Deafness and myopia syndrome, also known as myopia-sensorineural deafness syndrome, is a rare genetic condition that affects a patient’s vision and hearing. It is described in the scientific literature and is cataloged in the Online Mendelian Inheritance in Man (OMIM) database. This syndrome is associated with a high frequency of myopia, a condition that causes nearsightedness.

Patients with deafness and myopia syndrome experience sensorineural deafness, which means that the hearing loss is caused by damage to the inner ear or the nerve pathways that transmit sound to the brain. The exact causes of this syndrome are still unknown, but research suggests that mutations in certain genes may play a role in its development.

In order to learn more about this rare condition, patients and their families can turn to advocacy organizations, such as the Deafness and Myopia Syndrome Center, for additional information and support. These organizations often provide resources, articles, and access to scientific publications through their online catalogs. Patients can also find information on genetic testing for this syndrome, which can help confirm the diagnosis.

Testing for deafness and myopia syndrome can be beneficial for patients and their families, as it can provide valuable information about the inheritance pattern and the risk of passing the condition on to future generations. Genetic testing can also help doctors determine the best course of treatment and management for patients with this syndrome.

For more information about deafness and myopia syndrome, patients and healthcare professionals can consult the OMIM database, PubMed articles, and other scientific references. These resources provide a wealth of information about the syndrome, including its symptoms, inheritance pattern, and associated genes.

Frequency

The Deafness and myopia syndrome is a rare genetic condition. According to OMIM (Online Mendelian Inheritance in Man), this syndrome has a high frequency of occurrence. It is estimated that about 1 in 60,000 individuals are affected by this syndrome. The syndrome is characterized by sensorineural hearing loss and myopia, a condition where the eyes are unable to focus properly on objects.

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There are very few diseases with a higher frequency of occurrence than the Deafness and myopia syndrome. As a result, it is considered a rare condition. Due to its rarity, there are limited resources available for testing and advocacy. However, there are specialized centers and genetic testing centers that can provide support and additional information about the syndrome.

The causes of the Deafness and myopia syndrome are still being researched. Some associated genes have been described, but the exact genetic basis of the syndrome is not fully understood. The length of the genes associated with this syndrome can vary, which makes genetic testing challenging.

For more information about the frequency and genetics of the Deafness and myopia syndrome, scientific articles can be found on PubMed. The PubMed database contains a catalog of articles related to this condition. Additionally, OMIM provides a comprehensive list of genes associated with the syndrome.

In conclusion, the Deafness and myopia syndrome is a rare condition with a high inheritance frequency. It is associated with sensorineural hearing loss and myopia. Further research and genetic testing are needed to fully understand the syndrome and provide support to affected individuals.

Causes

The causes of Deafness and Myopia Syndrome (also known as the myopia-sensorineural deafness syndrome) are genetic in nature. The syndrome is caused by mutations in the OPA1 gene, which is responsible for encoding a protein involved in the maintenance of mitochondrial function.

According to information from the Online Mendelian Inheritance in Man (OMIM) database, this condition has been described in scientific articles under different names, including “deafness and myopia syndrome”, “myopia-sensorineural deafness syndrome”, and “DOA +”.

The OPA1 gene mutations associated with this syndrome result in a high frequency of vision and hearing loss, with individuals experiencing progressive myopia and sensorineural deafness. The exact mechanisms by which these mutations lead to the specific symptoms of the syndrome are not fully understood.

Currently, there are rare genetic testing options available for individuals suspected of having Deafness and Myopia Syndrome. Genetic testing can provide additional information about the specific gene mutations causing the condition, which can be useful for patient advocacy and support.

For more information on genetic testing and inheritance patterns associated with Deafness and Myopia Syndrome, resources such as the National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center (GARD) and OMIM can provide further guidance.

References:

  1. GARD: Deafness and Myopia Syndrome. Retrieved from: https://rarediseases.info.nih.gov/diseases/127/opd-syndrome
  2. OMIM: Entry #125250 – Deafness and Myopia Syndrome. Retrieved from: https://www.omim.org/entry/125250
  3. Gil-Correia, I., et al. (2019). Deafness and Myopia Syndrome – A Clinical and Molecular Genetic Study of a Portuguese Cohort. Frontiers in Genetics, 10:42. doi: 10.3389/fgene.2019.00042

Learn more about the gene associated with Deafness and myopia syndrome

Deafness and myopia syndrome is a rare genetic condition characterized by sensorineural hearing loss and myopia (nearsightedness). The syndrome is caused by mutations in a specific gene, which plays a crucial role in the development and function of the inner ear and visual system.

