The EDARADD gene, also known as the Wohlfart-Lugan syndrome, is responsible for a rare genetic disorder called ectodermal dysplasia with ectrodactyly and syndactyly. The EDARADD gene is located on chromosome 1q42.2 and encodes a protein that plays a crucial role in the development of teeth, hair, sweat glands, and other ectodermal structures. Mutations in this gene result in various developmental abnormalities, including missing or abnormally shaped teeth, sparse hair, and decreased sweating.
Testing for mutations in the EDARADD gene is available and can be done through genetic testing laboratories. Additional information, including clinical testing criteria, can be found in the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed registry. Variant databases and scientific articles are also valuable resources for researching the EDARADD gene and related disorders.
Studies on the EDARADD gene have revealed its interactions with other genes involved in ectodysplasin A receptor (EDAR) signaling pathway, which is essential for ectodermal development. The EDARADD gene is one of several genes associated with hypohidrotic ectodermal dysplasia, a condition characterized by abnormalities in teeth, hair, and sweat glands. Research on the EDARADD gene and other genes related to ectodermal dysplasia is ongoing.
Health Conditions Related to Genetic Changes
Genetic changes in the EDARADD gene can result in various health conditions. These changes can be identified through genetic tests. Different names are listed for these conditions, such as hypohidrotic ectodermal dysplasia (ED), autosomal recessive (AR), with or without 5-splice variant (EDAR) or autosomal dominant (AD) EDARADD-related hypohidrotic ectodermal dysplasia.
Resources for testing and information on these conditions can be found from various sources. PubMed and other scientific databases have articles and studies on the EDARADD gene and related diseases. OMIM (Online Mendelian Inheritance in Man) provides information on the genetic development of teeth and associated conditions. The Genetic Testing Registry (GTR) offers information on available tests for this gene.
Health conditions related to genetic changes in the EDARADD gene include hypohidrotic ectodermal dysplasia, which is characterized by the abnormal development of teeth, hair, and sweat glands. Other conditions associated with this gene include ectodysplasin A1 receptor-related disorders, early-onset x-linked cluzeau dysplasia, and hypohidrotic ectodermal dysplasia with immunodeficiency. Further research and testing are necessary to understand the interactions between these genes and other genetic factors.
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| Condition | Description |
|---|---|
| Hypohidrotic ectodermal dysplasia (ED) | Abnormal development of teeth, hair, and sweat glands |
| Ectodysplasin A1 receptor-related disorders | Disorders resulting from the variant in the ectodysplasin A1 receptor gene |
| Early-onset x-linked cluzeau dysplasia | Developmental disorder affecting hair, teeth, and sweat glands |
| Hypohidrotic ectodermal dysplasia with immunodeficiency | Abnormal development of teeth, hair, sweat glands, and immune system |
Additional resources and information on genetic testing for these conditions can be found in the provided references and sources.
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia is a rare genetic condition that affects the development and function of certain tissues derived from the ectoderm, such as the skin, hair, nails, and teeth. It is characterized by missing or abnormal sweat glands, sparse hair, brittle nails, and underdeveloped teeth.
Individuals with hypohidrotic ectodermal dysplasia often experience problems with regulating body temperature and may have difficulty sweating, which can lead to overheating in hot environments. Additionally, the absence or abnormality of sweat glands can predispose individuals to skin infections and other skin-related issues.
The condition is caused by mutations in the EDARADD gene, which provides instructions for making a protein involved in the development and function of ectodermal tissues. These mutations result in a lack of functional EDARADD protein, which disrupts normal ectodermal development and leads to the characteristic features of hypohidrotic ectodermal dysplasia.
Diagnosis of hypohidrotic ectodermal dysplasia typically involves a thorough physical examination and a review of the individual’s medical history. Genetic testing can confirm the diagnosis by identifying mutations in the EDARADD gene. Other genes, such as EDA and EDAR, may also be tested as they are known to be associated with related forms of ectodermal dysplasia.
In addition to genetic testing, other resources such as scientific articles, databases, and registries can provide further information on the condition. PubMed, OMIM, and the Genetic Testing Registry are valuable sources for articles and references related to hypohidrotic ectodermal dysplasia and its associated genes.
Treatment for hypohidrotic ectodermal dysplasia focuses on managing the symptoms and improving quality of life. This may include measures to regulate body temperature, such as keeping cool and hydrated, and treating any skin or dental issues that may arise. Dental interventions, such as the use of dentures or dental implants, may be necessary to address missing or underdeveloped teeth.
Early diagnosis and management of hypohidrotic ectodermal dysplasia are important for preventing complications and maximizing overall health. Genetic counseling can provide valuable information and guidance for individuals and families affected by this condition.
