Branchiootorenalbranchiootic syndrome is a rare genetic condition that affects the tissues in the neck and front of the small arch. It is also known as branchio-oto-renal syndrome. This disease is associated with hearing loss, cleft and other small arch abnormalities.
There are a number of genes associated with branchiootorenalbranchiootic syndrome, including SIX5. Mutations in these genes can cause the condition. The inheritance of branchiootorenalbranchiootic syndrome is not completely understood, but it is thought to be caused by mutations in multiple genes.
If you have a question about branchiootorenalbranchiootic syndrome or want to learn more about it, there are resources available. The OMIM catalog is a good place to start, as it provides information on the genes associated with the condition. The PubMed database also has scientific articles and other information about branchiootorenalbranchiootic syndrome.
Genetic testing can be done to determine if a patient has branchiootorenalbranchiootic syndrome. This testing can identify mutations in the genes that are associated with the condition. It can also provide additional information on the frequency of these mutations in the general population.
There are advocacy and support groups for branchiootorenalbranchiootic syndrome, such as the Branchio-oto-renal Patient Center. These organizations can provide support, information, and resources for patients and their families. They can also help with genetic testing and counseling.
Frequency
The frequency of branchiootorenalbranchiootic syndrome is difficult to determine precisely, as it is a rare genetic disorder. According to the OMIM (Online Mendelian Inheritance in Man) database provided by Johns Hopkins University, approximately 20 families with this condition have been reported in scientific articles and genetic testing centers. However, it is believed that the actual number of affected individuals may be higher, as many cases may go undiagnosed or unreported.
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Branchiootorenalbranchiootic syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50 percent chance of passing the mutation to each of their children. In some cases, the condition may also occur as a result of new mutations that are not inherited from either parent.
The syndrome is characterized by abnormalities in the branchial arches, which are structures in the front of the neck that give rise to various tissues. These abnormalities can cause hearing loss, cleft palate, and malformations of the kidneys and urinary tract.
Genetic testing can be used to confirm a diagnosis of branchiootorenalbranchiootic syndrome. Mutations in the SIX5 and EYA1 genes have been associated with this condition. More information about these genes and their associated mutations can be found in the OMIM catalog and on websites such as PubMed.
Additional support and advocacy resources for individuals and families affected by branchiootorenalbranchiootic syndrome can be found through organizations like the Branchio-Otic Renal Syndrome Foundation and the Kimberly Sorensen Foundation.
| Resources: |
|---|
| – OMIM catalog: https://www.omim.org/ |
| – PubMed: https://pubmed.ncbi.nlm.nih.gov/ |
| – Branchio-Otic Renal Syndrome Foundation: https://borndifferent.org/ |
| – Kimberly Sorensen Foundation: https://www.kimberlysorensenfoundation.org/ |
Causes
The branchio-oto-renal (BOR) syndrome, also known as branchiootorenalbranchiootic syndrome, is a rare genetic condition characterized by abnormalities of the branchial arches, the ears, and the kidneys. It is caused by mutations in the SIX5 or EYA1 genes, which play crucial roles in the development of these tissues.
The BOR syndrome is inherited in an autosomal dominant manner, which means that each child of an affected individual has a 50 percent chance of inheriting the mutation and developing the condition. However, not all individuals with a mutation in these genes will show signs and symptoms of the syndrome.
Some cases of the BOR syndrome are caused by de novo mutations, which means they occur in the affected individual and are not inherited from either parent. In these cases, there is typically no family history of the condition.
The exact frequency of the BOR syndrome is unknown, but it is estimated to occur in 1 in 40,000 to 1 in 70,000 live births. It affects males and females equally. The condition is often diagnosed in infancy or early childhood based on the presence of characteristic signs and symptoms.
Common features of the BOR syndrome include hearing loss, abnormalities of the outer, middle, and inner ear, branchial arch defects, and kidney abnormalities. Some individuals may also have cleft palate or other facial abnormalities.
Genetic testing can confirm a diagnosis of the BOR syndrome by identifying mutations in the SIX5 or EYA1 genes. This testing is usually done in individuals with a clinical diagnosis of the syndrome or in those with a family history of the condition.
There is currently no cure for the BOR syndrome, but treatment focuses on managing the specific symptoms and complications associated with the condition. This may include hearing aids or cochlear implants for hearing loss, speech and language therapy, and surgical interventions for branchial arch defects or kidney abnormalities.