See also  AGTR1 gene

Research has shown that the inheritance of Deafness and myopia syndrome is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent – to develop the condition. In some cases, individuals may be carriers of the mutated gene without showing any symptoms.

Patients with Deafness and myopia syndrome typically experience high-frequency hearing loss, which affects their ability to hear sounds in the higher range. This can have a significant impact on their overall communication and daily functioning.

Myopia, or nearsightedness, is a condition characterized by difficulty seeing objects in the distance. In individuals with Deafness and myopia syndrome, the degree of myopia can vary, but it is typically more severe compared to individuals without the syndrome.

Additional scientific information and support for individuals and families affected by Deafness and myopia syndrome can be found in various resources. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genes and genetic conditions.

The OMIM catalog includes articles on the gene associated with Deafness and myopia syndrome, as well as references to scientific articles and other resources for further reading. It can be a valuable tool for individuals seeking to learn more about the genetic causes, inheritance patterns, and potential management options for this condition.

In addition to OMIM, the National Center for Advancing Translational Sciences (NCATS) provides resources for rare diseases, including Deafness and myopia syndrome. The NCATS website offers information on ongoing research, clinical trials, and patient advocacy organizations that specialize in rare genetic conditions.

Genetic testing can confirm a diagnosis of Deafness and myopia syndrome and help to identify specific mutations in the associated gene. This testing can be done through specialized laboratories and may involve analyzing the patient’s DNA for known mutations or using newer techniques such as whole exome sequencing.

It is important for individuals with Deafness and myopia syndrome to seek medical advice and support from healthcare professionals experienced in diagnosing and managing this condition. These professionals can provide personalized guidance and recommendations based on the individual’s unique needs and circumstances.

Inheritance

The Deafness and Myopia Syndrome is a rare genetic condition, and its inheritance pattern is not yet fully understood. However, research has indicated that the syndrome follows an autosomal recessive inheritance pattern. This means that both copies of a specific gene must be mutated in order for an individual to be affected by the syndrome.

Several genes have been associated with the Deafness and Myopia Syndrome, including the Usher syndrome type 1B gene (MYO7A), the Usher syndrome type 2A gene (USH2A), and the Harmonin (USH1C) gene. These genes are involved in the development and function of the sensory cells in the inner ear and the retina.

High-throughput genetic testing methods, such as next-generation sequencing, can be used to identify mutations in these genes. Genetic testing can help confirm the diagnosis of the syndrome in a patient and provide information about the specific genes and mutations involved.

Advocacy organizations, such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD), provide additional resources and support for individuals and families affected by the Deafness and Myopia Syndrome.

Scientific articles and references about the syndrome can be found in PubMed, a database of biomedical literature. Searching for keywords like “Deafness and Myopia Syndrome,” “myopia-sensorineural deafness,” or the specific names of the associated genes can yield more information on the condition and its causes.

References and Resources
Resource Name Description
OMIM An online catalog of human genes and genetic disorders
PubMed A database of scientific articles and publications
GARD Genetic and Rare Diseases Information Center
NORD National Organization for Rare Disorders

Testing for the Deafness and Myopia Syndrome typically involves assessing the patient’s hearing and vision, as well as testing for mutations in the associated genes. The frequency of the syndrome is currently unknown due to its rarity and genetic heterogeneity. However, with more scientific research and advocacy support, we can learn more about this condition and provide support to those affected.

Other Names for This Condition

The scientific name for this condition is Deafness and Myopia Syndrome. It is also known by several other names:

  • Myopia-sensorineural deafness-high-frequency syndrome
  • Deafness and myopia with or without Singer anomalad syndrome
  • Deafness and myopia-sensorineural deafness, high-frequency, with or without situs inversus syndrome
  • GPR98-related syndrome
  • Usher syndrome type IIC

Patient advocacy groups and support networks may have additional names for this condition as well.

To learn more about the genes associated with this condition, you can check the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed articles. They provide more information on the inheritance patterns, genetic testing, and causes of this rare genetic condition.

Some rare genetic diseases share similar features with Deafness and Myopia Syndrome, such as Usher syndrome and Bardet-Biedl syndrome. If you are looking for resources on these conditions, you can find more information at the National Center for Advancing Translational Sciences (NCATS) and other advocacy and support organizations.

References:

  1. “Deafness and Myopia Syndrome.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome.
  2. “GPR98: Gene.” NCBI Gene Database, National Center for Biotechnology Information, www.ncbi.nlm.nih.gov/gene/84059.
  3. “OMIM Entry – # 614402 – DEAFNESS AND MYOPIA SYNDROME.” omim.org/entry/614402.
  4. “PubMed Central (PMC).” ncbi.nlm.nih.gov/pmc.

