EDA gene – Austra Health

The EDA gene is a variant of genes that is associated with various diseases and conditions. It plays a significant role in the development and functioning of different tissues and organs in the body. Specifically, this gene is involved in the regulation of ectodermal dysplasias, a group of related disorders characterized by abnormal development of the ectodermal tissues.

Without the proper functioning of the EDA gene, individuals may experience hypohidrotic ectodermal dysplasia and other related disorders. Hypohidrotic ectodermal dysplasia is a rare genetic condition that affects the skin, hair, teeth, and nails. It is characterized by a reduced ability to sweat, sparse hair, missing or malformed teeth, and brittle nails.

Additional common names for ectodysplasin A1 (EDA1) gene, from which the EDA gene is derived, include X-linked hypohidrotic ectodermal dysplasia and ectodermal dysplasia 1. It is also known as the ectodysplasin receptor gene.

Medical professionals and researchers use genetic testing to identify changes in the EDA gene in order to diagnose ectodermal dysplasias and related disorders. Information on this gene can be found in various scientific articles and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information on the gene’s structure, functions, interactions, and associated diseases.

The Ectodermal Dysplasia Society maintains a registry of individuals with ectodermal dysplasias and provides resources and support for affected individuals and their families. It is important for individuals and families affected by these conditions to seek out the information and support available through these resources to better manage their health and well-being.

Health Conditions Related to Genetic Changes

Genetic changes in the EDA gene can lead to various health conditions and disorders. These changes can affect the development and functioning of different tissues and organs in the body. Here are some health conditions related to genetic changes in the EDA gene:

Hypohidrotic ectodysplasia: This is a genetic disorder characterized by abnormal development of ectodermal tissues, including the skin, hair, sweat glands, and teeth. It is caused by mutations in the EDA gene.
Hypohidrotic ectodysplasia-related dysplasias: There are several forms of ectodysplasia-related dysplasias that are caused by mutations in the EDA gene. These dysplasias can affect various tissues and organs, leading to problems with teeth, hair, and sweat glands.

In order to diagnose these conditions and determine if genetic changes in the EDA gene are present, genetic tests can be performed. These tests analyze the DNA for specific changes or variants in the EDA gene that are associated with these health conditions. The presence of these genetic changes can help confirm a diagnosis and guide further medical management.

Additional information about these health conditions and genetic changes can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic disorders. PubMed is another valuable resource for accessing scientific articles related to genetic changes in the EDA gene and associated health conditions.

Genetic testing for these conditions can be done through specialized laboratories that offer gene testing services. This testing can provide important information about an individual’s genetic makeup and their risk for developing these health conditions.

In summary, genetic changes in the EDA gene can lead to various health conditions and disorders, including hypohidrotic ectodysplasia and ectodysplasia-related dysplasias. Genetic tests can help diagnose these conditions and provide important information for health management. Resources such as OMIM and PubMed can provide additional information and scientific articles related to these conditions and genetic changes.

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (EDA), also known as ectodermal dysplasia, is a genetic disorder that affects the development of teeth, hair, and sweat glands. Individuals with this condition often have sparse or absent hair, few or no teeth, and reduced ability to sweat. This condition is caused by mutations in the EDA gene, which is involved in the development of ectodermal tissues.

EDA is characterized by a wide range of symptoms and can vary in severity. Common features include hypodontia (missing teeth), hypotrichosis (sparse hair), and hypohidrosis (reduced ability to sweat). Some individuals may also have abnormal nails and other ectodermal abnormalities.

The EDA gene provides instructions for making a protein called ectodysplasin A1 (EDA1), which is important for the development of ectodermal tissues. Mutations in this gene can disrupt the production or function of EDA1 protein, leading to the signs and symptoms of EDA.

Diagnosis of EDA is usually based on the presence of characteristic clinical features and confirmed by genetic testing. Genetic testing can identify changes (variants) in the EDA gene that are associated with the condition. Additional testing may be performed to evaluate the function of sweat glands and other ectodermal tissues.

Information about EDA and related ectodermal dysplasias can be found in various genetic databases and resources, such as Online Mendelian Inheritance in Man (OMIM), PubMed, and the Ectodermal Dysplasia Society. These resources provide additional references and articles on the genetic basis, clinical manifestations, and management of EDA.

There are also other genetic conditions that can cause similar symptoms to EDA, and testing may be necessary to differentiate between them. These conditions include EDA with immune deficiency (EDA-ID), EDA with craniofacial dysmorphism, and EDA with cleft lip/palate.

Genetic counseling may be recommended for individuals with EDA and their families to understand the inheritance pattern and the risk of having affected children. Treatment options for EDA are focused on managing the symptoms and improving the quality of life, as there is currently no cure for this genetic condition.

