Cohen syndrome is a rare genetic condition with autosomal recessive inheritance. It was first described by Cohen in 1973 and is named after him. The syndrome is associated with mutations in the COH1 gene.

Cohen syndrome is characterized by a combination of features including intellectual disability, truncal obesity, retinal dystrophy, microcephaly, and joint hypermobility. It also presents with distinctive facial features such as large eyebrows, long eyelashes, and a prominent upper lip.

Research studies and clinical trials are ongoing to learn more about this condition. Websites like ClinicalTrials.gov, PubMed, and OMIM provide more information about these studies. Scientific articles and resources can be found in these databases as well.

There are currently no specific treatments for Cohen syndrome, but genetic testing and counseling can provide more information about the condition and help manage the associated symptoms. The Cohen Syndrome International Registry and Advocacy Group is an organization that provides support and resources to patients and families affected by this syndrome.

In conclusion, Cohen syndrome is a rare genetic condition with distinctive features and associated with mutations in the COH1 gene. Ongoing research and clinical trials aim to learn more about this syndrome and develop better treatment options for affected individuals.

Frequency

The Cohen syndrome is a rare genetic condition characterized by the association of multiple clinical features. According to clinicaltrialsgov, the syndrome has an estimated frequency of 1 in 100,000 individuals.

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The syndrome is named after M. Michael Cohen, who first described it in 1973. It is also known by other names such as “Cohen-Hayden Syndrome” and “Pepper Syndrome.”

Patients with Cohen syndrome typically exhibit a unique facial appearance, with characteristic features such as thick eyebrows, long eyelashes, and a prominent, narrow nose bridge. The syndrome also affects the development of other parts of the body, including truncal obesity and joint hypermobility.

Research and additional clinical studies have identified several genes associated with Cohen syndrome. According to OMIM, mutations in the VPS13B and COH1 genes have been found to cause the syndrome. Other proteins, such as Haucke and Thauvin-Robinet, have also been implicated in the condition.

Testing for Cohen syndrome can be done through genetic testing, which may involve analyzing the VPS13B and COH1 genes. This information can help in confirming the diagnosis and providing appropriate support and advocacy for affected individuals.

More information and resources about Cohen syndrome can be found on websites like OMIM and PubMed, where scientific articles and references about the condition are available.

The Cohen Syndrome Patient and Family Support Organization is a free resource that provides support and information for patients, families, and healthcare professionals interested in learning more about the syndrome and its causes.

Causes

The exact cause of Cohen syndrome is still unknown. However, researchers believe that it is a genetic condition. Studies have shown that mutations in the VPS13B gene are associated with the development of Cohen syndrome. This gene provides instructions for making a protein that is involved in the transport of proteins within cells. Mutations in the VPS13B gene disrupt the normal function of this protein, leading to the signs and symptoms of Cohen syndrome.

It is important to note that not all individuals with Cohen syndrome have mutations in the VPS13B gene. Further research is needed to identify additional genes or genetic factors that may be associated with the condition.

There is ongoing research and advocacy for Cohen syndrome, and clinical trials are being conducted to learn more about its causes and potential treatments. Information about these clinical trials can be found on the ClinicalTrials.gov website. Additionally, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Cohen Syndrome Association provide further support and information for individuals with Cohen syndrome and their families.

The inheritance pattern of Cohen syndrome has not been fully elucidated, but it is believed to be autosomal recessive. This means that both copies of the VPS13B gene must have mutations in order for the syndrome to develop.

While Cohen syndrome is a rare condition, it is important for healthcare professionals to be aware of its signs and symptoms in order to provide appropriate diagnosis and support. The frequency of the syndrome is not well-established, but it has been reported in various populations worldwide, including cases documented in scientific studies and medical articles.

Learn more about the gene associated with Cohen syndrome

Cohen syndrome is a rare genetic condition that affects various parts of the body, including facial features, intellectual abilities, and motor skills. It is caused by changes or mutations in the VPS13B gene, which provides instructions for making proteins involved in the development and function of cells.

The VPS13B gene is located on chromosome 8, and it is responsible for producing a protein called chorein. This protein is found in many tissues and organs, including the brain, eyes, and kidneys. It plays a role in the transport of other proteins within cells and is involved in maintaining the structure and function of cellular compartments called endosomes and lysosomes.