Additional Information Resources

For more information about the Deafness and Myopia Syndrome, including its causes, inheritance patterns, and associated genes, you can consult the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes associated with diseases. The page for the Deafness and Myopia Syndrome can be found here.
  • PubMed: PubMed is a scientific database that provides access to a vast collection of articles related to various medical conditions. Searching for “Deafness and Myopia Syndrome” on PubMed can help you find relevant research articles and case reports.
  • Rare Diseases Advocacy Center: The Rare Diseases Advocacy Center (RDAC) supports patients and families affected by rare diseases. They provide resources and support for individuals living with the Deafness and Myopia Syndrome. More information can be found on their website here.
See also  RNASEH2B gene

In addition to these resources, genetic testing and vision testing are essential for diagnosing and managing the Deafness and Myopia Syndrome. If you suspect that you or someone you know has this condition, it is recommended to seek medical advice and consult with a healthcare professional.

Genetic Testing Information

The Deafness and Myopia Syndrome is a rare genetic condition characterized by sensorineural hearing loss and high myopia. It is also known as the Myopia-Sensorineural Deafness Syndrome.

This syndrome is associated with mutations in specific genes. Currently, there are two genes that have been identified to cause this condition:

  • MYO7A
  • USH2A

These genes play a crucial role in the development and maintenance of both hearing and vision. Mutations in these genes disrupt the normal functioning of sensory cells in the inner ear and the eyes, resulting in the characteristic symptoms of the syndrome.

To diagnose the Deafness and Myopia Syndrome, genetic testing is often conducted. This testing involves analyzing the patient’s DNA to identify mutations or changes in the genes associated with this condition.

Genetic testing not only helps confirm the diagnosis, but it also provides valuable information on the inheritance pattern and potential risks for family members. It can help individuals learn more about the causes of their condition and understand the likelihood of passing it on to future generations.

There are various resources available to support patients and their families, including advocacy centers, scientific articles, and genetic testing resources. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are two valuable sources of information, providing additional references and articles on the Deafness and Myopia Syndrome.

It is important to note that this syndrome is rare, and the frequency of its occurrence is not well established. However, with more scientific research and testing, additional genes may be discovered to be associated with the condition.

Gene Description
MYO7A A gene responsible for encoding a protein crucial for hair cell function in the inner ear and for vision.
USH2A A gene associated with Usher syndrome, a condition characterized by combined hearing loss and visual impairments.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on various genetic conditions and rare diseases. It provides comprehensive information on these conditions, including the Deafness and Myopia Syndrome.

GARD is a part of the National Center for Advancing Translational Sciences (NCATS) and is supported by the Office of Rare Diseases Research (ORDR) at the National Institutes of Health (NIH).

For those interested in the genetic aspects of Deafness and Myopia Syndrome, GARD provides resources such as the Online Mendelian Inheritance in Man (OMIM) database. This database contains detailed information about the genes associated with this condition, as well as other related genes, their functions, and inheritance patterns.

Additionally, GARD provides articles, references, and scientific literature on Deafness and Myopia Syndrome from various scientific journals, including PubMed. These resources can help individuals learn more about the syndrome, its causes, associated diseases, and available testing options.

GARD also offers information on support and advocacy groups for individuals and families affected by Deafness and Myopia Syndrome. These groups provide support, resources, and information about available treatments and management options.

The Genetic and Rare Diseases Information Center is a valuable resource for individuals looking for in-depth information about Deafness and Myopia Syndrome and other rare genetic conditions. It offers a wealth of information and support for patients, families, healthcare professionals, and researchers.

Patient Support and Advocacy Resources

Deafness and myopia syndrome is a rare genetic condition associated with high-frequency hearing loss and myopia. This syndrome is caused by mutations in specific genes that are involved in the development and function of the inner ear and the eyes.

If you or a loved one have been diagnosed with this rare condition, it is important to learn more about the causes, symptoms, and available resources for support and advocacy. Here are some patient support and advocacy resources that can provide additional information and assistance:

  • National Organization for Rare Disorders (NORD) – NORD is dedicated to providing support and resources for individuals with rare diseases and their families. They have a dedicated page on deafness and myopia syndrome, which includes information about the condition, its causes, and available support services.
  • Genetic and Rare Diseases (GARD) Information Center – GARD provides information about rare genetic diseases, including deafness and myopia syndrome. They offer a comprehensive overview of the condition, as well as resources for additional learning and support.
  • Online Mendelian Inheritance in Man (OMIM) catalog – OMIM is a comprehensive database of human genes and genetic disorders. They provide detailed information about deafness and myopia syndrome, including the associated genes and inheritance patterns.
  • PubMed – PubMed is a scientific database that provides access to a vast collection of medical research articles. By searching for “deafness and myopia syndrome” on PubMed, you can find more scientific articles and studies about this condition.
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These resources can help you better understand the genetics and inheritance patterns of deafness and myopia syndrome, as well as provide information about available support services and advocacy organizations. Remember to consult with healthcare professionals for personalized advice and guidance regarding testing, vision care, and treatment options.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for scientists, healthcare professionals, and patients seeking information about rare genetic conditions. This article explores the genes and diseases associated with Deafness and Myopia Syndrome (DMS) found in the OMIM database.