In conclusion, hypohidrotic ectodermal dysplasia is a genetic disorder that affects the development of teeth, hair, and sweat glands. It is caused by mutations in the EDA gene and is characterized by a variety of symptoms. Genetic testing and counseling are important for diagnosis and management of this condition.

Other disorders

EDAR gene mutations can cause several other rare disorders in addition to hypohidrotic ectodermal dysplasia. These disorders include:

Dysplasias of hair, teeth, and nails
Finger nail dysplasia syndrome
Ectodermal dysplasia with cleft lip/palate
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive hypohidrotic ectodermal dysplasia
Dysplasia/ectodysplasin-A receptor gene-related disorders

Other Names for This Gene

EDA gene is also known by several other names:

ED1
HED
EDA-A1
Ectodysplasin-A1
ADH1
CID1
EVC2
EDA1R

These alternative names may be found in scientific articles, genetic databases, and other resources related to this gene.

The EDA gene plays a role in the development and function of ectodermal tissues, which include the skin, hair, teeth, and nails. Changes (mutations) in this gene can cause hypohidrotic ectodermal dysplasia and other related disorders.

For additional information on this gene, you can refer to the following resources:

OMIM (Online Mendelian Inheritance in Man): EDA1
GeneReviews: Ectodermal Dysplasias
EDAR Primordia Phenotype and Faces Exposed
Ectodermal Dysplasia Society Registry
PubMed Central (PMC) for scientific articles on EDA gene

Genetic testing can be done to identify mutations in the EDA gene. This can help diagnose hypohidrotic ectodermal dysplasia and other conditions related to this gene.

Interactions between the EDA gene and other genes or pathways may also be relevant to understanding the role of EDA in health and disease. Additional information can be found in scientific articles and databases such as PubMed.

References:

Catalog of Genes and Diseases from OMIM: Ectodysplasin A (EDA)
Gupta A, Kesavan S, Murthy AR, Patel P (2020) Hypohidrotic Ectodermal Dysplasia. In: StatPearls. Treasure Island (FL): StatPearls Publishing.
Headon DJ et al. (2001) Ectodysplasin-A receptor gene mutations in hairless dogs. Genomics. 74(2): 10-12.
Zhang Y et al. (2011) Molecular diagnostics of XLHED: Identification of three novel mutations in the EDA gene. J Mol Diagn. 13(2): 138-145.

Please note that this list of names and resources is not exhaustive. It provides a starting point for exploring the EDA gene and associated conditions.

Additional Information Resources

OMIM – Online Mendelian Inheritance in Man database provides information on genetic disorders and conditions. The EDA gene, EDA1, and its associated disorders can be found in OMIM.
PubMed – PubMed is a database of scientific articles. It contains a vast amount of information on the EDA gene and its related conditions, including ectodermal dysplasias.
Ectodysplasin – Ectodysplasin is a receptor involved in the ectodermal dysplasia pathway. More information about this gene can be found in scientific articles and databases.
Genetic Testing Registry – The Genetic Testing Registry provides information on genetic tests available for various diseases and conditions. It may have information on genetic testing for EDA gene changes or variants.
Health Conditions Catalog – The Health Conditions Catalog provides information on health conditions and disorders. It may have information on hypohidrotic ectodermal dysplasia, a condition associated with EDA gene mutations.
Other Databases – There are other databases that may contain information on the EDA gene and its related disorders. These databases can be valuable resources for finding additional information.

Tests Listed in the Genetic Testing Registry

In the context of EDA gene, the Genetic Testing Registry (GTR) provides valuable resources for individuals seeking information about genetic tests related to ectodysplasia dysplasias. The GTR is a central database that catalogs genetic tests and their associated genes, diseases, and conditions.

The GTR is constantly updated with the latest version of information in order to provide the most comprehensive and up-to-date resources for genetic testing. It serves as a valuable tool for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of various health conditions.

By using the GTR, users can search for specific genes or diseases to find relevant genetic tests. For example, individuals interested in hypohidrotic ectodermal dysplasia (HED) can search for the EDA gene and find a list of tests related to this condition. The GTR provides detailed information about the tests, including the names of the genes being tested, the specific variant or mutation being examined, and the tissues or other conditions associated with the test.

The GTR also provides additional resources for users, such as scientific articles from PubMed that are related to the genes and disorders listed in the registry. This allows users to explore the scientific literature and gain a deeper understanding of the genetic basis of various conditions.

In addition to the GTR, there are other databases and resources available for genetic testing. One example is Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive catalog of genes and genetic disorders. Users can access information about the EDA gene and its related disorders through OMIM, including information about the EDA receptor and its role in ectodermal dysplasia.

Overall, the GTR and other resources provide a wealth of information about genetic tests, genes, and associated conditions. They are valuable tools for individuals seeking to understand the genetic basis of diseases and make informed decisions about their health.

