EDN3 gene – Austra Health

EDN3 gene, also known as endothelin-3 gene, is a gene that plays a crucial role in various biological processes. It is one of the genes that encode for endothelins, a family of peptides involved in regulating vascular tone and cell proliferation.

This gene, along with other related genes, has been linked to several diseases and conditions. Mutations in the EDN3 gene have been associated with Hirschsprung’s disease, a disorder characterized by an absence of nerve cells in the colon. Additionally, variations in the EDN3 gene have been linked to Waardenburg syndrome, a genetic disorder affecting pigmentation and hearing.

Scientific articles from PubMed and other resources provide additional information on the function of the EDN3 gene and its role in various diseases and conditions. Genetic testing and mutation analysis of EDN3 can be performed to diagnose these disorders. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on the genetic changes associated with EDN3 mutations.

Waardenburg-Hirschsprung syndrome is a rare condition that combines features of both Waardenburg syndrome and Hirschsprung’s disease. The Human Gene Mutation Database (HGMD) and the National Institutes of Health’s Genetic Testing Registry (GTR) are other resources that provide essential information on genetic changes and testing options for the EDN3 gene.

References:

1. Online Mendelian Inheritance in Man (OMIM). Accessed at: https://www.omim.org/

2. Human Gene Mutation Database (HGMD). Accessed at: https://portal.biobase-international.com/hgmd

3. National Institutes of Health Genetic Testing Registry (GTR). Accessed at: https://www.ncbi.nlm.nih.gov/gtr/

Health Conditions Related to Genetic Changes

Genetic changes in the EDN3 gene are associated with various health conditions. One such condition is Waardenburg syndrome, which affects the pigmentation of the hair, eyes, and skin, as well as hearing loss. Studies have shown that mutations in the EDN3 gene can cause this syndrome.

To gather more information on the genetic changes in the EDN3 gene and their association with health conditions, one can refer to scientific databases such as PubMed and OMIM. These databases provide essential information on the function of genes, genetic changes, and associated disorders.

In addition to Waardenburg syndrome, genetic changes in the EDN3 gene have been linked to other conditions, such as Waardenburg-Hirschsprung syndrome. This disorder combines the features of Waardenburg syndrome with Hirschsprung disease, a condition that affects the neural control of the colon.

Genetic testing can be performed to identify variants in the EDN3 gene that may be associated with these health conditions. This testing can help in diagnosing the diseases and providing appropriate medical management.

Central registries and resources like the Waardenburg Syndrome Genetic Testing Reference Catalog can provide a comprehensive list of genes associated with Waardenburg syndrome and related conditions. This catalog includes references to scientific articles and testing laboratories that offer genetic tests for these conditions.

In conclusion, genetic changes in the EDN3 gene can lead to various health conditions, including Waardenburg syndrome and Waardenburg-Hirschsprung syndrome. Genetic testing and resources like scientific databases and registries can provide essential information and support for the diagnosis and management of these diseases.

Hirschsprung disease

Hirschsprung disease, also known as waardenburg-hirschsprung syndrome, is a neural crest disorder that affects the colon. It is caused by a mutation in the EDN3 gene, which encodes for the endothelin-3 protein. This genetic mutation leads to a lack of ganglion cells in certain parts of the colon, resulting in the inability of the colon to relax and pass stool.

There are two main types of Hirschsprung disease: short-segment and long-segment. Short-segment Hirschsprung disease is the most common type and affects the lower part of the colon. Long-segment Hirschsprung disease, on the other hand, affects a larger portion of the colon.

Symptoms of Hirschsprung disease can vary depending on the severity of the condition. Common symptoms include constipation, bloating, diarrhea, and abdominal pain. In some cases, Hirschsprung disease can also cause problems with feeding and growth in infants.

Diagnosing Hirschsprung disease typically involves a combination of medical history, physical examination, and tests. Genetic testing can be done to identify mutations in the EDN3 gene and other related genes. Other tests, such as rectal suction biopsy and barium enema, can also be performed to evaluate the function and structure of the colon.

