Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing of the vessels in the brain. It was first identified in Japan, where it is more prevalent, but cases have been reported worldwide. The exact cause of the condition is not fully understood, but it is believed to have a genetic component.

Research has shown that certain genes may be associated with Moyamoya disease. More studies are being conducted to better understand the role of these genes and their proteins in the development of the disease. Additional genetic testing and research are needed to learn more about the inheritance pattern and the specific genes involved.

Despite its rarity, Moyamoya disease has gained attention in recent years, with more articles and scientific resources dedicated to providing information and support for patients and their families. Organizations and advocacy groups have also been established to raise awareness about the condition and offer support to those affected.

The frequency of Moyamoya disease varies among populations, with higher prevalence reported in certain regions, such as Japan. The condition can be diagnosed through various clinical testing methods, including angiography and MRI scans. Treatment options typically involve surgical procedures to restore blood flow to the brain and prevent further complications.

If you are interested in learning more about Moyamoya disease, additional information and resources can be found on websites like ClinGen and PubMed. The National Institutes of Health’s Genetic Testing Registry and ClinicalTrials.gov can also provide further information on ongoing research studies and clinical trials related to this rare condition.

Frequency

Moyamoya disease is a rare condition, with an estimated frequency of 1 in 100,000 individuals worldwide. It is more commonly observed in certain populations, such as the Japanese, where its frequency is estimated to be 1 in 300 individuals.

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Genetic research has identified several genes associated with Moyamoya disease. The most well-known gene is the RNF213 gene, which has been found to be mutated in the majority of Moyamoya patients of Japanese ancestry. Other genes, such as the ACTA2 and CCM2 genes, have also been found to play a role in the development of the disease.

Copy number variations and other genetic factors have also been implicated in the pathogenesis of Moyamoya disease. Research into the genetic basis of the disease is ongoing, and further studies are needed to fully understand the role of these genes and genetic factors in the development of Moyamoya.

Clinical characteristics and inheritance patterns of Moyamoya disease have also been studied. It is believed to be an autosomal recessive condition, meaning that both copies of a gene must be mutated for the disease to occur. However, there are also cases of Moyamoya disease that have been inherited in an autosomal dominant manner.

For more information about the frequency of Moyamoya disease and the genes associated with it, you can refer to the following resources:

• The Moyamoya Disease Foundation website (moyamoya.org) provides information and support for patients and families affected by the condition.
• The Genetic and Rare Diseases Information Center (GARD) website (rarediseases.info.nih.gov) has articles and references on Moyamoya disease.
• The ClinicalTrials.gov website (clinicaltrials.gov) lists ongoing research and clinical trials related to Moyamoya disease.
• The OMIM database (omim.org) provides genetic and clinical information on various diseases, including Moyamoya.
• The PubMed database (pubmed.ncbi.nlm.nih.gov) contains scientific articles on Moyamoya disease and its genetic basis.

Causes

Moyamoya disease is a rare genetic condition that affects the blood vessels in the brain. The exact cause of the disease is unknown, however, research has shown that genetic factors play a role in its development.

Many cases of Moyamoya disease are sporadic, meaning they occur without a family history of the condition. However, for some individuals, the disease can be inherited from their parents. Studies have identified several genes that are associated with Moyamoya disease, including the RNF213 gene.

Scientific research has shown that mutations in the RNF213 gene can increase the risk of developing Moyamoya disease. The frequency of these mutations varies across different populations, with a higher frequency observed in individuals of Japanese descent. In fact, Moyamoya disease was first described in Japan and is named after the Japanese term for “puff of smoke,” which describes the appearance of the blood vessels on imaging tests.

In addition to genetic factors, there may be other factors that contribute to the development of Moyamoya disease. Some research suggests that certain environmental and infectious factors may play a role, but further studies are needed to fully understand these potential causes.