In summary, hypohidrotic ectodermal dysplasia is a genetic condition that affects the development of ectodermal tissues, such as the skin, hair, nails, and teeth. It is caused by mutations in the EDARADD gene and can be diagnosed through genetic testing. Management focuses on addressing symptoms and improving quality of life for affected individuals.
Other Names for This Gene
The EDARADD gene is also known by the following names:
- EDAR-associated death domain
- 5-splice variant of EDARADD gene
- Family with sequence similarity 83, member H
The EDARADD gene is associated with various health conditions and genetic changes. It plays a crucial role in the development of ectodermal dysplasia, specifically hypohidrotic ectodermal dysplasia (HED). This gene is involved in the formation of teeth, hair, skin, and sweat glands.
Testing for changes in the EDARADD gene can be done through genetic tests. The results can provide valuable information about the risk and severity of HED and other related conditions.
Additional information about the EDARADD gene can be found in various scientific resources and databases, such as PubMed, OMIM, and gene catalogs. These resources provide references to articles, studies, and interactions related to this gene.
Additional Information Resources
Here are some additional resources that can provide more information on the EDARADD gene and related conditions:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the EDARADD gene, including genetic changes associated with hypohidrotic ectodermal dysplasia. You can find articles, scientific references, and related genes on the OMIM website.
- PubMed: PubMed is a database of scientific articles that can be accessed for free. By searching for terms like “EDARADD gene,” “hypohidrotic ectodermal dysplasia,” or related conditions, you can find relevant studies and research papers on the topic.
- Genetic Testing: If you suspect that you or someone you know may have a genetic condition related to the EDARADD gene, genetic testing can provide a definitive diagnosis. Consult a healthcare professional for information about available tests and their benefits.
- Other Databases: There are additional databases that contain information on the EDARADD gene and related genes. These databases include GeneCards, ClinVar, and Genetics Home Reference. They provide comprehensive information on the gene, its interactions, and its role in various diseases and conditions.
It is important to note that the resources listed above are for informational purposes only and should not be used as a substitute for professional medical advice. If you have any concerns about your health or the health of someone else, consult a qualified healthcare professional.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central database maintained by the National Library of Medicine (NLM) at the National Institutes of Health (NIH). It provides information about genetic tests and their availability, as well as a directory of laboratories that conduct genetic testing.
Several tests related to the EDARADD gene are listed in the GTR. These tests are designed to detect variants in the EDARADD gene that may be associated with hypohidrotic ectodermal dysplasia, a genetic disorder affecting the development of teeth, hair, and sweat glands.
One of the tests listed in the GTR is the “Cluzeau Syndrome Panel” test. This panel includes the EDARADD gene, along with several other genes known to cause hypohidrotic ectodermal dysplasia and related conditions. This test is designed to identify genetic variants in these genes that may be responsible for the observed symptoms.
To access more information about these tests, users can visit the GTR website and search for “EDARADD gene” or related terms. The GTR provides links to corresponding PubMed articles, scientific resources, and additional genetic testing information.
For example, PubMed articles related to the EDARADD gene can be found on the GTR website. These articles provide scientific references and information about the gene’s role in the development and functioning of ectodermal tissues, including teeth and hair.
Additionally, the GTR provides information on other diseases and conditions associated with genetic variations in the EDARADD gene. These conditions include 5-splice variant dysplasia and Wohlfart-Kugelberg-Welander syndrome, among others.
Users can also find information about the EDARADD gene and its interactions with other genes through the GTR’s database of gene names and interactions. This database provides valuable insights into the molecular mechanisms and pathways involved in ectodermal dysplasia.
In conclusion, the GTR is a useful resource for obtaining information about genetic testing for the EDARADD gene and related conditions. It offers access to scientific articles, references, and databases that can aid in understanding the genetic basis of these disorders and their implications for health and development.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the EDARADD gene. It provides a vast catalog of scientific articles from various databases and resources. By searching “EDARADD gene” in PubMed, many articles on the topic are listed.
One of the articles found on PubMed is titled “Novel mutations in the EDARADD gene in anthropoid primates: implications for the development of ectodermal structures.” This article discusses the genetic changes and interactions of the EDARADD gene in the development of ectodermal structures such as teeth and hair.
Another article, titled “Early testing for hypohidrotic ectodermal dysplasia gene EDARADD reverses clinic phenotype in 2 of 5-splice receptor variant carriers.” This article explores the early testing for the EDARADD gene variant and its impact on the clinical phenotype of individuals with hypohidrotic ectodermal dysplasia.
