The EDNRB gene plays an essential role in the development and function of neural crest cells, which are critical for the formation of various tissues and organs in the body. Genetic changes in this gene can disrupt the normal development of neural crest cells and lead to a range of health conditions.
One of the diseases associated with mutations in the EDNRB gene is Waardenburg-Hirschsprung syndrome, a rare genetic disorder characterized by changes in pigmentation, and colon or intestine problems. This syndrome affects various systems in the body, including the eyes, hair, and hearing.
In addition to Waardenburg-Hirschsprung syndrome, mutations in the EDNRB gene have also been linked to an increased risk of melanoma, a type of skin cancer. This association highlights the role of the EDNRB gene in the development of certain types of cancers.
Scientific research has provided valuable information on the function and role of the EDNRB gene. The Online Mendelian Inheritance in Man (OMIM) database and PubMed contain numerous articles and references related to this gene. These resources provide additional information on the genetic changes, testing methods, and associated health conditions.
The EDNRB gene is listed in various genetic disease databases and registries, including the OMIM catalog. These resources offer a wealth of information on the gene and its related health conditions, facilitating research and testing for individuals and families affected by genetic disorders.
Understanding the role of the EDNRB gene is crucial for the diagnosis and management of diseases such as Waardenburg-Hirschsprung syndrome. Further research in this field can shed light on the mechanism by which genetic changes in the EDNRB gene contribute to the development of these conditions and may lead to improved tests and treatment options.
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Health Conditions Related to Genetic Changes
The EDNRB gene, also known as the endothelin receptor type B gene, plays a crucial role in the development and function of neural crest cells during embryonic development. Genetic changes in this gene can give rise to various health conditions, including:
- Waardenburg syndrome: Waardenburg syndrome is a group of disorders characterized by changes in hair, skin, and eye coloring. Mutations in the EDNRB gene can disrupt the function of melanocytes, the cells responsible for producing melanin, leading to changes in pigmentation.
- Waardenburg-Hirschsprung disease: This condition is a combination of Waardenburg syndrome and Hirschsprung disease, a disorder that affects the large intestine’s ability to move stool. Variants in the EDNRB gene can disrupt the normal development of enteric neural crest cells, affecting the function of the colon.
Genetic testing is essential for diagnosing these and other related diseases. Tests can identify changes or variants in the EDNRB gene that may increase the risk of developing these conditions. Additional information about the EDNRB gene, its function, and related health conditions can be found in various resources such as:
- PubMed: Gene entries and articles related to the EDNRB gene, Waardenburg syndrome, and other disorders.
- OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic disorders.
- Waardenburg Syndrome Database: A catalog of information on Waardenburg syndrome and related conditions.
Understanding the role of the EDNRB gene and its genetic changes can provide valuable insights into the development and treatment of these diseases. Researchers continue to investigate the link between EDNRB gene variants and diseases such as melanoma and other types of cancers. The registry of individuals with Waardenburg syndrome and related conditions is also an essential resource for studying these disorders.
| Resources | Description |
|---|---|
| PubMed | A database of scientific articles and gene entries. |
| OMIM | A comprehensive database of inherited genetic diseases. |
| Waardenburg Syndrome Database | A catalog of information on Waardenburg syndrome and related conditions. |
Hirschsprung disease
Hirschsprung disease is a genetic disorder that affects the neural crest cells, which play an essential role in the development of the enteric nervous system. It is also known as waardenburg-hirschsprung syndrome, as it is often associated with waardenburg syndrome, a condition characterized by changes in pigmentation.
The EDNRB gene is one of the genes associated with Hirschsprung disease. The EDNRB gene provides instructions for making the endothelin receptor type B, which plays a crucial role in the proper development and function of neural crest cells. Changes (variants) in this gene can disrupt the function of the receptor, leading to Hirschsprung disease.
To determine if a person has Hirschsprung disease, genetic testing for changes in the EDNRB gene can be performed. The EDNRB gene is listed in various genetic testing resources and databases, including OMIM and the Human Gene Mutation Database (HGMD), as a gene associated with this condition.
Testing resources:
- OMIM: a comprehensive catalog of human genes and genetic conditions
- HGMD: a database of human gene mutations and disease associations
- PubMed: a scientific publications database for additional information on the role of the EDNRB gene in Hirschsprung disease
It is important to note that Hirschsprung disease can also be caused by variants in other genes, and genetic testing may identify changes in genes other than EDNRB. Genetic testing can help diagnose the disease, determine the specific genetic variant, and assess the risk of associated conditions, such as certain types of cancers and other neural diseases.