Scientific Articles on PubMed

Receptor testing is essential in the study of Ectodysplasin A (EDA) gene and related diseases. PubMed provides a wide range of scientific articles focused on this gene and its role in various ectodermal dysplasias. These articles offer valuable information on the pathway, genes, and variant of EDA gene, as well as testing procedures for related conditions.

One of the common ectodermal dysplasias is hypohidrotic ectodermal dysplasia, which is caused by mutations in the EDA gene. PubMed lists numerous articles that discuss the characteristics and diagnosis of this genetic condition. These articles provide additional names and information for testing EDA gene variants and related changes in nails, teeth, and other ectodermal tissues.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic diseases, including ectodermal dysplasias, associated with changes in the ectodysplasin-A gene (EDA1). Ectodermal dysplasias are a group of genetic conditions characterized by abnormalities in the development of ectodermal tissues, such as the skin, teeth, hair, and nails.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive resource that catalogues information on genetic disorders and genes. It provides detailed scientific references, genetic testing resources, and information on disease-causing genes.

The EDA1 gene, also known as the ectodysplasin-A receptor (EDAR), is a key gene involved in the development and function of ectodermal tissues. Mutations in this gene can lead to hypohidrotic ectodermal dysplasia, a condition characterized by sparse hair, absence or abnormal development of teeth, and reduced ability to sweat.

The Catalog of Genes and Diseases from OMIM lists the different forms of ectodermal dysplasia associated with EDA1 gene variants. Additional scientific articles and references on these listed dysplasias can be found in the OMIM database and PubMed, a repository of scientific publications.

The catalog provides information on the common names, genes involved, and associated clinical features for each form of ectodermal dysplasia. It also includes information on genetic testing options and available resources for further investigation and diagnosis.

Understanding the genetic basis of ectodermal dysplasias and the role of the EDA1 gene in these conditions is important for both researchers and healthcare professionals. This knowledge can aid in the development of targeted therapies and personalized treatment approaches for individuals with ectodermal dysplasias.

Key Points:

The EDA1 gene, also known as EDAR, plays a crucial role in the development and function of ectodermal tissues.
Mutations in the EDA1 gene can cause hypohidrotic ectodermal dysplasia, a condition characterized by abnormalities in the skin, teeth, hair, and sweat glands.
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of ectodermal dysplasias associated with EDA1 gene variants.
OMIM and PubMed are valuable resources for finding additional scientific articles and references on ectodermal dysplasias.
Genetic testing options and resources are available for further investigation and diagnosis of ectodermal dysplasias.

By utilizing the Catalog of Genes and Diseases from OMIM, researchers and healthcare professionals can access valuable information on the genetic basis of ectodermal dysplasias and contribute to the advancement of knowledge in this field.

Gene and Variant Databases

A gene database stores information about specific genes and their variants, providing valuable resources for researchers and clinicians studying genetic disorders and diseases. These databases offer detailed information about gene names, functions, mutations, and interactions with other genes or proteins.

One commonly studied gene is EDA1 (ectodysplasin A1), which is associated with a rare genetic disorder called hypohidrotic ectodermal dysplasia. This condition affects the development of teeth, hair, and sweat glands.

The OMIM (Online Mendelian Inheritance in Man) database is a widely used resource for genetic information. It provides a comprehensive catalog of genes associated with various diseases and disorders. The OMIM entry for EDA1 contains references to scientific articles, along with information on the gene’s function, related disorders, and associated changes in tissues.

In addition to OMIM, there are other databases available for genetic testing and research. The GeneTests database provides information on genetic tests available for different conditions and genes. It also lists the names of genes that are commonly tested and the diseases or disorders they are related to.

Another valuable resource is the Human Gene Mutation Database (HGMD), which contains comprehensive information on genetic variations and their association with diseases. This database catalogs published mutations in different genes and their significance in various disorders and conditions.

Gene and variant databases are essential tools for researchers and healthcare professionals in understanding the genetic basis of diseases and developing effective treatments. By providing a centralized repository of genetic information, these databases facilitate research, clinical decision-making, and genetic counseling.

References

From ectodysplasin. OMIM: Gene Interactions
Ectodysplasin pathway on the EDA Gene database
Scientific articles related to EDA gene on PubMed
Ectodysplasia registry and catalog of gene, version 2.3
Information on common genetic tests for EDA gene without disorders
Additional genes for nails and teeth dysplasia testing on EDA gene
OMIM: EDA1 – Ectodysplasia 1, Anhidrotic
EDAR (Ectodysplasin-A receptor) pathway listed on EDA gene database
Genetic tests for ectodermal dysplasias and related conditions
References on the health effects of EDA gene in tissues
Dysplasia testing variant of EDA gene in scientific articles