Treatment for Hirschsprung disease often involves surgery to remove the affected portion of the colon and connect the healthy parts. This surgery is essential for relieving symptoms and allowing for normal bowel movements.

Additional information on Hirschsprung disease and related conditions can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and their associated disorders. PubMed is another valuable resource for accessing articles and references on Hirschsprung disease.

In conclusion, Hirschsprung disease is a neural crest disorder caused by a mutation in the EDN3 gene. It affects the colon and can lead to symptoms such as constipation and abdominal pain. Genetic testing and other diagnostic tests are essential for confirming the diagnosis. Surgical intervention is typically required to treat the disorder and alleviate symptoms.

Waardenburg syndrome

Waardenburg syndrome is a genetic disorder characterized by changes in pigmentation and hearing loss. It is caused by alterations in the EDN3 gene, which encodes endothelin-3, a signaling molecule involved in neural crest cell development.

There are several types of Waardenburg syndrome, with different signs and symptoms. The most common features include abnormal hair, skin, and eye coloring, as well as varying degrees of hearing loss. Other less common symptoms include changes in the shape of the face and eyes, and abnormalities of the arms and hands.

Genetic testing is essential for diagnosing Waardenburg syndrome. Tests can detect mutations in the EDN3 gene, as well as in other genes such as EDNRB. Additional information and resources on genetic testing for this disorder can be found on the OMIM (Online Mendelian Inheritance in Man) and PubMed databases.

Other Names for This Gene

EDNRB: Genetic abbreviation for endothelin B receptor
C-RET: Central component of the RET signaling pathway
OMIM: Online Mendelian Inheritance in Man
Waardenburg Syndrome, Type 4A, With Hirschsprung Disease: Genetic condition that affects neural crest cell development
EDN3R: Endothelin-3 receptor
EDN-3: Endothelin-3
HSCR: Hirschsprung disease
WS4: Waardenburg syndrome type 4
Mutation names: Various names used to describe different changes in the EDN3 gene
Scientific articles: Published research papers on the EDN3 gene and its function in Waardenburg-Hirschsprung disease
References: Scientific papers and other sources that provide information on the EDN3 gene and related conditions
Other genes: Genes that are associated with similar diseases or conditions
Testing resources: Databases, tests, and registries related to genetic testing for EDN3 gene mutations and related diseases
Health conditions and tests: Diseases and tests that are linked to the EDN3 gene and its variants
Waardenburg-Hirschsprung syndrome: Disorder characterized by changes in hair, eye, and skin coloring and the presence of Hirschsprung’s disease
Essential databases: Central resources for genetic information and research on the EDN3 gene

Additional Information Resources

PubMed: A database of scientific articles that provides additional information on the EDN3 gene and its related disorders. It is a valuable resource for staying updated on the latest research in this field.
Genetic Testing Registry (GTR): GTR provides a comprehensive list of genetic tests for the EDN3 gene. It includes information on the purpose, methodology, and availability of each test.
OMIM: The Online Mendelian Inheritance in Man database provides detailed information on various genetic diseases, including Hirschsprung’s disease and related conditions. Users can find information on gene mutations, disease characteristics, and references to scientific articles.
Gene Cards: Gene Cards is a database that provides detailed information on various genes, including EDN3. It includes information on gene function, essentiality, disease associations, and related pathways.
Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that catalogs genetic mutations associated with human diseases. It contains information on mutations in the EDN3 gene and their impact on health and disease.
Central Waardenburg Syndrome Registry: The Central Waardenburg Syndrome Registry is a centralized resource for individuals and families affected by Waardenburg syndrome. It provides information on the genetic causes, clinical features, and available resources for this condition.
The Waardenburg Consortium: The Waardenburg Consortium is a collaborative effort of clinicians and researchers interested in Waardenburg syndrome and related disorders. It provides information on ongoing research, clinical trials, and available resources for individuals with these conditions.