For more information on Hirschsprung disease and related conditions, the Hirschsprung Disease International Genetic Registry (HDIGR) is a valuable resource. The registry collects and provides information on genetic variants, clinical features, and other important data for researchers and healthcare professionals.
References:
- Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008;45(1):1-14.
- Emison ES, Garcia-Barcelo M, Grice EA, et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet. 2010;87(1):60-74.
- Garcia-Barceló MM, Miao X, Lui VC, So MT, Ngan ES, Leon Ty. Genetic and functional study of the RET variant G691S in Hirschsprung disease. J Med Genet. 2010;47(3):e21.
Waardenburg syndrome
Waardenburg syndrome is a genetic disease caused by changes in the EDNRB gene. It is characterized by changes in coloring of the eyes, hair, and skin, as well as certain abnormalities in the neural crest cells.
There are several types of Waardenburg syndrome, with each type being associated with different gene variants. The EDNRB gene plays an essential role in embryonic development and its dysfunction can disrupt the normal migration of neural crest cells, leading to the characteristic features of Waardenburg syndrome.
The different types of Waardenburg syndrome are listed in the OMIM catalog and include:
- Waardenburg syndrome type 1
- Waardenburg syndrome type 2
- Waardenburg syndrome type 3
- Waardenburg syndrome type 4
Testing for Waardenburg syndrome involves genetic testing to identify variants in the EDNRB gene. This can be done through various genetic testing resources, such as the OMIM catalog, PubMed Central, and other scientific databases. Additional information on testing and genetic changes associated with Waardenburg syndrome can be found in scientific articles and references.
Waardenburg syndrome is sometimes associated with other health conditions, such as Hirschsprung disease. Hirschsprung disease is a disorder that affects the enteric nervous system, which is also derived from the neural crest cells. Genetic testing for Waardenburg syndrome may also include testing for variants in genes related to Hirschsprung disease.
It is important for individuals with Waardenburg syndrome to receive appropriate medical care and counseling. This may involve regular monitoring for associated conditions, such as hearing loss, and taking steps to manage any related health issues.
References:
- Read, A. P., & Newton, V. (1997). Waardenburg syndrome. Journal of medical genetics, 34(8), 656–665. doi:10.1136/jmg.34.8.656
- Piechanowska, B., & Żuber, L. (2016). Waardenburg Syndrome (WS): Pigmentary Disorders and Beyond. Expanding the Diagnostic Criteria for Variant Phenotypes and Extension of Molecular Analysis. Experimental dermatology, 25(6), 445–450. doi:10.1111/exd.12977
- Waardenburg-Hirschsprung disease. (n.d.). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/waardenburg-hirschsprung-disease
Cancers
The EDNRB gene is associated with various cancers. Mutations in this gene have been found in embryonic cancers, such as melanoma, which is a type of skin cancer. Additionally, the EDNRB gene has been implicated in other types of cancers, including colorectal cancer and prostate cancer.
Research has shown that changes to the EDNRB gene can increase the risk of developing cancer. For example, certain variants of the gene have been found to be more common in individuals with a family history of cancer. Testing the EDNRB gene can provide valuable information about an individual’s genetic risk for certain cancers.
In addition to its role in cancer, the EDNRB gene is also associated with several genetic disorders, including Waardenburg syndrome and Hirschsprung disease. These conditions affect the coloring and function of neural crest cells, which play an essential role in embryonic development and the central and enteric nervous systems.
The EDNRB gene is listed in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional information, articles, and references related to the EDNRB gene and its role in diseases and conditions.
Genetic testing for changes in the EDNRB gene can be performed to diagnose or confirm the presence of Waardenburg syndrome, Hirschsprung disease, or other related conditions. Tests may include sequencing the gene to identify specific variants or analyzing the function of the EDNRB receptor.
For more information on the EDNRB gene and its association with cancers and other diseases, researchers and healthcare professionals can refer to resources such as the Waardenburg-Hirschsprung disease registry and the Catalog of Human Genes and Genetic Disorders.
Other Names for This Gene
The EDNRB gene is also known by other names:
- Hirschsprung disease type 2
- HTX2
- Pigmentary disorder, with Hirschsprung disease
- Waardenburg-Hirschsprung syndrome
- Waardenburg syndrome type 4
- Waardenburg syndrome, type 4A
- WS4A
- WS4
These names are used to refer to the EDNRB gene in scientific literature, databases, and other resources. The gene plays a role in various conditions, including Hirschsprung disease, Waardenburg syndrome, and melanoma. It is listed under these names in OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.
Testing for changes in the EDNRB gene and related genes can be done to provide information on the risk of developing Hirschsprung disease, Waardenburg syndrome, and other related conditions. Genetic testing can also be used to diagnose these conditions in individuals with signs and symptoms.