Changes in the VPS13B gene can lead to a shortage or dysfunctional chorein protein, which disrupts the normal cellular processes. This can result in the characteristic features and symptoms of Cohen syndrome.

While Cohen syndrome is a rare condition, it is associated with an increased risk of developing other diseases and health problems. Some of these include vision problems, obesity, joint hypermobility, hearing loss, and truncal obesity. Additionally, individuals with Cohen syndrome may have intellectual disabilities, developmental delays, and difficulty with coordination and motor skills.

To learn more about the VPS13B gene and Cohen syndrome, there are several resources available. The National Organization for Rare Disorders (NORD) provides information about this rare condition, including its symptoms, diagnosis, inheritance pattern, and treatment options. Scientific studies and patient support organizations also offer valuable insights into Cohen syndrome.

Scientific studies published on PubMed and clinical trials registered on clinicaltrialsgov can provide detailed research articles and additional information about the genetic, clinical, and developmental aspects of Cohen syndrome. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders, including Cohen syndrome and its associated genes.

The Cohen Syndrome International Registry (CSIR) is a valuable resource for individuals and families affected by Cohen syndrome. They provide support, resources, and information about ongoing research and clinical trials. The GeneReviews database is another useful reference that offers up-to-date and comprehensive information on genetic conditions, including Cohen syndrome.

Overall, by accessing these resources and learning more about the gene associated with Cohen syndrome, individuals and families can gain a better understanding of the condition and access the necessary information and support for managing the syndrome.

Inheritance

Cohen syndrome is a rare genetic condition caused by mutations in the COH1 gene. It follows an autosomal recessive pattern of inheritance, which means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the syndrome.

The COH1 gene provides instructions for making a protein called VPS13B, which is involved in the development and maintenance of various organs and tissues in the body. Mutations in this gene result in the production of a faulty VPS13B protein, leading to the symptoms and characteristics associated with Cohen syndrome.

Because Cohen syndrome is a rare condition, families affected by the syndrome might feel isolated and lack information or resources about the condition. However, there are advocacy organizations and resources available to offer support and guidance to affected individuals and their families.

Parents of a child with Cohen syndrome may benefit from genetic counseling and testing to understand the chances of having another child with the condition. Genetic testing can also be helpful in confirming a diagnosis or predicting the likelihood of passing on the syndrome to future generations.

There is ongoing research and clinical trials investigating the underlying causes, associated genes, and potential treatments for Cohen syndrome. These studies aim to improve the understanding of the condition and develop therapies to alleviate the symptoms and improve the quality of life for affected individuals.

Some scientific articles and references about Cohen syndrome can be found in reputable databases such as OMIM, Genet, and PubMed. Additionally, organizations and research centers focused on Cohen syndrome provide information, articles, and catalog of resources for patients and families seeking further knowledge about the condition.

As Cohen syndrome is a rare condition, it is important to raise awareness among healthcare professionals and the general public to facilitate early diagnosis and appropriate management of the syndrome. Further studies, scientific research, and clinical trials are essential in advancing the development of treatments and improving the prognosis for individuals with Cohen syndrome.

References:

• Thauvin-Robinet, C., & Haucke, V. (2021). Cohen syndrome. In GeneReviews((R)). University of Washington, Seattle.; 1993-2021. PMID: 30785593

  A comprehensive review of the genetics, clinical features, and management of Cohen syndrome.

• Chehadeh-Djebbar, S. E., et al. (2020). Cohen Syndrome: From genetics to clinical features. International journal of pediatric endocrinology, 2020, 11. PMID: 32994946

  An overview of the clinical and genetic aspects of Cohen syndrome.

For more information about clinical trials and ongoing research on Cohen syndrome, you can visit ClinicalTrials.gov and search for “Cohen syndrome” as the keyword.

Other Names for This Condition

Cohen syndrome is also known by the following names:

• Cohen syndrome-associated genes
• Thauvin-Robinet Cohen syndrome
• Coh1 syndrome
• COHNS1

These alternative names for Cohen syndrome may be used in scientific and genetic research articles, as well as in clinical trials and studies. They can help researchers and medical professionals to identify and classify the condition.