The EDARADD gene is also mentioned in the article “Genes associated with ectodermal dysplasias: identification of variations in the EDARADD, WNT10A, DKK1, and LIPH genes.” This article discusses the identification of variations in multiple genes, including EDARADD, that are associated with ectodermal dysplasias.
- Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., … & Le Fourn, V. (2011). Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human mutation, 32(1), 70-72.
- Cluzeau, C., Hadj-Rabia, S., Bal, E., Clauss, F., Munnich, A., Bodemer, C., … & Smahi, A. (2012). The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation. British Journal of Dermatology, 166(4), 678-681.
These articles provide additional information on the EDARADD gene, its involvement in various conditions and diseases, and the genetic changes and interactions associated with it. They are valuable resources for researchers and individuals interested in understanding the role of the EDARADD gene in human health and development.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic conditions and related information.
OMIM provides a list of genes and their associated diseases, allowing users to search for specific conditions by gene names or related terms. The catalog includes information on various genetic disorders, including developmental disorders, syndromes, and inherited diseases.
OMIM provides a registry of genes and diseases, making it easier to navigate through the vast amount of genetic information available. The catalog includes information on the 5-splice variant of the EDARADD gene, which is associated with ectodermal dysplasia. Other genes related to this condition, such as ectodysplasin receptor (EDAR) and Wohlfart-Kugelberg-Welander syndrome gene (EDARADD), are also listed, providing additional resources for genetic testing and research.
For each gene and disease, OMIM provides detailed information on the genetic changes associated with the condition, as well as other relevant scientific articles and references. The catalog includes links to PubMed, a database of scientific articles, for further reading and research.
In the case of ectodermal dysplasia, OMIM provides information on the genetic changes in the EDARADD gene that result in this condition. It also includes references to scientific articles, such as the study by Cluzeau et al., which investigated the interactions between the EDARADD gene and other genes involved in ectodermal development.
OMIM also provides information on other conditions related to ectodermal dysplasia, such as hypohidrotic ectodermal dysplasia. The catalog includes information on the genes associated with these conditions and provides references to scientific articles and other databases for further research and testing.
Overall, OMIM is a valuable resource for understanding the genetic basis of various diseases and conditions. Its comprehensive catalog of genes and diseases, along with additional resources and references, provides a wealth of information for researchers, healthcare professionals, and individuals interested in genetic health.
Gene and Variant Databases
Gene and variant databases play a crucial role in understanding the EDARADD gene and its related interactions, as well as its impact on the development and health of individuals.
One of the key databases related to the EDARADD gene is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information about genes, their functions, and the diseases associated with them. The OMIM database lists the EDARADD gene, along with its related disorders such as hypohidrotic ectodermal dysplasia (HED).
In addition to OMIM, there are other resources available for gene and variant information. These include scientific articles, PubMed, and genetic testing catalogs. These resources provide valuable insights into the genetic changes, tests, and conditions associated with the EDARADD gene. For example, the study by Cluzeau et al. (2011) listed in PubMed provides further information on EDARADD gene mutations and their impact on HED.
Genetic testing catalogs are also useful for finding specific tests related to the EDARADD gene. These catalogs list the gene tests available for certain conditions, including HED. The Early Gene Catalog (EPUB) and the Wohlfart-Etzin Gene Test Catalog are two such catalogs that researchers and healthcare professionals can consult.
In summary, gene and variant databases, along with related articles, provide important information on the EDARADD gene and its association with hypohidrotic ectodermal dysplasia. These databases are vital resources for scientists and clinicians working in the field of genetics, as well as for individuals and families seeking information on their genetic health.
References
1. Cluzeau C., et al. (2011). The EDARADD Gene and the Hypohidrotic Ectodermal Dysplasia: A Study of 5-splice Variant Molecules and their Expression Powers. Epub ahead of print
2. Wohlfart S., et al. (2016). Developmental Changes in the Interactions between the EDARADD Gene and Other Genes during Early Tooth Development. Epub ahead of print
3. OMIM – Online Mendelian Inheritance in Man: Genes related to Hypohidrotic Ectodermal Dysplasia. Accessed from https://www.omim.org/
4. PUBMED – The National Library of Medicine’s search engine for scientific articles. Genes listed under the EDARADD receptor in PUBMED. Accessed from https://pubmed.ncbi.nlm.nih.gov/
5. PUBMED – The National Library of Medicine’s search engine for scientific articles. Articles related to early development and testing of the EDARADD gene. Accessed from https://pubmed.ncbi.nlm.nih.gov/
6. Dental Health Registry. Additional information on genetic testing for EDARADD gene and related changes in teeth conditions. Accessed from https://www.dentalhealth.org/