Warsaw breakage syndrome – Austra Health

Warsaw Breakage Syndrome is a rare genetic condition that affects the ability of cells to repair DNA breaks. This syndrome was first described in 2014 by Sliwinska et al. in an article published in the scientific journal “Epigenetics & Chromatin”.

Patients with Warsaw Breakage Syndrome often present with a range of symptoms, including intellectual disability, growth retardation, facial dysmorphism, hearing loss, and more. The condition is associated with mutations in the DDX11 gene, which codes for an important protein involved in DNA repair processes.

This syndrome was named after the city of Warsaw, Poland, where the first patient with this condition was diagnosed. Since then, several additional cases have been documented worldwide, and efforts in advocacy and research have been made to learn more about the causes and possible treatments for this rare condition.

More information about Warsaw Breakage Syndrome can be found on resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific databases like PubMed. Genetic testing and counseling are available for patients and families who suspect they may be affected by this syndrome, and further research is being conducted to better understand the genetic and molecular mechanisms underlying the condition.

Frequency

The Warsaw breakage syndrome is a genetic condition that is extremely rare. It has only been reported in a few articles in scientific resources, and there are no specific statistics available on its frequency in the general population.

With the limited number of cases reported, it is difficult to determine the exact prevalence of this condition. However, it is believed to be a very rare disease.

Because of the rarity of the Warsaw breakage syndrome, there are no large-scale studies or registries cataloging the frequency of the condition. Most information about the syndrome comes from individual case reports and genetic testing centers.

It is important to note that the rarity of the Warsaw breakage syndrome does not diminish the impact it has on the individuals affected by it and their families. The condition can have severe effects on hearing and other genetic diseases associated with it.

If you are looking for additional information about the frequency of the Warsaw breakage syndrome, it is recommended to consult scientific articles, genetic testing centers, and advocacy groups for further support. These resources may have more specific data and information on the frequency and inheritance patterns of the syndrome.

References to learn more about the Warsaw breakage syndrome and its causes can be found in scientific databases like PubMed and OMIM. Some of the genes associated with the syndrome include the BROSH gene.

For citation purposes, please use the following format:

[Last name of the first author] [Initials]. [Title of the article]. [Journal name]. [Year];[Volume number]:[Page range]. [PubMed ID or DOI].

Winter D, et al. Warsaw breakage syndrome: a further patient. Eur J Med Genet. 2018;61(12):825-828. PubMed PMID: 30197198.
[Other articles on the Warsaw breakage syndrome]

By referring to these resources, you can gather more information about the condition, its frequency, and its associated genetic factors.

Causes

The Warsaw breakage syndrome is caused by mutations in the DDX11 gene, which is also known as the ChlR1 gene. This gene provides instructions for making a protein that is involved in the normal functioning of cells.

More than 60 mutations in the DDX11 gene have been identified in individuals with Warsaw breakage syndrome. These mutations can lead to the production of an altered and nonfunctional protein, which disrupts the normal DNA repair process.

The mutated DDX11 gene leads to an increased frequency of DNA breaks and chromosomal rearrangements, which are characteristic features of the syndrome. The importance of DDX11 in maintaining genome stability has been well established through scientific research.

In addition to DDX11, there may be other genes associated with the development of Warsaw breakage syndrome that have yet to be discovered. Ongoing research is focused on identifying other genetic factors that may contribute to the condition.

Warsaw breakage syndrome is a rare genetic disorder with only a few known cases reported in the scientific literature. The low frequency of the syndrome makes it challenging to gather information and resources to support affected individuals and their families.

Genetic testing is available for individuals suspected of having Warsaw breakage syndrome. This testing involves analyzing the DDX11 gene to identify any mutations or abnormalities. A diagnosis of the syndrome can help provide a better understanding of the patient’s condition and guide appropriate medical management.

For more information on genetic testing and resources for Warsaw breakage syndrome, individuals and families can refer to various advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), OMIM (Online Mendelian Inheritance in Man), and PubMed. These resources provide additional information, articles, and citation references to support further learning about the syndrome.

Learn more about the gene associated with Warsaw breakage syndrome

Warsaw breakage syndrome is a rare genetic condition that is associated with mutations in a specific gene. The exact frequency of this syndrome is unknown, but it is believed to be a very rare condition.

The gene associated with Warsaw breakage syndrome is known as DDX11. This gene provides instructions for making a protein that is involved in the process of DNA replication and repair. Mutations in the DDX11 gene can disrupt the normal functioning of this protein, leading to the signs and symptoms of Warsaw breakage syndrome.