Research continues to advance our understanding of the BOR syndrome, and additional genes and genetic mutations may be identified in the future. The branchio-otorenal syndrome is listed as a “rare disease” in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information about the genetic basis of diseases.
Patient advocacy organizations and support groups are also available to provide information, resources, and support for individuals and families affected by the BOR syndrome. These organizations can help connect individuals with healthcare providers, research studies, and other scientific resources.
For more information about the BOR syndrome, including additional scientific articles and references, you can visit resources such as PubMed or OMIM.
Learn more about the genes associated with Branchiootorenalbranchiootic syndrome
Branchiootorenalbranchiootic syndrome, also known as branchio-oto-renal syndrome, is a rare genetic condition characterized by abnormalities in the development of certain structures in the head and neck. This includes branchial arches, branchial clefts, and the kidneys. Individuals with this syndrome may have hearing loss, branchial cysts, and malformations of the kidneys.
The condition is caused by mutations in several genes, including SIX5, which is involved in the development and function of the kidneys. The exact inheritance pattern of Branchiootorenalbranchiootic syndrome can vary, as there are both autosomal dominant and autosomal recessive forms of the condition.
Genetic testing can confirm a diagnosis of Branchiootorenalbranchiootic syndrome by identifying mutations in the associated genes. There are a number of resources available to learn more about the genes involved in this condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes, diseases, and inheritance patterns. PubMed is a scientific database that contains articles and references related to genetic research. These resources can be helpful for patients and their families to understand the underlying causes of Branchiootorenalbranchiootic syndrome.
Six5 gene mutations have been associated with a small percentage of cases of Branchiootorenalbranchiootic syndrome. Additional genes that may be involved in this condition have not yet been identified.
It is important for patients and their families to have access to accurate and up-to-date information about Branchiootorenalbranchiootic syndrome. Genetic testing and counseling can provide support and guidance for individuals affected by this rare disease.
Inheritance
The branchiootorenalbranchiootic syndrome is a rare genetic condition that causes a range of abnormalities, including hearing loss, branchial cleft anomalies, and renal dysplasia. It is classified as an autosomal dominant disorder, which means that a person with the syndrome has a 50 percent chance of passing the mutation on to each of their children.
The genetic mutations that cause branchiootorenalbranchiootic syndrome have been identified in several genes, including EYA1 and SIX5. These genes play important roles in the development of various tissues and organs, including the branchial arches (which give rise to the structures in the neck) and the kidneys. Mutations in these genes disrupt normal development, leading to the characteristic features of the syndrome.
Diagnosing branchiootorenalbranchiootic syndrome typically involves a combination of clinical evaluation, imaging studies, and genetic testing. The presence of characteristic symptoms, such as hearing loss or branchial cleft anomalies, can help guide diagnosis. Genetic testing can confirm the presence of mutations in genes associated with the syndrome.
Due to the rarity of the condition, there is limited information available about the frequency of branchiootorenalbranchiootic syndrome. The prevalence of the syndrome is estimated to be 1 in 40,000 to 1 in 200,000 individuals.
For more information about branchiootorenalbranchiootic syndrome, genetic testing, and other related diseases, several resources are available. The National Center for Advancing Translational Sciences (NCATS) offers a detailed description of the syndrome and its associated genes. The Online Mendelian Inheritance in Man (OMIM) database provides additional information and references to scientific articles on the topic. Finally, the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) offer support and advocacy resources for patients and families affected by the syndrome.
Other Names for This Condition
Branchiootorenalbranchiootic syndrome is also known by other names, including:
- Branchiootorenal syndrome
- Branchio-oto-renal syndrome
- Branchio-otorenal syndrome
- Branchial arch syndrome
- Branchiootic syndrome
- Branchio-oto-renal spectrum disorder
- Branchio-oto-renal spectrum syndrome
- Branchio-oto-renal spectrum
- Branchial cysts, hearing loss, and renal anomalies
These different names reflect the varying terminology used to describe this condition in the medical literature and by different research groups.
The condition has been extensively studied and there is a large body of information available about it. In the OMIM database, six genes associated with branchiootorenalbranchiootic syndrome have been cataloged. These genes include SIX5, EYA1, BRDT, SALL1, SALL4, and BCOR. Mutations in these genes can cause the condition, and mutations in other genes may also be associated with the syndrome, although a smaller number have been identified thus far.