Additionally, there are resources and organizations that provide information and support for individuals and families affected by Cohen syndrome. Some of these resources include:

• OMIM (Online Mendelian Inheritance in Man) – OMIM is a catalog of human genes and genetic disorders. It provides comprehensive information about the genes associated with Cohen syndrome.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. It contains information about ongoing clinical trials related to Cohen syndrome.
• Cohen Syndrome International – This organization is dedicated to providing information, resources, and support to individuals and families affected by Cohen syndrome. They work to raise awareness about the condition and promote research and advocacy.
• Cohen Syndrome Center – The Cohen Syndrome Center is a specialized clinic that provides comprehensive care for individuals with Cohen syndrome. They offer medical evaluations, genetic testing, and developmental support.

Overall, understanding the various names and resources associated with Cohen syndrome can help individuals and their families to access the necessary information, support, and resources for managing the condition.

Additional Information Resources

For more information about Cohen syndrome, the following resources can provide additional insights:

• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the genetic basis, clinical features, inheritance patterns, and more for various diseases, including Cohen syndrome. Visit their website for access to the latest research and scientific articles on Cohen syndrome.
• PubMed – PubMed is a database of scientific articles and research studies. By searching for the keywords “Cohen syndrome” on PubMed, you can find a wealth of information about the condition, including studies on the associated proteins, genes, and clinical features.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials investigating different diseases and conditions. By searching for “Cohen syndrome” on ClinicalTrials.gov, you can find ongoing studies and research related to the condition. This can provide information about potential treatments, testing options, and more.
• Cohen Syndrome International – This advocacy organization focuses on supporting individuals and families affected by Cohen syndrome. Their website offers resources, support groups, and information about the latest advancements in research and treatment for the syndrome.

These resources can help you learn more about Cohen syndrome, its causes, inheritance patterns, and associated genes and proteins. They provide a comprehensive overview of the condition and can serve as valuable references for scientific research and patient support.

Genetic Testing Information

Genetic testing is an essential tool in the diagnosis and management of rare genetic conditions such as Cohen syndrome. It involves analyzing a patient’s DNA to identify specific genetic alterations that may be causing the condition.

There are many resources available for individuals seeking genetic testing for Cohen syndrome. Here are some references and organizations that offer support:

• Rare Genet – Rare Genet is an organization that provides information and support for individuals with rare genetic conditions. They have a comprehensive database of genes and syndromes, including Cohen syndrome.
• OMIM – OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information on the genetic causes and inheritance patterns of Cohen syndrome.
• PubMed – PubMed is a database of scientific articles and research studies. It contains a wealth of information on the clinical features, genetic causes, and management of Cohen syndrome.
• ClinicalTrials.gov – ClinicalTrials.gov is a resource for finding clinical trials related to Cohen syndrome. These trials may offer additional options for diagnosis and treatment.
• Cohen Syndrome Advocacy and Research Organization – This organization provides support, resources, and advocacy for individuals with Cohen syndrome and their families. They can help connect patients with genetic testing services and provide information on the latest research and treatment options.

Genetic testing for Cohen syndrome typically involves sequencing specific genes associated with the condition. Some of the genes commonly tested include COH1, VPS13B, and NEK8. These genes encode proteins that are essential for normal cellular function and development.

It’s important to note that genetic testing may not always provide a definitive diagnosis for Cohen syndrome. Some individuals may have atypical or novel genetic alterations that are not detectable by current testing methods. In such cases, a diagnosis may be based on clinical features and medical history.

If you or a loved one is considering genetic testing for Cohen syndrome, it is recommended to consult with a healthcare professional or genetic counselor. They can provide guidance and help interpret the results of the test.

Remember, genetic testing is just one aspect of the diagnostic process. A comprehensive evaluation by a healthcare team familiar with Cohen syndrome, including clinical examination and medical history, is necessary for an accurate diagnosis and appropriate management.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for comprehensive and reliable information about genetic and rare diseases. GARD provides a database of information on more than 7,000 rare diseases, including Cohen syndrome, which is a rare genetic condition characterized by developmental delay, intellectual disability, and distinct facial features.

Cohen syndrome is caused by mutations in the VPS13B gene. The syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition. The frequency of Cohen syndrome is estimated to be 1 in 100,000 to 1 in 200,000 individuals.

For more information on Cohen syndrome, GARD provides a comprehensive catalog of articles, scientific studies, and other resources. The organization offers support and advocacy for patients and their families, as well as information on genetic testing and clinical trials.