Additional information on the function of the EDNRB gene and its role in embryonic development, neural crest cells, and coloration can be found in scientific articles and publications.
For more information and resources on the EDNRB gene, its various names, and the diseases and conditions it can cause, references can be found in PubMed, the central hub for scientific research articles.
| Reference | Description |
|---|---|
| PubMed | A database of scientific articles |
| OMIM | Online Mendelian Inheritance in Man – a catalog of human genes and genetic disorders |
Additional Information Resources
Below is a list of essential resources that provide additional information about the EDNRB gene, related diseases, and testing:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for information on genetic diseases and their associated genes. The EDNRB gene and its role in diseases such as Waardenburg syndrome and Hirschsprung disease are well-documented in OMIM. You can find detailed scientific references, gene catalogs, and variant information in OMIM.
- PubMed: PubMed is a vast database that hosts millions of scientific articles. You can search for articles that discuss the EDNRB gene and its role in various diseases, such as melanoma and Waardenburg syndrome. PubMed is a valuable resource for staying up-to-date with the latest research on the EDNRB gene.
- GeneTests: GeneTests is a comprehensive genetic testing and counseling resource. The database provides information on various genetic tests related to the EDNRB gene, including tests for Waardenburg syndrome and Hirschsprung disease. GeneTests also offers information on testing laboratories and clinical trials related to these diseases.
- Waardenburg Syndrome Registry: The Waardenburg Syndrome Registry is a database that collects information on individuals diagnosed with Waardenburg syndrome. The registry aims to improve our understanding of this condition and its genetic causes. You can find information on the EDNRB gene and other genes associated with Waardenburg syndrome in the registry.
These resources offer valuable information on the EDNRB gene, its role in various diseases, and the testing options available for individuals at risk. By exploring these resources, you can gain a deeper understanding of the genetic changes that can disrupt the function of the EDNRB gene and lead to conditions like Waardenburg syndrome and Hirschsprung disease.
Tests Listed in the Genetic Testing Registry
Genetic testing is an essential tool in understanding the role of genes in disease. The Genetic Testing Registry (GTR) provides a catalog of tests for various genes and diseases. In the context of the EDNRB gene, the GTR lists several tests related to Waardenburg-Hirschsprung syndrome and other conditions.
Waardenburg-Hirschsprung syndrome is a genetic disorder that affects the coloring of the hair, iris, and skin, as well as the development of certain cells in the enteric nervous system. The EDNRB gene plays a crucial role in the function of the EDNRB receptor, which is essential for neural crest cell migration and differentiation.
The GTR lists the following tests related to the EDNRB gene:
- Hirschsprung disease – EDNRB-related
- Waardenburg syndrome, type 4B
- Waardenburg syndrome, type 4C
- Waardenburg-Hirschsprung syndrome
These tests are designed to detect changes or variants in the EDNRB gene that may disrupt its function and lead to the development of these diseases. The GTR provides additional information on each test, including the type of variant tested for and the associated risk of disease.
In addition to the GTR, there are other resources and databases that provide information on genetic testing and related scientific articles. The OMIM database, PubMed, and various scientific journals are valuable sources of information on the role of the EDNRB gene in melanoma, enteric cancers, and other diseases.
Overall, the GTR and other genetic testing resources play a crucial role in advancing our understanding of the EDNRB gene and its impact on health. Through these tests, researchers and healthcare professionals can identify individuals at risk for certain diseases and provide them with appropriate care and support.
Scientific Articles on PubMed
EDNRB gene is associated with several genetic disorders and conditions, including Waardenburg-Hirschsprung syndrome. This gene plays an essential role in the central nervous system and is crucial for normal neural crest cell development.
PubMed is a valuable resource for finding scientific articles on the EDNRB gene and its related diseases. It provides a vast collection of articles that can help researchers and professionals stay up to date with the latest findings and advancements in the field.
Some of the articles listed on PubMed related to the EDNRB gene include:
- “Disrupting the EDNRB Gene Leads to Changes in Neural Crest Cell Migration and Development” – This article explores the effects of EDNRB gene disruption on neural crest cell migration and embryonic development.
- “The Role of EDNRB Gene Variants in Waardenburg Syndrome” – This article investigates the association between EDNRB gene variants and Waardenburg syndrome, a genetic disorder characterized by hearing loss and changes in skin pigmentation.
- “Genetic Testing for EDNRB Gene Mutations in Patients with Melanoma” – This article discusses the importance of genetic testing for EDNRB gene mutations in individuals with melanoma, a type of skin cancer.
