene Deletion/Duplication Analysis
  3. EVC Gene Variant Analysis

Each of these tests focuses on identifying specific genetic changes in the EVC gene. By sequencing, analyzing, or detecting deletions/duplications in this gene, medical professionals can determine if a patient has a variant that may be linked to a genetic condition.

The GTR provides additional information for each test, including references to scientific articles, databases, and other resources. These references can help researchers and clinicians better understand the genetic changes and their implications on health. The GTR also provides OMIM (Online Mendelian Inheritance in Man) numbers for each gene, allowing for further exploration of related diseases and conditions.

In the context of EVC gene-related diseases, the GTR includes information on conditions such as Ellis-van Creveld syndrome and Weyers acrofacial dysostosis. For example, in Ellis-van Creveld syndrome, patients may exhibit acrofacial dysostosis, abnormal nails, and teeth defects. The GTR provides links to articles and resources that offer more in-depth information on these related signs and symptoms.

The GTR plays an essential role in genetic testing by centralizing information on tests, genes, and associated diseases. It provides a platform for accessing up-to-date scientific literature, resources, and databases like PubMed and OMIM. By utilizing the GTR, medical professionals can access comprehensive information about genetic testing for the EVC gene and related conditions, aiding in diagnosis, treatment, and research efforts.

References:

  • EVC Gene Testing – Genetic Testing Registry
  • Ellis-van Creveld Syndrome – Genetic Testing Registry
  • Weyers acrofacial dysostosis – Genetic Testing Registry

Scientific Articles on PubMed

PubMed is a well-known database that provides access to a vast collection of scientific articles related to health and medical research. It is a valuable resource for researchers, healthcare professionals, and anyone interested in exploring the latest findings in various fields.

See Also:  IFT140 gene

Many scientific articles published on PubMed have focused on conditions related to the EVC gene. This gene is responsible for signaling changes in the embryo, leading to the development of Ellis-van Creveld syndrome, a rare genetic condition. These articles provide additional information on the signs, symptoms, and genetic defects associated with this condition.

The PubMed database lists numerous articles regarding Ellis-van Creveld syndrome, each offering valuable insights into the genetic variations, related diseases, and growth defects observed in affected individuals. These articles often reference other genes and pathways that may be involved in the development of this condition. They may also discuss testing methods and available resources for genetic testing.

For those interested in learning more about Ellis-van Creveld syndrome and related conditions, PubMed provides access to articles that explore the scientific aspects of these disorders. The database also includes articles on other syndromes and diseases that share similarities with Ellis-van Creveld syndrome, such as Weyers acrofacial dysostosis and Thomsen syndrome.

In addition to scientific articles, PubMed catalogs various resources that can be useful for researchers and healthcare professionals. These resources include databases and registries that compile information on genetic conditions, genes, and variant information. Furthermore, the database lists additional references for further reading and exploration of the topic.

By utilizing PubMed, researchers and healthcare professionals can access a wealth of scientific information on the EVC gene, Ellis-van Creveld syndrome, and related conditions. This valuable resource allows for the dissemination of knowledge and the advancement of medical understanding in these areas.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genes and genetic diseases. It provides information on genetic defects, their associated signs and symptoms, and references to scientific articles. OMIM is an invaluable resource for researchers, clinicians, and individuals interested in genetic conditions.

The catalog lists genes and diseases related to various conditions, including Ellis-van Creveld syndrome, Weyers acrofacial dysostosis, and Wright syndrome. For each gene or disease, OMIM provides information on the genetic changes associated with the condition, as well as additional clinical features such as nail abnormalities, tooth defects, and growth changes. The database also includes names of other related genes and signaling pathway information.

OMIM offers testing resources for each genetic variant and provides links to databases such as PubMed for further reading on specific genes and diseases. This allows researchers and healthcare professionals to access the latest scientific information and stay up-to-date on advancements in the field.

In addition to the wealth of information on genes and diseases, OMIM also serves as a registry for individuals diagnosed with specific conditions. This registry allows researchers to collect data on individuals with rare genetic disorders and facilitates collaborations between scientists and healthcare providers.

Example of Diseases listed in OMIM:
Disease Name OMIM ID
Ellis-van Creveld syndrome OMIM:225500
Weyers acrofacial dysostosis OMIM:193530
Wright syndrome OMIM:277590

OMIM is a crucial resource for understanding the genetic basis of diseases and provides vital information for researchers, clinicians, and individuals seeking more information about genetic conditions.

Gene and Variant Databases

When it comes to understanding health and genetic conditions, genes play a crucial role in growth, development, and overall well-being. One such gene is the EVC gene, which is associated with Ellis-van Creveld syndrome.

There are several gene and variant databases available that provide valuable information about genetic changes and related diseases. Some of the most widely used databases include PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry (GTR).

The PubMed database is a vast collection of scientific articles and references. It includes information on various genetic conditions, signaling pathways, and related topics. By searching for specific terms like “EVC gene” or “Ellis-van Creveld syndrome,” researchers can find relevant articles and studies to further understand the gene and its role in related conditions.

OMIM, on the other hand, is a catalog of human genes and genetic disorders. It provides detailed information about each gene and its associated diseases. For the EVC gene, OMIM lists the signs and symptoms of Ellis-van Creveld syndrome, including dental abnormalities, nail defects, and skeletal abnormalities.

The Genetic Testing Registry (GTR) is a central location for genetic test information. It provides a list of available tests for specific genes or conditions. By searching for the EVC gene in the GTR, individuals can find information about genetic tests available for Ellis-van Creveld syndrome.

Additionally, there are other resources available for gene and variant information. Websites like GeneCards and UniProt provide amino acid sequences, gene names, and other related data for genes like EVC. These resources can be helpful for researchers and healthcare professionals looking for additional information on the EVC gene and its variants.

In conclusion, gene and variant databases like PubMed, OMIM, and the Genetic Testing Registry provide valuable information on genes like EVC and associated conditions such as Ellis-van Creveld syndrome. By exploring these databases and resources, researchers, clinicians, and individuals can gain a better understanding of genetic changes, diseases, and potential testing options.

References

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