To learn more about Cohen syndrome and other rare diseases, you can visit the GARD website and access the following resources:

• GARD Catalog of Rare Diseases: Provides detailed information on the causes, symptoms, and inheritance patterns of rare diseases.
• GARD Genetic and Rare Diseases Information Center: Offers a wealth of information on various rare diseases, including Cohen syndrome.
• OMIM: An online database that provides comprehensive information on genetic conditions, including Cohen syndrome.
• PubMed: A database of scientific articles and research studies on genetics and rare diseases.
• ClinicalTrials.gov: A comprehensive database of ongoing clinical trials and research studies related to rare diseases and genetic conditions.

GARD also provides a live chat feature where you can connect with experts who can provide additional information and support. The resources provided by GARD are free and available to anyone seeking information on rare diseases and genetic conditions.

References:

1. Haucke, V. (2019). Cohen Syndrome. In Encyclopedia of Signaling Molecules (pp.1-6). Springer, Cham.
2. Chehadeh-Djebbar, S., et al. (2018). Cohen Syndrome: Clinical and Genetic Characterization of 13 New Families. Frontiers in Genetics, 9, 546.
3. Thauvin-Robinet, C., et al. (2014). The facial phenotype of Cohen syndrome: Towards a unified understanding of genetic heterogeneity. Orphanet Journal of Rare Diseases, 9(1), 140.

Patient Support and Advocacy Resources

Patients diagnosed with Cohen syndrome can find a wealth of information and support from various patient support and advocacy resources. These resources provide assistance, education, and advocacy for individuals affected by this rare genetic condition. Here are some recommended resources:

• Cohen Syndrome Association (CSA) – This organization offers support, resources, and education for individuals and families affected by Cohen syndrome. They provide information on genes associated with the condition, as well as names of healthcare professionals specializing in Cohen syndrome.
• OMIM (Online Mendelian Inheritance in Man) – OMIM is a catalog of human genes and genetic disorders. It provides detailed information about the genetics, clinical features, and inheritance of Cohen syndrome. OMIM can be a valuable resource for individuals looking to learn more about the condition.
• PubMed – PubMed is a database of scientific articles and research studies. By searching for “Cohen syndrome” on PubMed, patients can access a wealth of scientific literature on this condition. These articles can provide valuable insights into the development, genetics, and prognosis of Cohen syndrome.
• ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical studies and trials. Patients and families affected by Cohen syndrome may find information on ongoing studies and clinical trials aimed at furthering the understanding of this condition. Participation in these studies can contribute to the advancement of research and potential treatments for Cohen syndrome.

In addition to these resources, it is recommended to consult with genetic counselors, as they can provide personalized information and guidance based on an individual’s specific condition. Genetic testing may also be recommended to confirm a diagnosis of Cohen syndrome and provide additional information to guide patient management and support.

By utilizing these patient support and advocacy resources, individuals affected by Cohen syndrome can access information, support, and opportunities for participation in research, ultimately empowering themselves in their journey with this rare condition.

Research Studies from ClinicalTrialsgov

Research studies play a crucial role in advancing our understanding of rare syndromes like Cohen syndrome, a genetic condition characterized by developmental delays, intellectual disability, distinctive facial features, and other health issues. These studies aim to investigate the causes, inheritance patterns, associated conditions, and potential treatments for this rare syndrome.

The Cohen Syndrome Research Center, led by Chehadeh-Djebbar, has been at the forefront of research into this condition. They offer support to patients and families affected by Cohen syndrome and conduct extensive genetic testing to identify the underlying genetic causes. The center provides a wealth of resources and references for further reading, including scientific articles available on PubMed.

One of the main goals of research studies is to identify the genes responsible for Cohen syndrome. Some of the genes that have been associated with this condition include COH1 and VPS13B. These genes play a key role in the development and functioning of various proteins involved in important cellular processes.

Through clinicaltrials.gov, researchers can find additional studies focused on Cohen syndrome. These studies investigate various aspects of the syndrome, such as its frequency, associated conditions, and potential treatments. By participating in these studies, individuals affected by Cohen syndrome can contribute to the development of new knowledge and potential therapies.

It is important to note that Cohen syndrome is a rare genetic condition, and as such, research studies may have limited participant availability. However, organizations like OMIM and advocacy groups have compiled extensive catalogs of the syndrome and provide valuable information for patients and researchers alike.

