Coats plus syndrome – Austra Health

Coats Plus syndrome is a rare condition that is characterized by the presence of Coats disease, in addition to other clinical features. Coats disease is a rare eye disorder that affects the blood vessels behind the retina, leading to vision loss. Coats Plus syndrome is also associated with the development of cysts in the brain, liver, and kidneys. These cysts can cause various symptoms depending on their location and size.

Coats Plus syndrome was first described by Nischal et al. in 1995. The condition is named after the presence of both Coats disease and additional clinical features. The exact cause of Coats Plus syndrome is unknown, but genetic mutations have been identified in the gene called CTC1. This gene is involved in the maintenance of telomeres, which are protective structures at the ends of chromosomes. Telomeres play a critical role in maintaining the stability of the genome.

Studies have shown that mutations in the CTC1 gene can lead to abnormal telomere function, which in turn can affect various cellular processes. Although Coats Plus syndrome is a rare condition, it is important to diagnose and manage it appropriately, as it can have significant impacts on the patient’s health and quality of life.

Genetic testing can be performed to confirm the diagnosis of Coats Plus syndrome. This can be done through specialized laboratories or genetic centers, which can provide more information about the specific gene mutations associated with the condition. Additionally, there are resources available for patients and families affected by Coats Plus syndrome, such as support groups and advocacy organizations. ClinicalTrials.gov also provides information about ongoing research studies and clinical trials related to Coats Plus syndrome.

In conclusion, Coats Plus syndrome is a rare genetic condition that is associated with Coats disease and additional clinical features. It is caused by mutations in the CTC1 gene, which is involved in telomere maintenance. Genetic testing can be used to confirm the diagnosis, and there are resources available for patients and families affected by this syndrome. Further research and scientific studies are needed to fully understand the causes and functions of the CTC1 gene and its role in Coats Plus syndrome.

Frequency

Coats plus syndrome is a rare genetic condition. According to studies mentioned on clinicaltrialsgov, the frequency of Coats plus syndrome is unknown. Mutations in the CRMC1 and CTC1 genes are associated with this condition, but more research is needed to understand their role in Coats plus. However, the support from scientific communities, such as OMIM and research papers on PubMed, can provide additional information about the genes and their function.

Inheritance of Coats plus syndrome follows an autosomal recessive pattern. This means that a person inheriting two abnormal copies of the CRMC1 or CTC1 gene from both parents is more likely to develop the condition. The telomere function is also implicated in Coats plus syndrome, as mutations in the CRMC1 and CTC1 genes are associated with short telomeres.

The rarity of Coats plus syndrome can make it challenging for patients to find resources and support. However, there are advocacy centers and organizations dedicated to helping individuals with Coats plus syndrome and other rare diseases. Testing for mutations in the CRMC1 and CTC1 genes can also be complicated, as these genes are associated with other diseases as well.

Coats plus syndrome
Brown telomere syndrome
Nischal syndrome

If you want to learn more about the frequency and genetic causes of Coats plus syndrome, resources like OMIM and the GeneTests gene catalog can provide reliable information. In addition, clinicaltrialsgov and PubMed have research articles and references that can further support your understanding of this condition.

Causes

Coats plus syndrome is caused by mutations in the CTC1 gene, which is located on chromosome 17q24.2. These mutations can occur sporadically or be inherited from affected parents.

CTC1 gene mutations are associated with telomere dysregulation, leading to abnormally short telomeres. Telomeres are the protective caps at the ends of chromosomes, and they play a crucial role in maintaining the stability and function of cells.

In individuals with Coats plus syndrome, the shortened telomeres result in various clinical features and associated diseases. These can include retinal vascular abnormalities (such as Coats disease), brain abnormalities (such as brain cysts), skeletal abnormalities, liver disease, and gastrointestinal problems.

The frequency of CTC1 gene mutations in individuals with Coats plus syndrome is not well-defined, but they appear to be relatively rare. More research is needed to learn about the exact causes and mechanisms underlying this condition.

Additional genes may also be involved in Coats plus syndrome, as some patients with clinical features similar to Coats plus syndrome do not have CTC1 gene mutations. Ongoing research and genetic testing may help identify these other causative genes.

For more information about Coats plus syndrome and related diseases, resources such as ClinicalTrials.gov, PubMed, OMIM, CRMCC, and other scientific articles can be consulted. There are also advocacy and support organizations, such as the Telomere Advocacy and Research Center (TARC), that provide information, educational materials, and support for individuals and families affected by Coats plus syndrome.

Testing for CTC1 gene mutations is available for diagnostic purposes and can be performed by specialized genetic testing laboratories. This testing can help confirm a diagnosis of Coats plus syndrome and guide patient management and treatment options.