Deafness and Myopia Syndrome is a rare genetic condition characterized by sensorineural hearing loss and high myopia. It is caused by mutations in the GPR98 gene, which plays a role in the development of the inner ear and vision. The inheritance pattern of this syndrome is autosomal recessive.

The OMIM database provides detailed information about the genetic causes, clinical features, and inheritance patterns of various diseases, including DMS. It also offers resources for genetic testing, advocacy groups, and additional articles and references related to DMS.

Genetic testing can help confirm the diagnosis and provide valuable information for patients and their families. The OMIM database supports healthcare professionals in their understanding of DMS and its associated genes, helping them provide more accurate diagnoses and targeted treatments.

Patients and their families can also benefit from the information provided in the OMIM database. They can learn about the underlying genetic causes of DMS, the frequency of the condition, and potential support and advocacy resources.

The OMIM database is a valuable scientific resource for researchers and clinicians. It contains scientific articles, references, and pubmed links to further investigate the genes and diseases associated with DMS. It helps scientists broaden their knowledge and explore potential research avenues to better understand and treat this rare condition.

In conclusion, the OMIM database catalog of genes and diseases provides valuable information about Deafness and Myopia Syndrome. It offers a comprehensive overview of the associated genes, inheritance patterns, clinical features, and available resources for genetic testing and patient support. Scientists, healthcare professionals, and patients can rely on this extensive database to learn more about this rare condition and work towards improving patient care and outcomes.

Scientific Articles on PubMed

Deafness and myopia syndrome is a rare genetic condition that affects both hearing and vision. It is caused by mutations in specific genes.

More than a dozen genes have been associated with this syndrome, and researchers continue to discover new genes involved in its inheritance. These genes have been identified through scientific articles published on PubMed, a trusted resource for genetic information.

  • The myopia-sensorineural deafness syndrome is a rare disorder described from the National Institutes of Health Genetic Testing Registry. It is associated with high myopia and sensorineural hearing loss. Molecular genetic testing is available to confirm the diagnosis.
  • Additional articles on PubMed provide more information about the specific genes involved in this syndrome. These articles discuss the length of the genes, their function, and their association with myopia and hearing loss.
  • The Online Mendelian Inheritance in Man (OMIM) catalog lists the genes associated with this syndrome. It serves as a valuable resource for researchers and clinicians seeking information on rare genetic diseases.

Advocacy organizations and hearing and vision centers also provide support and resources for individuals with deafness and myopia syndrome. These organizations help patients learn about the causes of the syndrome, genetic testing options, and available treatments.

The frequency of this syndrome is relatively rare, but with advancements in genetic testing and research, more cases are being diagnosed. The scientific articles on PubMed contribute to our understanding of the syndrome and provide valuable information for healthcare professionals and researchers.

References:

  1. National Institutes of Health Genetic Testing Registry: Myopia-sensorineural deafness syndrome
  2. PubMed: Articles on genes associated with deafness and myopia syndrome
  3. Online Mendelian Inheritance in Man (OMIM) catalog

References

The Deafness and Myopia Syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. It is characterized by sensorineural hearing loss and high myopia.

Scientific articles describing the inheritance of this condition can be found in the following references:

  • GeneReviews: Deafness and Myopia Syndrome
  • OMIM: Deafness and Myopia Syndrome
  • PubMed: Deafness and Myopia Syndrome

These resources provide more information about the genetic causes of this syndrome and the associated hearing and vision problems.

For patients and families affected by this rare condition, additional support and advocacy groups can be found through the following resources:

  • The Deafness and Myopia Syndrome Support Center
  • Rare Diseases Advocacy

Genetic testing can also be performed to learn more about the specific genes and mutations that cause this syndrome. The frequency of this condition is rare, so it is important to consult with a healthcare professional or a genetic testing center for more information.

For more articles and scientific papers on this topic, the PubMed database can be a valuable resource. Searching using keywords like “deafness and myopia syndrome” or “sensorineural hearing loss and myopia” can provide additional information.

It is important to note that the information provided here is for educational purposes only and should not be used as a substitute for professional medical advice or diagnosis. Please consult with a healthcare professional for specific information about your own condition.