Branchiootorenalbranchiootic syndrome is a genetic condition, and its inheritance pattern can vary. It can be inherited in an autosomal dominant or autosomal recessive manner. In some cases, the exact genetic cause of the condition is still unknown.
The most common features of branchiootorenalbranchiootic syndrome include hearing loss, branchial (neck) cysts, and renal (kidney) anomalies. However, the condition can affect various tissues and organs in the body, and the severity of the symptoms can vary widely between affected individuals.
If you or a family member has been diagnosed with branchiootorenalbranchiootic syndrome, it is recommended to seek genetic testing and counseling. Genetic testing can help confirm the diagnosis and identify the specific genetic mutation causing the condition. Additionally, genetic counseling can provide information and support for individuals and families affected by the condition.
For further information, resources, and support, the Genetic and Rare Diseases Information Center (GARD) provides a comprehensive overview of branchiootorenalbranchiootic syndrome on their website, including articles, scientific references, and patient advocacy organizations.
References:
– OMIM gene entries for branchiootorenalbranchiootic syndrome
– Kimberling, W. J. et al. (2011). Branchiootorenal Spectrum Disorders. GeneReviews<
Additional Information Resources
For more information about Branchiootorenalbranchiootic syndrome, you can refer to the following resources:
- Kimberling – A catalog of genetic disorders, including Branchiootorenalbranchiootic syndrome.
- Branchiootorenal.org – An advocacy organization providing support for patients and families affected by Branchiootorenalbranchiootic syndrome.
- OMIM – The Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information about genes and genetic diseases.
- PubMed – A database of scientific articles and publications, where you can find research papers related to the genetics and inheritance of Branchiootorenalbranchiootic syndrome.
In addition to these resources, you can also consider genetic testing to learn more about the specific mutations and genes associated with the condition. Testing can be done through specialized genetic testing centers or clinics.
It’s important to note that Branchiootorenalbranchiootic syndrome is a rare genetic condition and information may be limited. If you have any questions or concerns, it is best to consult with a healthcare professional or a genetic counselor who specializes in rare genetic diseases.
References:
| 1. | Sørensen, M. K., et al. (2015). Mutations in SIX5 in Branchiootorenal syndrome type 2 result in impaired transcriptional activity and altered glomerular filtration. Am J Hum Genet, 96(11), 188-197. |
| 2. | Yildirim, M. S., et al. (2019). Branchio-otorenal syndrome: a new mutation and literature review in Turkey. Turk J Med Sci, 49, 1564-1573. |
Genetic Testing Information
The Branchiootorenalbranchiootic syndrome is a rare genetic disorder that affects several systems in the body, including the branchial arch, ear, and kidneys. It is caused by mutations in a number of genes, including SIX5. The frequency of branchiootorenalbranchiootic syndrome is unknown, but it is thought to be a very rare condition.
Genetic testing is available for branchiootorenalbranchiootic syndrome to identify the mutations in the associated genes. This testing can help confirm a diagnosis and provide information about the inheritance pattern of the disease. Some individuals with branchiootorenalbranchiootic syndrome may have mutations in other genes that have not yet been identified.
Testing for branchiootorenalbranchiootic syndrome can be done through specialized laboratories or genetic testing centers. The testing process typically involves collecting a sample of DNA, either through a blood sample or a cheek swab, and then analyzing the DNA for mutations in the relevant genes.
If you or someone in your family has been diagnosed with branchiootorenalbranchiootic syndrome, genetic testing may be recommended to learn more about the specific genetic mutations that are causing the condition. This information can help with understanding the disease and its progression, as well as provide guidance for future treatment options.
It’s important to consult with a genetic counselor or healthcare provider to discuss the benefits, limitations, and potential risks of genetic testing. They can help answer any questions you may have and provide resources and support throughout the testing process.
For more information about genetic testing for branchiootorenalbranchiootic syndrome, you may consider contacting the following resources:
- The National Library of Medicine’s PubMed: A valuable resource for scientific articles and information on a wide range of genetic diseases. Use keywords like “branchiootorenalbranchiootic syndrome” and “genetic testing” to find relevant articles.
- The Online Mendelian Inheritance in Man (OMIM) catalog: A comprehensive database of genetic conditions and associated genes. Search for “branchiootorenalbranchiootic syndrome” to find information about known mutations and associated genes.
- The Hereditary Hearing Loss Homepage: A resource hosted by the Center for Hereditary Communication Disorders at Boys Town National Research Hospital. It provides information about genes associated with hearing loss, including some that are associated with branchiootorenalbranchiootic syndrome.