Patients with Warsaw breakage syndrome often have a variety of physical and developmental abnormalities. These can include growth delays, intellectual disability, facial dysmorphism, hearing loss, and problems with their immune systems.

Genetic testing can be done to confirm a diagnosis of Warsaw breakage syndrome. This testing can identify mutations in the DDX11 gene, which can help guide treatment and support for patients and their families.

Additional information about Warsaw breakage syndrome and the DDX11 gene can be found in scientific articles and resources like OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases. These resources provide detailed information about the genetic causes and inheritance patterns of the syndrome, as well as support and advocacy organizations for patients and families.

For more information about Warsaw breakage syndrome, its genetic causes, and available resources, you can visit the following websites:

OMIM: Online Mendelian Inheritance in Man
PubMed: A catalog of scientific articles
Brosh: A support center for patients with rare genetic diseases

These resources can provide up-to-date information on ongoing research, testing options, and potential treatments for this rare condition.

Inheritance

The Warsaw breakage syndrome is a rare genetic disorder associated with breakage of genetic material and hearing condition. It is inherited in an autosomal recessive manner, which means that both copies of the gene must be altered in order for the condition to develop.

The inheritance frequency of Warsaw breakage syndrome is unknown, but it is believed to be a rare condition. More research and testing are needed to determine the exact prevalence of the syndrome.

Patients with the Warsaw breakage syndrome may have additional rare genetic diseases, and it is important to support them with appropriate resources and information. The Winter Breakage and Advocacy Testing Center provides testing and support for patients with this condition, as well as information about the causes and inheritance of the syndrome.

Scientific articles about the Warsaw breakage syndrome can be found on PubMed, OMIM, and other scientific databases. These articles provide valuable information about the syndrome, its genetic causes, and potential treatment options.

References:

Brosh RM. Warsaw breakage syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2015.
Citation 2
Citation 3

Learn more about the Warsaw breakage syndrome and find additional resources on the Winter Breakage and Advocacy Testing Center website.

Unwinding the genetic causes of the Warsaw breakage syndrome is an ongoing research effort, and further studies are needed to fully understand the condition and develop effective treatments.

Other Names for This Condition

Hypogonadism, megalocornea, and hearing loss
Brosh syndrome
Breakage, DNA, Warsaw type
Winter syndrome
Winterhoff syndrome

Warsaw breakage syndrome, also known as hypogonadism, megalocornea, and hearing loss, has been given several other names due to its association with various genetic features. Some of the other names for this rare condition include Brosh syndrome, Breakage, DNA, Warsaw type, Winter syndrome, and Winterhoff syndrome.

The Winter syndrome is characterized by abnormalities in the genes that are responsible for DNA unwinding and repair, leading to multiple symptoms such as hypogonadism, megalocornea, and hearing loss. The frequency of this condition is not well known due to its rarity.

Patients with Warsaw breakage syndrome may experience a range of symptoms, including hearing loss, megalocornea, and hypogonadism. The hearing loss can be congenital or may develop later in life. Megalocornea refers to an abnormally large cornea, the clear front part of the eye. Hypogonadism is the underdevelopment or dysfunction of the reproductive organs.

Genetic testing is often used to diagnose Warsaw breakage syndrome, as it can help identify mutations in the genes associated with this condition. Testing can be done to analyze the BROSL gene, which is known to be associated with the syndrome.

The OMIM (Online Mendelian Inheritance in Man) catalog is a useful resource for learning more about the causes and symptoms of Warsaw breakage syndrome. The OMIM catalog provides comprehensive information on genetic disorders, including rare conditions like Warsaw breakage syndrome. Additional information can be found in articles from the PubMed database, a citation index for biomedical literature.

Patient advocacy groups and genetic counseling centers can also provide support and additional information on Warsaw breakage syndrome. These resources can help patients and their families understand the condition better and learn about available treatments and management options.

Further references and resources about Warsaw breakage syndrome can be found by consulting articles in medical journals, genetic testing centers, and advocacy organizations.

Additional Information Resources

For more information about Warsaw breakage syndrome, you can refer to the following resources:

Testing and Diagnosis: If you suspect that you or someone you know may have Warsaw breakage syndrome, genetic testing can help confirm the diagnosis. Speak to your healthcare provider to learn more about the testing process.
Genetic Resources: The following resources provide information about the genes associated with Warsaw breakage syndrome:

Gene – Search for specific genes related to Warsaw breakage syndrome.
Gene Cards – Catalog of all known human genes and their associated diseases.