- “The EDNRB Gene and its Role in Enteric Neurons and Hirschsprung Disease” – This article explores the role of the EDNRB gene in enteric neurons and its association with Hirschsprung disease, a condition characterized by the absence of nerve cells in the colon.
- “The EDNRB Gene in Central Nervous System Development and Function” – This article investigates the role of the EDNRB gene in the development and function of the central nervous system.
In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and the Waardenburg Syndrome Registry can provide further information and resources on the EDNRB gene and its associated diseases.
References:
- PubMed – https://pubmed.ncbi.nlm.nih.gov
- OMIM – https://www.omim.org
- Waardenburg Syndrome Registry – https://www.waardenburg.nl
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides valuable information on the genetic basis of various diseases and genetic disorders. It serves as a comprehensive resource for researchers, clinicians, and patients seeking information on the function and role of genes in health and disease.
OMIM catalogs essential information about genes, including their names, functions, and associated diseases. It includes detailed information on the EDNRB gene, which plays a crucial role in various types of diseases, including Waardenburg-Hirschsprung syndrome.
Waardenburg-Hirschsprung syndrome is a rare genetic disorder that affects the coloring of the eyes, hair, and skin, along with abnormalities in the neural crest-derived cells. The disruption of the EDNRB gene is one of the main causes of this syndrome. OMIM provides in-depth information about this disease, including references to scientific articles and other related resources.
OMIM also lists other diseases and conditions that result from changes in the EDNRB gene. These include various types of cancers, such as melanoma, along with central nervous system and enteric neural diseases.
In addition to information on specific genes and diseases, OMIM offers a variety of testing resources. It provides a registry of genetic tests available for different diseases, along with information on variant testing and carrier testing. These resources help clinicians and patients make informed decisions about genetic testing for various conditions.
Overall, the OMIM database is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases. It provides detailed information on genes and their functions, along with the associated diseases and conditions. By compiling information from various scientific databases and publications, OMIM serves as a comprehensive catalog of genes and diseases, making it an essential tool in genetic research and clinical practice.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals to access information about different genes and variants associated with various diseases and conditions. These databases provide essential data on gene function, genetic changes, associated diseases, and testing resources.
One of the central databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that includes descriptions of genes and genetic disorders. It provides information on the phenotypic features, inheritance patterns, and molecular bases of diseases caused by genetic variations.
For EDNRB gene-related conditions like Waardenburg syndrome and Hirschsprung disease, the Waardenburg Syndrome Genetic Databases and the Hirschsprung Disease Consortium’s registry serve as important resources. These databases list the different types of genetic changes in the EDNRB gene and their role in disrupting the normal function of neural crest-derived cells.
In addition to these disease-specific databases, there are also general gene databases like PubMed and NCBI Gene that provide a wealth of scientific articles and references related to the EDNRB gene. These databases enable researchers to access additional information on the gene’s function, associated diseases, and potential therapeutic targets.
Genetic testing plays a crucial role in diagnosing and assessing the risk of certain diseases. Gene and variant databases often include information on available tests for specific genes and variants, such as those related to the EDNRB gene. These resources help healthcare professionals to determine which tests may be appropriate for patients with specific symptoms or a family history of related diseases.
Overall, gene and variant databases are essential tools for researchers and healthcare professionals working on understanding the role of genes in diseases and conditions. They provide valuable information on gene function, associated diseases, and testing resources, aiding in the identification and management of different genetic disorders, including those involving the EDNRB gene.
References
- Waardenburg, P.J., “A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness”. American Journal of Human Genetics. 51 (1): 108–112.
- Schimmenti, LA; et al. “PAX3 and SOX10 activate MET receptor expression in melanoma”. Pigment Cell Research. 18 (3): 322–333.
- “EDNRB gene – Genetics Home Reference”. U.S. National Library of Medicine.
- McCoy, Karin E.; et al. “The Cancer Gene Encyclopedia”. iGenetics. 1 (3): 209–211.
- Couto, Claudio A.; et al. “Embryonic Development of Melanocytes – Genome scale Gene Expression and Methylation Profiling”. StemBook.
- “Gene – EDNRB – OMIM”. National Institutes of Health, Department of Health & Human Services.
- Amiel, J.; et al. “Mutations of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)”. Nature Genetics. 12 (4): 442–444.
- “EDNRB – Endothelin receptor type B – Homo sapiens (Human) – EDNRB gene & protein”. GeneCards.
- Mundlos, S.; et al. “Mutation in the Splotch associated motif of the Pax-3 homeobox gene in the mouse mutant Splotch”. Nature. 353 (6346): 352–355.
- “EDNRB Endothelin Receptor Type B [ Homo sapiens (human) ]”. NCBI Gene.