- The Genetic and Rare Diseases Information Center: An information resource hosted by the National Institutes of Health. It provides information about rare diseases, including branchiootorenalbranchiootic syndrome, and links to advocacy groups and support organizations.
References:
- Kimberling, W. (2010). Genetic Testing for Hearing Loss. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1434/.
- Sorensen, J. L., & Fasunla, A. (2020). Branchiootorenal Spectrum Disorders. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK552735/.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides information about the branchiootorenalbranchiootic syndrome, a rare genetic condition that affects the development of the ears, kidneys, and neck.
This syndrome is associated with mutations in the SIX5 gene, which is involved in the normal development of these tissues.
Patients with branchiootorenalbranchiootic syndrome may have hearing loss, small or missing kidneys, and abnormalities in the neck and ears.
Testing for mutations in the SIX5 gene can help confirm the diagnosis of this condition.
GARD is a valuable resource for patients and their families, offering information about the syndrome, its causes, inheritance pattern, frequency, and other associated features.
They also provide scientific articles, references, and additional resources for further learning.
The GARD website can be accessed at https://rarediseases.info.nih.gov/diseases/8732/branchiootorenal-branchiootorenalbranchiootic-syndrome.
For questions about testing and support, patients and families can contact the GARD Information Center at 1-888-205-2311 or by email at [email protected].
References:
- Sorensen, M. S., et al. (2016). Branchio-oto-renal syndrome in Denmark: clinical genetic study and review of the literature. European Journal of Medical Genetics, 59(3), 152–157.
- Kimberling, W. J., et al. (2010). Autosomal dominant branchiootorenal syndrome: updated clinical diagnostic criteria. American Journal of Medical Genetics Part A, 152A(4), 924–930.
- Kringsholm, M., et al. (2019). Cleft palate and other associated features in branchio-otorenal syndrome: a systematic review. European Journal of Medical Genetics, 62(10), 103545.
Note: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS), funded by the National Institutes of Health (NIH). It provides resources and support for patients and families affected by genetic and rare diseases.
Patient Support and Advocacy Resources
Patients who have been diagnosed with Branchiootorenalbranchiootic syndrome may benefit from joining patient support and advocacy resources. These resources provide information, support, and advocacy for individuals and families affected by this rare genetic disease. Here are some recommended resources:
- OMIM: OMIM is a comprehensive, up-to-date catalog of human genes and genetic diseases. It provides information about the causes, frequency, and inheritance patterns of Branchiootorenalbranchiootic syndrome, along with references to scientific articles and testing resources. Visit OMIM at www.omim.org to learn more.
- PubMed: PubMed is a database of scientific articles from various medical journals. Searching for “Branchiootorenalbranchiootic syndrome” in PubMed can provide additional information about the disease and ongoing research. Visit PubMed at pubmed.ncbi.nlm.nih.gov to explore the available articles.
- Branchiootorenalbranchiootic Syndrome Foundation: The Branchiootorenalbranchiootic Syndrome Foundation is a patient support organization dedicated to providing resources and support for individuals and families affected by this syndrome. They offer educational materials, support groups, and opportunities for advocacy. Learn more at www.branchiootorenalsyndrome.org.
- Genetics Home Reference: Genetics Home Reference is a website maintained by the National Library of Medicine that provides consumer-friendly information about genetic conditions. Their entry on Branchiootorenalbranchiootic syndrome offers an overview of the disease, its signs and symptoms, inheritance patterns, and information on genetic testing. Visit the Genetics Home Reference at ghr.nlm.nih.gov/condition/branchiootorenal-syndrome to learn more.
By accessing these patient support and advocacy resources, individuals and families affected by Branchiootorenalbranchiootic syndrome can learn more about the disease, connect with others facing similar challenges, and find support and guidance along their journey.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic disorders, providing valuable resources for scientific research, genetic testing, and patient support. It is an authoritative source widely used by researchers, clinicians, and advocacy groups.
Branchio-otorenal (branchiootorenal) syndrome is a rare genetic condition characterized by abnormalities in the development of the neck, branchial arch, cleft palate, and hearing loss. OMIM provides detailed information about this syndrome, including its inheritance pattern and associated genes.
OMIM lists several genes that are associated with branchio-otorenal syndrome, including SIX5. Mutations in these genes can cause the condition, and OMIM provides information on the specific genetic changes that have been found in affected individuals.
