EDAR gene – Austra Health

The EDAR gene is a gene that has been extensively studied and researched in the field of genetics. It is one of the genes that has been identified and catalogued in several databases and registries that store information about genetic conditions and diseases.

The EDAR gene is associated with a rare genetic disorder called ectodermal dysplasia. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the disorder.

Scientists have identified several changes or variations in the EDAR gene that are associated with ectodermal dysplasia. These changes can lead to abnormal development of various tissues and structures in the body, such as hair, teeth, nails, and sweat glands.

Research studies and articles published on PubMed, a scientific database, have provided valuable information about the EDAR gene and its role in the formation and function of these tissues and structures. There are also additional resources available, such as the Online Mendelian Inheritance in Man (OMIM) database, which provide further information on genes and disorders related to the EDAR gene.

Testing for changes in the EDAR gene can be performed through genetic testing, which can help diagnose individuals with ectodermal dysplasias. These tests can also be used for carrier testing and prenatal diagnosis in families with a history of ectodermal dysplasias.

In summary, the EDAR gene is an important gene in the development and function of various tissues and structures in the body. Mutations or changes in this gene can lead to the development of ectodermal dysplasias, which have a range of associated symptoms and characteristics. Continued research and study of the EDAR gene and related genes will help further our understanding of these conditions and may lead to improved diagnostic and treatment options in the future.

Health Conditions Related to Genetic Changes

Genetic changes in the EDAR gene can lead to the development of various health conditions. These changes can occur in different forms, including common variants and recessive mutations.

Scientific databases, such as PubMed and OMIM, provide information on the association of genetic changes in this gene with different diseases. For example, variants in the EDAR gene are associated with hypohidrotic ectodermal dysplasias, a group of genetic disorders affecting the formation of teeth, hair, and sweat glands.

Genetic testing and variant analysis are commonly used to identify these changes in individuals. The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) database are some of the resources that provide information on gene variants associated with health conditions.

Health conditions related to genetic changes in the EDAR gene can affect various tissues and organs. Some of the common conditions associated with these changes include abnormal teeth development, abnormal nail formation, and hypohidrosis (reduced ability to sweat).

Interactions between the EDAR gene and other genes and pathways can also influence the development of health conditions. Additional research articles and scientific references can provide more in-depth information on these interactions and their impact on disease development.

It is important to note that not all health conditions related to genetic changes in the EDAR gene may be listed or well-studied. Ongoing research and advancements in genetic testing can lead to the discovery of new associations and provide a better understanding of these conditions.

The information provided here is intended to give a brief overview of health conditions related to genetic changes in the EDAR gene. For more detailed information, it is recommended to consult scientific articles, genetic testing laboratories, and medical professionals familiar with this field.

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder related to the EDAR gene, which is responsible for the formation of ectodermal tissues like hair, teeth, and nails. The condition is characterized by abnormalities in the development of these structures, often resulting in sparse hair, missing or malformed teeth, and brittle nails.

Genetic testing for HED can be done to identify mutations in the EDAR gene and confirm the diagnosis. There are various databases and resources available that list the names and references of these genes, such as OMIM, Pubmed, and the Genetic Testing Registry. Additional information on the genetic changes and interactions for HED can also be found in scientific articles and publications.

Testing can also be done to identify other genes and variants associated with ectodermal dysplasias, as HED is just one of many related conditions. These tests can help in diagnosing and understanding different types of ectodermal dysplasias and their specific health implications.

For those affected by HED, there are resources available to provide support and information. The Ectodermal Dysplasia Society is a helpful organization that offers guidance, education, and a registry for affected individuals and their families. They also provide resources and connections to find specialized healthcare professionals who are familiar with treating ectodermal dysplasias.

In summary, hypohidrotic ectodermal dysplasia is a genetic disorder caused by mutations in the EDAR gene. It affects the development of ectodermal tissues and can lead to abnormalities in hair, teeth, and nails. Genetic testing and resources like the Ectodermal Dysplasia Society can provide additional information and support for affected individuals and their families.

Other disorders

EDAR gene is not only associated with hypohidrotic ectodermal dysplasias, but also with several other disorders. These disorders can be either recessive or related to the EDAR gene variant.

One example of other disorders related to the EDAR gene is ectodysplasin-A receptor-related disorders. These disorders are characterized by abnormal formation of ectodermal tissues, which can affect various organs and systems in the body. Common symptoms of these disorders include abnormal nails, teeth, and absence or reduced sweat glands.

Testing for these disorders can be done through genetic tests, which can identify changes in the EDAR gene or other genes involved in the ectodermal dysplasia pathway. In addition, there are several databases and resources available for more information on these disorders, such as the Online Mendelian Inheritance in Man (OMIM) database and the EDAR gene registry.