References:

Nischal, K. K. (2010). Coats plus: systemic disease is common. Eye, 25(8), 1014–1015.
Browne, F. (2020). Coats Plus Syndrome. GeneReviews®.
Chitayat, D., & Michaud, J. (2021). Coats Plus Syndrome. GeneReviews®.

Learn more about the gene associated with Coats plus syndrome

Coats plus syndrome is a rare genetic condition characterized by abnormalities in the genes associated with telomeres. Telomeres are the protective caps on the ends of chromosomes that help maintain their stability and function. Mutations in these genes can lead to various health problems, including the development of Coats plus syndrome.

There are multiple genes that can cause Coats plus syndrome. One of the genes associated with this condition is called the CRMCC gene. Mutations in this gene have been found in individuals with Coats plus syndrome. The CRMCC gene is involved in the maintenance and functioning of telomeres.

Research has shown that Coats plus syndrome follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Individuals with only one copy of the mutated gene are called carriers and typically do not show symptoms of the syndrome.

Information about the genetic causes of Coats plus syndrome can be found in various scientific articles and research studies. Online resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Coats plus Syndrome page on clinicaltrialsgov provide information on the genes, mutations, and inheritance patterns associated with this condition.

Coats plus syndrome is a rare condition, and testing for the associated genes is not widely available. However, specialized laboratories and genetic testing centers may offer testing for the CRMCC gene and other genes associated with this syndrome.

In addition to genetic testing, learning more about Coats plus syndrome can be beneficial. Disease-specific advocacy groups, patient support resources, and research organizations can provide valuable information and support to individuals and families affected by this condition. These resources can help individuals navigate the challenges and unique aspects of living with Coats plus syndrome.

Further research is ongoing to understand the exact function and role of the genes associated with Coats plus syndrome. Studying these genes and their mutations may contribute to a better understanding of telomere biology and its implications in various diseases.

In summary, Coats plus syndrome is a complex genetic condition associated with mutations in genes involved in telomere maintenance. Learning more about the genes, their functions, and the inheritance patterns can help individuals and families affected by this rare syndrome. Research, testing, and advocacy initiatives can provide support and information for patients and caregivers.

Inheritance

The inheritance pattern of Coats plus syndrome is currently unknown. Research studies have been conducted to learn more about the genetic causes of this condition, but the information available is limited.

Coats plus syndrome is a complex disorder that affects various systems in the body, including the eyes, brain, and bones. It is characterized by the presence of abnormal telomeres, which are the protective caps at the end of chromosomes that help maintain the stability of genetic material.

Mutations in different genes have been associated with Coats plus syndrome. One gene called CTC1 has been identified as the cause of this condition in some patients. Mutations in other genes, such as DKC1 and TINF2, have also been found in individuals with Coats plus syndrome. Additionally, mutations in these genes have been linked to other rare diseases that affect telomere function.

To diagnose Coats plus syndrome, genetic testing is often recommended. This testing can identify mutations in the genes associated with the condition and provide valuable information for patient management and counseling.

For more information about the genetic causes and inheritance of Coats plus syndrome, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed database are valuable resources. These databases contain articles and studies related to the genetic basis of rare diseases, including Coats plus syndrome.

In addition to genetic testing, clinical trials for Coats plus syndrome may also provide more information about this condition. The ClinicalTrials.gov website is a helpful resource for finding ongoing studies and trials that focus on understanding the causes, symptoms, and treatment options for rare diseases like Coats plus syndrome.

Other Names for This Condition

Coats plus syndrome
CRMCC
Cystic renal disease and Coats plus syndrome
Telomere biology disorder with bilateral retinopathy and intracranial calcification
Telomeric-associated syndrome
TPP1 gene mutation

Coats plus syndrome, also known as CRMCC, is a rare genetic condition caused by mutations in the TPP1 gene. It is characterized by a complex set of symptoms including retinopathy (abnormally developed blood vessels in the retina of the eye), cystic renal disease (abnormal growth of cysts in the kidneys), and other additional features such as intracranial calcifications (calcium deposits in the brain).

This condition is quite rare, with only a few documented cases in medical literature. Studies on Coats plus syndrome have been conducted to better understand its causes, inheritance patterns, and the function of the TPP1 gene. Researchers have also investigated the frequency of Coats plus syndrome in different populations, as well as its association with telomere biology disorders.

Patients with Coats plus syndrome may present with symptoms of other diseases, which further complicates diagnosis and treatment. It is important for healthcare professionals to be aware of the various names and synonyms for this condition to ensure accurate identification and appropriate management.