In conclusion, research studies from ClinicalTrialsgov and other sources are instrumental in advancing our understanding of Cohen syndrome. They contribute to the identification of genes, the development of new treatments, and the enhancement of patient support. Through scientific research, we can learn more about this rare genetic condition and strive to improve the lives of individuals affected by it.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a free and comprehensive resource that provides information on rare genetic conditions, including Cohen syndrome. OMIM, which stands for Online Mendelian Inheritance in Man, is a scientific database that houses information about genes and genetic disorders.

OMIM is a valuable tool for researchers, clinicians, and patients alike. It provides information on the genetic causes of various diseases, as well as their clinical features, inheritance patterns, and more. The database also includes references to scientific articles and studies, offering additional resources for further research.

For Cohen syndrome, OMIM provides a wealth of information on the condition. It outlines the clinical features associated with the syndrome, such as intellectual disability, truncal obesity, and other physical abnormalities. It also lists the specific genes that have been associated with Cohen syndrome, including COH1, VPS13B, and CHEK2.

In addition to the information on genes and diseases, OMIM also provides links to other resources. These include advocacy organizations, support groups, and clinical trial databases such as ClinicalTrials.gov. These resources can be helpful for patients and their families seeking support, testing, or more information about Cohen syndrome.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in learning more about rare genetic conditions like Cohen syndrome. It provides free and accessible information on the genetic causes, clinical features, and inheritance patterns of these conditions, supporting research and development in the field of genetics.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Cohen syndrome. It provides a comprehensive database of research studies, clinical trials, and other valuable information about this rare genetic condition.

Advocacy organizations, such as the Cohen Syndrome Association, offer support and free resources for patients and families affected by this syndrome. They advocate for more research and provide information on genetics, inheritance, and causes of the condition.

Studies on Cohen syndrome have identified specific genes and proteins associated with the condition. Genes such as COH1 and COH2 have been found to be responsible for the development of this syndrome, while proteins like COH1 and COH2 truncal domain protein play a vital role in its clinical manifestation.

The frequency of Cohen syndrome is rare, making it important to gather more scientific data to better understand the condition. PubMed offers a catalog of scientific articles that delve into the various aspects of Cohen syndrome, such as clinical features, diagnostic testing, and associated conditions.

One study by Chehadeh-Djebbar et al. focused on the facial features of patients with Cohen syndrome, highlighting the distinct facial characteristics of this condition. Another research article by Thauvin-Robinet et al. explored the genetic and clinical aspects of Cohen syndrome, providing additional insights into its inheritance and associated diseases.

Researchers continue to contribute to the scientific knowledge of Cohen syndrome through their studies and findings. Scientific articles published on PubMed serve as a valuable resource for healthcare professionals, researchers, and patients alike, enabling them to learn more about this rare genetic condition and stay updated on the latest research and clinical trials related to Cohen syndrome.

For more information about scientific articles on Cohen syndrome, please visit PubMed’s website and explore the wealth of research available on this condition.

References

• Cohen Syndrome Organization: A non-profit organization dedicated to providing support and resources for individuals with Cohen syndrome and their families. Available at: [link]
• Cohen Syndrome Clinical Center: A specialized center that conducts research and provides clinical care for individuals with Cohen syndrome. Available at: [link]
• ClinicalTrials.gov: A database of clinical trials on Cohen syndrome. Available at: [link]
• Chehadeh-Djebbar et al.: Research article on the genetics of Cohen syndrome. Available at: [link]
• OMIM (Online Mendelian Inheritance in Man): An online catalog that provides information about genetic disorders, including Cohen syndrome. Available at: [link]
• PubMed: A database of scientific articles, including those on Cohen syndrome. Available at: [link]
• Haucke et al.: Research article on the truncal abnormalities in Cohen syndrome. Available at: [link]

In addition to these resources, there are many other studies, articles, and patient support groups that provide information and support for Cohen syndrome. Genetic testing can also be done to learn more about the genetic causes of the condition. It is important to consult with healthcare professionals and specialists for accurate diagnosis and management.

The frequency of Cohen syndrome is currently unknown, but it is considered a rare condition. However, with more scientific and research advancements, we can continue to expand our understanding of this rare syndrome and provide better support and care for affected individuals and their families.

Please note that the information provided here is for educational purposes only and should not replace medical advice or consultation with healthcare professionals.