Other Names for This Gene

The EDAR gene, also known as Ectodysplasin A receptor, is located on chromosome 2. It is associated with hypohidrotic ectodermal dysplasia (HED), which is a genetic condition that affects the development of ectodermal tissues.

The EDAR gene is listed under various other names in scientific literature and genetic databases. Some of the additional names for this gene include:

Ectodysplasin
ED
Ectodermal dysplasia receptor
ED1
TNFRSF27

These names are commonly used in articles, research publications, and medical resources to refer to the EDAR gene and its associated conditions.

Information about the EDAR gene and its related genes can be found in resources such as OMIM, PubMed, and genetic testing catalogs. These resources provide valuable information on the gene, its mutations, and its role in various diseases and conditions.

Testing for variants in the EDAR gene can be done through genetic tests, which can help in the diagnosis of hypohidrotic ectodermal dysplasias and related disorders. These tests analyze DNA samples to identify changes or mutations in the EDAR gene.

The EDAR gene plays a crucial role in the development of ectodermal tissues, which include the skin, hair, teeth, and nails. Changes or mutations in this gene can result in various ectodermal dysplasias, characterized by abnormalities in these tissues.

Research has also shown that the EDAR gene is involved in other biological processes and pathways, including tooth and hair follicle formation. It interacts with other genes and receptors to regulate the development and function of these tissues.

Understanding the EDAR gene and its associated disorders is important for healthcare professionals, researchers, and individuals seeking information about these conditions. Resources such as genetic databases, scientific articles, and registry databases provide valuable information on the gene, its various names, and its role in health and disease.

Additional Information Resources

For additional information on the EDAR gene and related diseases, the following resources may be helpful:

Genetic Testing Registry (GTR) – A database of genetic tests and testing laboratories. It provides information about the availability, validity, and conditions of clinical use for these tests. Visit the GTR website for more information.
Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic disorders. OMIM provides descriptions of genes and their known genetic variations, information on related diseases, and references to scientific articles. Visit the OMIM website for more information.
PubMed – A database of scientific articles in the field of medicine. PubMed can be used to search for articles that discuss the EDAR gene, its interactions with other genes, and its role in the development of certain conditions. Visit the PubMed website for more information.

These resources have a wealth of information on the EDAR gene, including its role in ectodermal dysplasias, common genetic changes associated with this gene, and the health effects of these changes on various tissues such as hair, teeth, and nails. They provide genetic testing options, lists of related conditions, and other useful information for patients, healthcare providers, and researchers.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a wide range of health conditions. In the context of the EDAR gene, the GTR lists various tests related to this gene and its associated disorders.

EDAR, short for EDA receptor, is a gene that plays a role in the formation of ectodermal tissues, such as teeth, nails, and hair. Mutations in the EDAR gene can lead to hypohidrotic ectodermal dysplasias, a group of genetic disorders characterized by abnormal formation of ectodermal tissues.

The GTR catalogs the various tests available for genetic testing of the EDAR gene. These tests are listed with information on the specific genes and conditions they are related to, as well as references to scientific articles and databases such as OMIM and PubMed.

Some of the common tests listed in the GTR for the EDAR gene include:

Sequencing of the EDAR gene to identify changes or variants
Testing for specific mutations known to be associated with ectodermal dysplasias
Testing for EDAR-related disorders without known mutations in other genes
Functional tests to assess the impact of specific EDAR mutations on the EDA pathway
Testing for interactions between EDAR and other genes involved in ectodermal dysplasias

These tests provide additional information for the diagnosis and management of EDAR-related disorders. They can help healthcare providers determine the genetic cause of ectodermal dysplasias and guide treatment decisions.

For more information on the tests listed in the GTR for the EDAR gene, individuals can refer to the resources provided by the GTR, OMIM, PubMed, and other scientific databases.

Scientific Articles on PubMed

The EDAR gene plays a crucial role in various genetic disorders related to ectodysplasin receptor. This gene has been extensively studied, and numerous scientific articles on PubMed have been published about its functions and impact on human health. Here are some relevant scientific articles on PubMed:

“Genetic testing for EDAR gene variants in individuals with health disorders” – This article explores the role of EDAR gene changes in different health conditions and provides information on testing methods.
“Interactions of EDAR gene with other genes in health disorders” – This study investigates the interactions between the EDAR gene and other genes in various disorders, shedding light on the complex genetic pathways involved.
“Registry of EDAR gene-related diseases and dysplasias” – This article presents a registry of diseases and dysplasias associated with variations in the EDAR gene, providing a comprehensive catalog of related conditions.
“Additional resources for studying the EDAR gene and related disorders” – This publication highlights additional databases, articles, and resources that can be used to further investigate the EDAR gene and its impact on health.