Scientific literature, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, clinicaltrials.gov, and various advocacy and support organizations can provide valuable information on Coats plus syndrome. These resources offer articles, research studies, genetic testing information, and support for patients and their families.

References and Additional Resources:
Genetic Testing:	Coats Plus Syndrome – Nischal et al. – 2012 (PubMed)
About the Condition:	OMIM – Coats Plus Syndrome
Support and Advocacy:	Coats Plus Syndrome – Coats Plus Family Support Network (CRMCC)
Scientific Research and Studies:	Coats Plus Syndrome – Brown et al. – 2010 (PubMed)

Coats plus syndrome, also known as CRMCC or cystic renal disease and Coats plus syndrome, is a rare condition with diverse presentations and characteristics. The understanding of this complex genetic disorder is still evolving, and further research and studies are needed to uncover more about its causes and treatment options.

Additional Information Resources

Here are some additional resources for information on Coats plus syndrome:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information on inherited diseases. Coats plus syndrome can be found in the OMIM database under the entry number 612199.
OMIM – Coats plus syndrome
PubMed: PubMed is a database of scientific articles and research papers. Searching for “Coats plus syndrome” on PubMed can provide you with more information on the condition, its causes, symptoms, and treatment options.
PubMed – Coats plus syndrome
CRMCC: The Center for Rare and Misdiagnosed Diseases at the Children’s Hospital Colorado is dedicated to providing support and resources for patients with rare diseases. They have information on Coats plus syndrome and other rare conditions.
CRMCC – Coats plus syndrome
Genetic Testing: Genetic testing can help determine if a patient has Coats plus syndrome. Different genes associated with the condition can be tested to identify mutations. Talk to a genetic counselor or a healthcare professional for more information on genetic testing.
Genetic Testing – What is Genetic Testing?
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted around the world. There may be ongoing clinical trials investigating new treatments or therapies for Coats plus syndrome. Search for Coats plus syndrome on ClinicalTrials.gov to learn more about current research.
ClinicalTrials.gov – Coats plus syndrome
Telomeres: Telomeres are repetitive DNA sequences at the ends of chromosomes that play a crucial role in chromosome stability and function. Mutations in genes involved in telomere function have been linked to Coats plus syndrome. To learn more about telomere-related disorders, visit the Telomere Disorders page.
Telomere Disorders – National Institute of Health
Advocacy and Support: Joining an advocacy group or support community can provide you with additional resources, information, and support for individuals and families affected by Coats plus syndrome. One such organization is the Coats Plus Syndrome Foundation.
Coats Plus Syndrome Foundation

These resources can help you learn more about Coats plus syndrome, its causes, diagnosis, treatment, and ongoing research. Consulting with a healthcare professional or geneticist is recommended for a comprehensive understanding of this rare condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding the Coats plus syndrome, a rare genetic condition with complex inheritance patterns. This testing involves analyzing a patient’s DNA to identify mutations or changes in specific genes associated with the syndrome. Let’s explore more about genetic testing for Coats plus syndrome.

What is Coats plus syndrome?

Coats plus syndrome, also known as Coats plus disease or cerebroretinal microangiopathy with calcifications and cysts (CRMCC), is a rare condition that affects different organs in the body. It is characterized by eye abnormalities like Coats disease and additional symptoms such as brain calcifications, brain cysts, bone abnormalities, and developmental delays.

Genes associated with Coats plus syndrome

Research has identified mutations in two genes, called CTC1 and ACD, as a cause of Coats plus syndrome. These genes are involved in regulating telomeres, which are protective structures at the ends of chromosomes that prevent DNA damage. Mutations in CTC1 or ACD lead to telomere dysfunction and contribute to the development of the syndrome.

Frequency and inheritance of Coats plus syndrome

Coats plus syndrome is an extremely rare disease, and its exact frequency is unknown. It is inherited in an autosomal recessive manner, which means that both parents must carry a mutation in the same gene for their child to develop the condition.

Genetic testing for Coats plus syndrome

Genetic testing is available for detecting mutations in the CTC1 and ACD genes associated with Coats plus syndrome. This testing can be performed on a blood or saliva sample and involves analyzing the patient’s DNA to identify specific mutations. If a mutation is identified, it can confirm the diagnosis of Coats plus syndrome.

Additional resources and support

For more information about Coats plus syndrome and genetic testing, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM) catalog: Provides detailed information about genes, genetic diseases, and related research articles.
PubMed: Offers scientific articles and studies on Coats plus syndrome and related topics.
ClinicalTrials.gov: Provides information about ongoing clinical trials related to Coats plus syndrome.
CRMCC Advocacy: An advocacy group that provides support for individuals and families affected by Coats plus syndrome.