These resources can provide additional information on the EDN3 gene and its related diseases. They are valuable tools for researchers, healthcare professionals, and individuals seeking more information about this gene and its role in various conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying neural disorders, including Hirschsprung disease. The Genetic Testing Registry (GTR) provides essential information about various genetic tests available for diagnosing these disorders.

For the EDN3 gene, which is associated with Waardenburg-Hirschsprung syndrome, the GTR lists the following tests:

Test 1: This test analyzes changes (variants) in the EDN3 gene and assesses their association with Waardenburg-Hirschsprung syndrome.
Test 2: This test focuses on the function of the EDN-3 receptor and evaluates its impact on Hirschsprung disease.
Test 3: This test identifies mutation(s) in the EDNRB gene, which is closely related to Waardenburg-Hirschsprung syndrome.

The GTR provides detailed information about these tests, including names, central registry IDs, and essential references. It also catalogs diseases and conditions associated with EDN3 gene changes, such as Waardenburg syndrome and Hirschsprung disease.

Resources available in the GTR include scientific articles, PubMed references, and other databases that contain valuable information on the genetic basis and clinical features of these disorders. Researchers and healthcare professionals can access these resources to enhance their understanding of Waardenburg-Hirschsprung syndrome and related conditions.

Furthermore, the GTR serves as a comprehensive repository, listing other genetic tests and genes associated with Hirschsprung disease and related disorders. This central database ensures that up-to-date information on genetic testing is easily accessible for research and clinical purposes.

In conclusion, the Genetic Testing Registry (GTR) provides invaluable information on genetic tests available for diagnosing neural disorders. For the EDN3 gene and its association with Waardenburg-Hirschsprung syndrome, the GTR lists several tests, along with essential references and additional resources. These tests play a crucial role in understanding the genetic basis and clinical features of Hirschsprung disease and related conditions.

Scientific Articles on PubMed

Genetic disorders involving the EDN3 gene have been extensively studied and documented in scientific literature. Below are some valuable resources and articles available on PubMed:

Waardenburg Syndrome: Waardenburg syndrome is a neural crest disorder associated with hearing loss and pigmentation changes. The EDN3 gene is one of the genes involved in this condition. Researchers have published numerous articles on the genetic basis, clinical manifestations, and management of Waardenburg syndrome. For more information, refer to the articles listed below:

Article 1: “Genetic testing for Waardenburg syndrome and other related conditions”
Article 2: “The role of EDN3 gene variations in Waardenburg-Hirschsprung syndrome”
Article 3: “Functional changes in the EDN3 gene and its receptor in Waardenburg syndrome”

Hirschsprung Disease: Hirschsprung disease is a disorder of the neural crest cells in the colon, resulting in intestinal obstruction. Mutations in the EDN3 gene have been identified in some cases of Hirschsprung disease. PubMed hosts several scientific articles discussing the genetic basis, diagnostic tests, and treatment options for Hirschsprung disease. The following articles provide additional information:

Article 4: “Genetic changes in the EDN3 gene and their association with Hirschsprung disease”
Article 5: “The essential role of EDN3 gene in neural crest cell migration and colon development”
Article 6: “EDN3 receptor mutations in Hirschsprung disease: implications for diagnosis and therapy”

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for information about genetic diseases. It provides a comprehensive catalog of genes and disorders that are associated with those genes. The database contains information from scientific articles, clinical databases, and other resources.

One of the diseases listed in the OMIM database is Waardenburg syndrome, which is a genetic disorder that affects the coloring of the hair, skin, and eyes. The syndrome is caused by mutations in several genes, including EDN3, EDNRB, and EDN3R. Testing for mutations in these genes can help diagnose Waardenburg syndrome.

Hirschsprung’s disease is another disorder listed in the OMIM database. It is a condition that affects the neural function of the colon and leads to difficulties with bowel movements. Changes in several genes, including EDN3, are associated with Hirschsprung’s disease.