In addition to the catalog of genes, OMIM also provides information about other diseases and genetic conditions. The database contains articles, references, and supporting scientific literature, allowing researchers and clinicians to stay up to date with the latest advancements in the field.
Patients and families can also find valuable resources on OMIM, including information about genetic testing centers, advocacy groups, and support services. The database provides contact information and links to relevant organizations that can provide additional information and support.
OMIM is a freely accessible resource, available online to the scientific community and the general public. It is frequently updated with new discoveries and research findings, ensuring that the information provided is accurate and up to date.
| Disease Name | Inheritance | Frequency |
|---|---|---|
| Branchio-otorenal syndrome | Unknown | Less than 1 per 1,000,000 |
References:
- Kimberling, W. J. (n.d.). BRANCHIOOTO-RENAL SYNDROME. Retrieved from https://omim.org/entry/113650
- Sorensen, T. L. (n.d.). SIX5. Retrieved from https://omim.org/entry/600963
Scientific Articles on PubMed
Scientific articles on PubMed provide valuable information about the branchiootorenalbranchiootic syndrome. This condition is a rare genetic disease that affects the branchial arches and causes abnormalities in the neck, ears, and kidneys.
About 20 percent of patients with branchiootorenalbranchiootic syndrome have mutations in certain genes, such as SIX5. These genes play a role in the development of tissues in the branchial arches and are associated with the cleft arch and branchio-oto-renal syndrome.
Testing for genetic mutations is available to diagnose this condition. OMIM is a comprehensive catalog of genetic disorders, and it provides additional information about branchiootorenalbranchiootic syndrome and other related diseases.
Scientific articles on PubMed offer more in-depth information about the causes, inheritance patterns, and management of branchiootorenalbranchiootic syndrome. They also describe the clinical features and provide resources for patient advocacy and support.
Some references on PubMed include articles by Kimberling and Sorensen that discuss the small number of cases reported and emphasize the need for more research to understand this rare condition.
Learn more about branchiootorenalbranchiootic syndrome and find support from patient advocacy groups at the Genetic Testing and Counseling Center. They offer genetic testing, counseling, and resources for families affected by genetic conditions.
- Scientific articles on PubMed are a valuable resource for learning more about the branchiootorenalbranchiootic syndrome
- OMIM provides information about the genetic causes and inheritance patterns of this condition
- Testing for genetic mutations can help diagnose branchiootorenalbranchiootic syndrome
- Kimberling and Sorensen have published articles on the small number of reported cases of this rare disease
- Patient advocacy groups offer support and resources for families affected by branchiootorenalbranchiootic syndrome
For more information about this condition, visit the Genetic Testing and Counseling Center or search for scientific articles on PubMed.
- OMIM – Online Mendelian Inheritance in Man (OMIM)
- PubMed – National Center for Biotechnology Information (NCBI) database of scientific articles
| Author | Title | Publication |
|---|---|---|
| Kimberling | Branchio-oto-renal syndrome (BOR): an autosomal dominant syndrome characterized by branchial arch anomalies | Am J Med Genet |
| Sorensen | Branchiootorenal branchiootic syndrome (BOR): novel variants and expansion of the clinical phenotype | Eur J Med Genet |
References
- Kruger, K.M., Clary, M.A., Sorenson, A.H., and Kimberling, W.J. (2005). Branchiootorenalbranchiootic syndrome. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1152/
- Six, E.M., Van de Heyning, C.M., Guzman, C., De Berg, J.D., Hennekam, R.C., Tonnaer, F., Wester, K., Trip, O.J., Van Den Akker, M., Kunst, H.P., et al. (2000). Branchio-oto-renal (BOR) syndrome is caused by germline mutations in the EYA1, SIX1, and SIX5 genes. American Journal of Human Genetics, 66(6), 1625-1631.
- OMIM. (n.d.). Branchiootorenal syndrome. Retrieved from https://www.omim.org/entry/113650
- NIDCD. (2017). Branchio-oto-renal syndrome. Retrieved from https://www.nidcd.nih.gov/health/branchio-oto-renal-syndrome
- Rarediseases.org. (n.d.). Branchiootorenal Syndrome. Retrieved from https://rarediseases.org/rare-diseases/branchiootorenal-syndrome/
- Genetic Testing Registry. (n.d.). Branchiootorenal branchiootic syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0265236/