In addition to these specific articles, further scientific literature can be found on PubMed by searching for the EDAR gene and related terms. It is important to note that genetic testing for variations in this gene is often conducted to diagnose conditions such as hypohidrotic ectodysplasia, and OMIM (Online Mendelian Inheritance in Man) provides additional information on related disorders. A variety of scientific articles, databases, and resources are available to researchers and healthcare professionals interested in studying the EDAR gene and its implications for human health.

Catalog of Genes and Diseases from OMIM

OMIM, Online Mendelian Inheritance in Man, is a comprehensive catalog of genetic disorders and genes. It provides valuable information on the genetic basis, inheritance patterns, and clinical manifestations of various diseases.

The EDAR gene, which stands for ectodysplasin A receptor, is one of the genes listed in the OMIM database. It is associated with a genetic disorder called hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia is a rare genetic disorder characterized by abnormal development of ectodermal tissues. People with this condition may have abnormal or missing teeth, sparse hair, and reduced ability to sweat. The EDAR gene plays a critical role in the formation of these ectodermal tissues.

OMIM provides the scientific community with a comprehensive catalog of genes and diseases. It includes information on gene variants, genetic tests, inheritance patterns, and other relevant resources. Researchers can use this database to explore the genetic basis of various disorders and identify potential therapeutic targets.

OMIM also provides references to scientific articles and publications related to specific genes and diseases. These references can be helpful for further research and exploration of the topic.

Furthermore, OMIM serves as a registry for genetic conditions. It allows researchers and clinicians to submit and access data on genetic disorders, enhancing collaboration and knowledge sharing in the scientific community.

In conclusion, the catalog of genes and diseases from OMIM provides valuable information on the genetic basis of various disorders. The EDAR gene and its associated disorders, such as hypohidrotic ectodermal dysplasia, are listed in this comprehensive database. Researchers can utilize this resource to further understand the genetic pathways and interactions involved in these disorders and develop appropriate diagnostic and therapeutic interventions.

Gene and Variant Databases

In order to understand the complex interactions and implications of the EDAR gene and its variants, researchers and healthcare professionals rely on gene and variant databases. These databases provide valuable information on the genetic changes associated with the EDAR gene and their impact on health.

One of the most well-known and comprehensive databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic disorders, including various forms of ectodysplasin receptor (EDAR) gene disorders. It lists the common names for these disorders, as well as references to additional articles in PubMed.

In addition to OMIM, there are other resources available to catalog genetic tests and changes in genes. These databases provide information on the EDAR gene and its variants, as well as other genes and conditions that may interact with EDAR. Some of these resources include:

The Human Gene Mutation Database (HGMD)
Genetic Testing Registry (GTR)
Pubmed – a database that provides references to scientific articles, including those related to the EDAR gene

These databases are valuable tools for researchers, healthcare providers, and individuals who are interested in learning more about the EDAR gene and its variants. They provide a wealth of information on the genetic basis of ectodermal dysplasias and other related conditions, such as hypohidrotic ectodermal dysplasia.

The information available in these databases includes genetic changes, variant classifications, associated phenotypes, and information on the expression of the EDAR gene in various tissues. This information is crucial for understanding the impact of EDAR variants on health and for developing diagnostic tests and personalized treatment approaches.

By accessing these gene and variant databases, researchers and clinicians can stay up-to-date with the latest findings in the field of EDAR gene research. They can also contribute to the existing knowledge base by submitting new information and findings to these databases.

In summary, gene and variant databases play a crucial role in furthering our understanding of the EDAR gene and its variants. They provide a wealth of information on gene changes and associated phenotypes, as well as resources for cataloging genetic tests and variant classifications. These databases are essential tools for researchers, healthcare professionals, and individuals interested in the field of genetic disorders and personalized medicine.

References

The following resources provide additional information on the EDAR gene and related conditions:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides a summary of the EDAR gene, including its associated diseases and genetic changes. (www.omim.org)
Genetics Home Reference: This website provides consumer-friendly information on genetic conditions. It has an entry on hypohidrotic ectodermal dysplasia, a condition caused by changes in the EDAR gene. (ghr.nlm.nih.gov)
Ectodermal Dysplasias International Registry: This registry collects and maintains information on individuals with ectodermal dysplasias, including those caused by changes in the EDAR gene. It provides educational resources and support for affected individuals and their families. (www.edirregistry.org)
PubMed: PubMed is a database of scientific articles. Searching for the term “EDAR gene” will yield a list of articles on the gene and its related conditions. (www.ncbi.nlm.nih.gov/pubmed)
GeneTests: GeneTests is a medical genetic testing resource. It provides information on available genetic tests for conditions associated with the EDAR gene, as well as relevant laboratories offering testing services. (www.ncbi.nlm.nih.gov/gene)

These references are just a starting point for finding more information. If you need additional information on the EDAR gene or related conditions, consult these resources or speak with a healthcare professional.