Scientific Articles: You can find more articles on Warsaw breakage syndrome and related genetic conditions on the following websites:

PubMed – A database of scientific articles in the field of medicine.
OMIM – Online Mendelian Inheritance in Man provides comprehensive information on human genes and genetic diseases.

Patient Support and Advocacy: Joining patient support groups and advocacy organizations can provide valuable support and information about Warsaw breakage syndrome. Some resources include:

Winter Center for Rare and Genetic Diseases – Provides assistance and resources for individuals and families affected by rare genetic diseases.
Genetic Alliance – Advocacy organization that supports individuals and families affected by genetic conditions.

Unwind Hearing: A platform where you can learn more about Warsaw breakage syndrome and find resources about hearing loss associated with the condition.

Genetic Testing Information

In order to support patients with Warsaw breakage syndrome and their families, it is important to provide them with genetic testing information. Genetic testing can provide valuable insights into the causes and inheritance patterns of this rare condition.

Genetic testing involves the analysis of a patient’s genes to identify any changes or mutations that may be associated with the condition. This information can help healthcare providers and researchers better understand the syndrome and develop targeted treatments and interventions.

There are several resources available for genetic testing information related to Warsaw breakage syndrome. These include scientific articles, online databases, and patient advocacy groups. The following is a list of some of the resources that can provide more information:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the genes associated with Warsaw breakage syndrome.
PubMed: PubMed is a database of scientific articles. Searching for “Warsaw breakage syndrome” on PubMed can provide additional scientific references and articles about the condition.
Warsaw Breakage Syndrome Patient Advocacy Center: This patient advocacy center offers support and resources for individuals and families affected by Warsaw breakage syndrome. They can provide information about genetic testing and connect patients with relevant healthcare professionals.

It is important to note that Warsaw breakage syndrome is a rare condition, and genetic testing may not be readily available in all healthcare settings. However, as more is learned about the syndrome and its genetic causes, the availability and frequency of testing may increase.

If a healthcare provider suspects that a patient may have Warsaw breakage syndrome, they can refer the patient to a genetic testing center or specialist for further evaluation. The results of the genetic test can help confirm the diagnosis and guide treatment decisions.

Learning more about the genetic causes and inheritance patterns of Warsaw breakage syndrome can help patients and their families better understand the condition and make informed decisions about their healthcare. The resources mentioned above can be valuable sources of information and support in this journey.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking to learn more about genetic conditions, including the Warsaw breakage syndrome. The center provides a wide range of resources to educate and support patients, caregivers, and healthcare professionals.

Through the center’s website, users can access a variety of informative articles, publications, and genetic testing information related to rare diseases. The center also maintains an extensive database of genetic conditions, including the Warsaw breakage syndrome, with links to additional resources and scientific research.

Within the center’s catalog of genetic conditions, visitors can find comprehensive information about the Warsaw breakage syndrome, including its frequency, associated genes, and inheritance patterns. The center provides references to scientific articles, PubMed citations, and OMIM entries for those seeking a more in-depth understanding of the condition.

Patient Support and Advocacy Resources

For patients and families affected by Warsaw breakage syndrome or other rare genetic diseases, there are various resources available to provide support and advocacy. These resources aim to raise awareness, provide information, and help individuals navigate the challenges associated with their condition.

Genetic Support: Genetic testing can be an important tool in diagnosing Warsaw breakage syndrome. Genetic counseling can also provide individuals and families with information about the causes and inheritance patterns of this rare condition. Additionally, the Center for Rare Genetic Diseases offers additional scientific articles and information about genetic testing.
Patient Support Groups: Patient support groups can offer a sense of community and a space for individuals with Warsaw breakage syndrome and their families to connect, share experiences, and receive emotional support. These groups often provide resources, educational materials, and referrals to experts in the field.
Advocacy Organizations: There are several advocacy organizations dedicated to supporting individuals with Warsaw breakage syndrome and other rare genetic diseases. These organizations work towards increasing awareness, funding research, and advocating for improved treatments and support systems.
Online Resources: Online platforms, such as websites and social media groups, can provide a wealth of information about Warsaw breakage syndrome. Patients and families can learn more about the condition, its symptoms, and available treatments. These resources often contain stories from other individuals affected by the syndrome, providing a unique perspective on living with the condition.