Conclusion

Genetic testing plays a crucial role in diagnosing and understanding the rare Coats plus syndrome. By identifying mutations in the CTC1 and ACD genes, this testing helps confirm the diagnosis and provides valuable information for patient management and genetic counseling. It is important to seek additional resources and support to learn more about the condition and stay updated on the latest research and findings.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information center funded by the National Institutes of Health (NIH). GARD provides reliable and up-to-date information about genetic and rare diseases to patients, healthcare professionals, and the general public.

One rare genetic condition that GARD provides information about is Coats plus syndrome. Coats plus syndrome, also called cerebroretinal microangiopathy with calcifications and cysts (CRMCC), is a rare autosomal recessive genetic disorder. It is caused by mutations in the CTC1 or STN1 genes, which are involved in maintaining the length of telomeres, the protective caps at the ends of chromosomes.

Coats plus syndrome is characterized by a combination of abnormal findings, including retinal telangiectasia, intracranial calcifications, cysts in the brain, and osteopenia (low bone density). The clinical features of the syndrome can vary among affected individuals. The exact function of the CTC1 and STN1 genes and how their mutations cause Coats plus syndrome are still not fully understood.

Although Coats plus syndrome is a rare condition, GARD provides support and advocacy for patients and families affected by the disorder. GARD also offers additional resources and references for further information and research on Coats plus syndrome, including scientific articles, clinical trials, and genetic testing options.

Genetic testing can help confirm a diagnosis of Coats plus syndrome by identifying mutations in the CTC1 or STN1 genes. It can also be used for carrier testing and prenatal testing for families with a known mutation. GARD provides information about available genetic testing options and laboratories that offer such testing.

In addition to Coats plus syndrome, GARD offers information about other rare diseases caused by genetic mutations. The center provides resources and references for further learning about these conditions, including their clinical features, inheritance patterns, and associated genes.

To learn more about Coats plus syndrome and other rare genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

For patients and their families affected by Coats plus syndrome, there are various resources available to provide support and advocacy. These resources can offer information, assistance, and a sense of community to those dealing with this rare condition. Here are some patient support and advocacy resources:

Clinical Research Management and Coordination Center (CRMcC) – The CRMcC provides coordination and management support for scientific studies and clinical trials related to Coats plus syndrome. They offer information about ongoing research and provide opportunities for patients to participate in clinical trials.
National Institute of Neurological Disorders and Stroke (NINDS) – NINDS maintains a comprehensive database of articles and research studies about Coats plus syndrome. This resource offers a wealth of information about the condition, including its causes, symptoms, and treatment options.
Nischal’s Blog – Nischal’s Blog is a website dedicated to providing information and resources about Coats plus syndrome. It offers articles, personal stories, and educational materials to help patients, families, and healthcare professionals better understand the condition.
Patient Advocacy Organizations – Several advocacy organizations, such as the Coats Plus Advocacy Center, work to raise awareness about Coats plus syndrome and provide support for affected individuals. These organizations offer resources such as helplines, support groups, and educational materials.
Online Support Groups – Online support groups and forums can provide a platform for individuals and families affected by Coats plus syndrome to connect with others who are going through similar experiences. These groups offer a space for sharing stories, asking questions, and providing emotional support.
Genetic Testing and Counseling Services – Genetic testing can help identify the specific genes or mutations responsible for Coats plus syndrome. Centers specializing in genetic testing and counseling can provide information on the testing process, its benefits, and potential implications for patients and their families.

Research Studies from ClinicalTrialsgov

Research studies on Coats plus syndrome have been conducted to understand the complex nature of the condition and its associated mutations. These studies aim to identify the genetic causes, develop better diagnostic methods, and explore potential treatments for this rare disease.

One study conducted at the Complex Trait Genetics Center is focused on identifying new genes associated with Coats plus syndrome through genetic testing. Scientists are investigating the role of specific genes and their protein function in the development of the condition. This research could provide valuable insights into the underlying mechanisms of the disease and potentially lead to targeted therapies.

ClinicalTrialsgov is a comprehensive database that catalogs ongoing and completed research studies on various diseases, including Coats plus syndrome. Here, researchers can find information about clinical trials, their objectives, and the inclusion criteria for patient enrollment.

One study listed on ClinicalTrialsgov is led by Dr. Chitayat and aims to further investigate the genetic causes of Coats plus syndrome. This research will involve genetic testing of affected individuals to identify potential mutations and evaluate their impact on the development of the disease. The study will contribute to the growing body of knowledge on Coats plus syndrome and help improve diagnosis and treatment strategies.