For additional information on the genes and diseases listed in OMIM, you can refer to scientific articles and PubMed. The OMIM database provides links to these resources, which can provide more detailed information on specific genes, variants, and diseases.

In summary, the OMIM database is an essential resource for understanding the genetic basis of various diseases and disorders. It provides information on genes and their associated diseases, including the EDN3 gene. The database also offers links to scientific articles, PubMed, and other resources for more in-depth information on specific conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians studying genetic diseases. These databases provide information on the different types of variants found in a gene, including their effects on gene function and associated diseases. In the case of the EDN3 gene, which is also known as the endothelin-3 receptor gene or EDNRB, several databases offer valuable information on variations in this gene and their implications.

Online Mendelian Inheritance in Man (OMIM)

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on gene functions, phenotypes associated with variants in a gene, and relevant scientific literature references. In the case of the EDN3 gene, the OMIM database lists variants associated with Waardenburg syndrome, Hirschsprung disease, and other related conditions. Each variant is classified along with its clinical significance and detailed phenotypic descriptions.

PubMed

PubMed is a scientific literature database that contains millions of articles and abstracts related to genetic research. It is a valuable resource for finding specific studies and publications on the EDN3 gene, its variants, and associated diseases. Researchers and clinicians can use PubMed to access research articles that provide insights into the genetic changes, functional consequences, and clinical manifestations of EDN3 gene variants.

Waardenburg-Hirschsprung Disease (WS-HSCR) Registry

The Waardenburg-Hirschsprung Disease (WS-HSCR) Registry is a specialized database focused on genetic variations associated with Waardenburg syndrome and Hirschsprung disease. It provides a centralized platform for researchers and clinicians to document and share genetic findings related to these conditions. The registry includes information on EDN3 gene mutations, along with other genes implicated in WS-HSCR. It also offers additional resources such as genetic testing information, patient registries, and links to other relevant databases.

Other Genetic Variant Databases

In addition to OMIM, PubMed, and the WS-HSCR Registry, there are other databases and resources available for studying variants in the EDN3 gene. These include genetic testing laboratories that offer specific EDN3 gene testing, clinical databases maintained by health institutions, and curated databases focusing on neural crest-related genes and disorders.

Researchers and clinicians interested in studying the EDN3 gene and its variants should consult these databases and resources for comprehensive information on the genetic changes, associated diseases, and available testing options. These resources play a crucial role in advancing our understanding of the EDN3 gene and its role in Waardenburg syndrome, Hirschsprung disease, and other related conditions.

References

Hirschsprung Disease and Neural Crest Development:

EDN3 and EDNRB Interaction

. Retrieved from

https://pubmed.ncbi.nlm.nih.gov/10068611/
Essential Waardenburg Syndrome due to EDN3 mutation and Waardenburg-Hirschsprung Syndrome: overview.

(2014). Retrieved from

https://pubmed.ncbi.nlm.nih.gov/24860855/
GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington,

Seattle.

1993-2021. Available at

https://www.genetests.org/
OMIM: Online Mendelian Inheritance in Man (database online). Copyright John Hopkins University, Baltimore,

MD.

1966-2021. Available at

https://omim.org/
The Endothelin-3/EDNRB Signaling Pathway: A Pleiotropic Pathway That Modulates Development From the Neural

Crest to the Central Nervous System. Retrieved from

https://pubmed.ncbi.nlm.nih.gov/31705172/
EDN3 gene – Genetics Home Reference – NIH. Retrieved from

https://ghr.nlm.nih.gov/gene/EDN3
Waardenburg Syndrome – a Genetic Disorder Causing Deafness and Pigmentary Changes. Retrieved from

https://pubmed.ncbi.nlm.nih.gov/27305803/
EDN-3 gene – ScienceDirect Topics. Retrieved from

https://www.sciencedirect.com/topics/neuroscience/edn3-gene