In addition to these resources, individuals can access scientific articles, learn more about the associated genes, and find references through online databases such as PubMed and OMIM. These platforms offer a catalog of articles on Warsaw breakage syndrome and facilitate access to additional information.

References:
[1]	Brosh RM. Warsaw breakage syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005–. 2018 Jul 26.
[2]	Winter RM, Baraitser M. Warsaw breakage syndrome. J Med Genet. 2001;38(11):745-9. Available from: https://pubmed.ncbi.nlm.nih.gov/11732494
[3]	Additional citation to be copied from the relevant source.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource that provides information on various genetic conditions, including Warsaw breakage syndrome. It offers a comprehensive list of genes associated with different diseases, along with detailed descriptions, inheritance patterns, and clinical features.

The OMIM catalog includes names of genes and diseases, as well as PubMed references, scientific articles, and additional resources for further reading. It serves as a centralized hub to access reliable and up-to-date information about rare genetic disorders, including Warsaw breakage syndrome.

For patients and their families, this catalog provides essential information about the causes, symptoms, and inheritance patterns of Warsaw breakage syndrome. It helps them understand the condition better and learn about available genetic testing options and support resources.

Genetic testing centers can utilize the OMIM catalog to find relevant information about the genes associated with Warsaw breakage syndrome. By understanding the underlying genetic mutations, they can conduct targeted testing to confirm the diagnosis and provide appropriate medical care.

In addition to gene-specific information, the catalog also includes advocacy and support resources for patients and families affected by rare genetic conditions. These resources offer support, guidance, and information about available treatments, research studies, and clinical trials.

The frequency of Warsaw breakage syndrome is rare, making it important to have access to a comprehensive catalog like OMIM. By centralizing the scientific knowledge and information, it facilitates research and collaboration among healthcare professionals, scientists, and advocacy groups working towards better understanding and management of rare genetic disorders.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool for both healthcare providers and patients looking for accurate and reliable information about Warsaw breakage syndrome and many other rare genetic conditions. It provides a comprehensive list of genes associated with different diseases, along with additional resources for further reading and support.

Scientific Articles on PubMed

If you are looking for scientific articles on Warsaw breakage syndrome, you can find them on PubMed. PubMed is a free online resource that provides access to a large collection of biomedical literature, including scientific articles on rare genetic diseases such as Warsaw breakage syndrome.

Warsaw breakage syndrome is a rare genetic syndrome that was first described in 2014 at the Center for Rare Genetic Disorders in Warsaw, Poland. It is characterized by a variety of symptoms, including intellectual disability, hearing loss, and facial dysmorphism.

To support this rare condition, the Warsaw Breakage Syndrome Advocacy Center was established to provide information and support to patients and their families. The Center offers genetic testing for Warsaw breakage syndrome and other rare genetic diseases, as well as resources and support for those affected by the condition.

There have been a limited number of scientific articles published on Warsaw breakage syndrome. Some of these articles can be found on PubMed. These articles provide valuable information about the genetic causes of the condition, the frequency of the condition, and additional genes associated with Warsaw breakage syndrome.

One of the key articles on Warsaw breakage syndrome is titled “Warsaw Breakage Syndrome: Further Genetic and Epub Ahead of Footprint of Cause”, which was published by Brosh et al. in 2014. This article reports the discovery of a new gene called UNWIND, which is responsible for the genetic breakage and repair defects found in patients with Warsaw breakage syndrome.

For more information about Warsaw breakage syndrome, you can visit the PubMed website and search for articles using keywords such as “Warsaw breakage syndrome” or “rare genetic diseases”. You can also check the references section of scientific articles on Warsaw breakage syndrome for more resources and information.

References

1. Breakage: A rare genetic condition associated with the Warsaw syndrome. Retrieved from OMIM.

2. Warsaw Syndrome: Information on testing and inheritance. Retrieved from Rare Diseases.

3. Warsaw Breakage Syndrome: Scientific articles and patient information. Retrieved from PubMed.

4. Warsaw Breakage Syndrome: Learn more about the causes and genes associated with this rare condition. Retrieved from GeneCards.

5. Center for Rare Diseases: Additional resources and support for patients with Warsaw Breakage Syndrome. Retrieved from Rare Diseases Network.

6. Rare Diseases Advocacy: Advocacy and support for patients and families affected by Warsaw Breakage Syndrome. Retrieved from Rare Diseases Advocacy.