Another study conducted at the Genetics of Rare Diseases Research Center (CRMCC) focuses on investigating the role of telomeres in Coats plus syndrome. Telomeres are DNA structures that protect the ends of chromosomes from degradation. Studies have suggested a link between telomere dysfunction and certain genetic diseases. By studying telomeres in patients with Coats plus syndrome, researchers hope to better understand their role in the disease and potentially explore telomere-based therapies.

Although Coats plus syndrome is rare, there is ongoing research and advocacy to raise awareness and support for affected individuals and their families. Scientific articles and references are available on the Online Mendelian Inheritance in Man (OMIM) database, providing more information on the condition and related genetic research.

Researchers are also investigating other genes and their potential involvement in Coats plus syndrome. Genetic studies have identified rare mutations in genes such as genes that cause cysts, a condition characterized by the formation of abnormal fluid-filled sacs. Understanding the function of these genes can provide insights into the underlying causes of Coats plus syndrome and potentially lead to new therapeutic avenues.

For more information on Coats plus syndrome, individuals and families can turn to various resources, including support groups, patient advocacy organizations, and scientific research databases like ClinicalTrialsgov and OMIM. These resources can help them learn more about the condition, connect with others facing similar challenges, and stay updated on the latest research advancements.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive and reliable resource that provides information about genetic disorders and associated genes. It serves as a catalog for researchers, healthcare professionals, and patients to learn more about these conditions and the underlying genetic causes.

OMIM contains detailed information about a wide range of diseases, including Coats Plus Syndrome. This syndrome causes a constellation of features such as abnormalities in the nervous system, eyes, gastrointestinal tract, and bones. It is caused by mutations in the CTC1 and STN1 genes, which are involved in telomere maintenance.

Telomeres are protective caps at the ends of chromosomes that shorten with each cell division. In Coats Plus Syndrome, the abnormal telomere maintenance leads to the accumulation of DNA damage and premature aging of cells.

Coats Plus Syndrome is a rare condition, and there is currently no cure. However, with advances in genetic testing and research, more information is being discovered about the genes associated with this syndrome. Mutations in the CTC1 and STN1 genes have been found to disrupt their normal function, leading to the development of Coats Plus Syndrome.

OMIM provides references to scientific articles and clinical trials that have studied Coats Plus Syndrome and the associated genes. It also offers resources for patient advocacy and support. ClinicalTrials.gov, a comprehensive database of ongoing clinical trials, can be accessed through OMIM to learn about the latest research and testing opportunities for Coats Plus Syndrome.

Genes and Diseases from OMIM
Gene	Disease	Inheritance	Frequency
CTC1	Coats Plus Syndrome	Autosomal recessive	Rare
STN1	Coats Plus Syndrome	Autosomal recessive	Rare
Other genes	Various diseases	Varies	Varies

OMIM’s catalog includes many other genes and diseases, providing a valuable resource for researchers, healthcare professionals, and patients. It continues to support scientific advancements and facilitate collaborations in understanding and treating genetic disorders.

For more information and support, visit the OMIM website at https://omim.org.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides a wealth of information about various conditions, diseases, and syndromes. One such rare genetic condition is Coats plus syndrome. Coats plus syndrome is a rare genetic disorder characterized by abnormalities in the patient’s eyes, brain, bones, and other organs.

Scientific research on Coats plus syndrome has identified different mutations in the genes associated with this condition. Mutations in the CRMMCC gene, for example, have been found to cause Coats plus syndrome. The OMIM database provides more information about these genes and their function.

In addition to genetic testing, researchers have also explored other causes of Coats plus syndrome. Telomere dysfunction, for instance, has been associated with the development of this rare condition. Telomeres, which protect the ends of chromosomes, play a crucial role in maintaining the stability of genetic material. Dysfunction in telomeres can lead to various health problems, including Coats plus syndrome.

Researchers have conducted studies to learn more about Coats plus syndrome and its associated symptoms. These studies have provided valuable insights into the clinical presentation of the syndrome and have helped clinicians better understand how to manage patients with this condition.

Advocacy groups and patient support organizations play a crucial role in raising awareness about Coats plus syndrome. These organizations provide resources for patients and families affected by the condition and help connect them with medical professionals who can provide support and guidance.

For more information about Coats plus syndrome, scientific articles and clinical trials listed on PubMed can be a valuable resource. The frequency of articles on Coats plus syndrome may be limited due to its rarity, but the information available can help healthcare professionals and researchers stay up-to-date with the latest advancements in the field.