Currently, there is no cure for Moyamoya disease, but there are treatment options available to manage the symptoms and slow the progression of the condition. These treatments can include medications to prevent blood clots, surgical procedures to improve blood flow to the brain, and rehabilitation therapies to help patients adapt to any neurological deficits.

For individuals diagnosed with Moyamoya disease, it is important to receive appropriate medical care and support. There are advocacy groups and patient support resources available to provide additional information and connect individuals with the necessary resources. Clinical trials and research studies are also ongoing to learn more about the disease and develop new treatment options.

References:

• Nagata, E. et al. (2014). Moyamoya disease: overview and current status. Surg Clin North Am. 94(2):387-400.
• Moyamoya Disease – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/moyamoya-disease#genes
• Moyamoya Disease Information Page. (n.d.). Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Moyamoya-Disease-Information-Page

Learn more about the gene associated with Moyamoya disease

Moyamoya disease is a rare brain condition that affects the blood vessels in the brain, causing them to narrow and become blocked. The exact cause of Moyamoya disease is not fully understood, but research has shown that it is associated with genetic factors.

Studies have identified several genes that are associated with Moyamoya disease. These genes play a role in the development and maintenance of the blood vessels in the brain. One gene that has been extensively studied is the RNF213 gene.

The RNF213 gene is located on chromosome 17 and encodes a protein that is involved in the growth and remodeling of blood vessels. Mutations in this gene are found in a large proportion of patients with Moyamoya disease, particularly in individuals of Japanese descent.

Research has shown that mutations in the RNF213 gene are a major risk factor for developing Moyamoya disease. However, it is important to note that not all individuals with these mutations will develop the condition. Other factors, such as environmental and lifestyle factors, may also play a role in the development of the disease.

Genetic testing can be performed to identify mutations in the RNF213 gene. However, this testing is currently only available in certain research and clinical settings. Patients who are interested in genetic testing should speak with their healthcare provider to determine if testing is appropriate for them.

For additional information about the genetics of Moyamoya disease, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes associated with the condition. PubMed is also a useful resource for finding scientific articles and studies on the genetic factors associated with Moyamoya disease.

Advocacy and support groups, such as the Moyamoya Disease Foundation, can provide resources and information for patients and their families. These organizations can also provide information about ongoing research and clinical trials for Moyamoya disease.

In conclusion, the RNF213 gene is one of several genes associated with Moyamoya disease. Research has shown that mutations in this gene play a significant role in the development of the condition. However, additional research is still needed to fully understand the genetic causes and inheritance patterns of the disease.

References:

1. Nagata E. Moyamoya disease: Diagnosis and treatment. Practical Neurology. 2016;16(3):1-3.
2. Genetics Home Reference. Moyamoya disease. Retrieved from https://ghr.nlm.nih.gov/condition/moyamoya-disease
3. ClinicalTrials.gov. Moyamoya disease. Retrieved from https://clinicaltrials.gov/ct2/results?term=moyamoya+disease
4. Moyamoya Disease Foundation. Retrieved from https://www.moyamoya.com/

Inheritance

Moyamoya disease has been found to have a genetic component. Studies have identified several genes that play a role in the development of this condition. Inheritance of moyamoya disease can occur in different ways.

Some cases of moyamoya disease are inherited in an autosomal dominant pattern. This means that a person only needs to inherit one copy of the altered gene from one affected parent in order to develop the disease. In these cases, there is a 50% chance for each child of an affected individual to inherit the gene and be at risk for developing moyamoya disease.

In other cases, moyamoya disease may be caused by additional genetic factors. These factors can interact with other genes and environmental factors to increase the risk of developing the disease. The exact inheritance pattern and the specific genes involved in these cases are still being studied.

Scientists have also identified certain proteins that may play a role in moyamoya disease. These proteins are involved in the development and function of blood vessels in the brain. Alterations in these proteins may contribute to the characteristic narrowing and blockage of blood vessels seen in moyamoya disease.

Currently, there is no consensus on the frequency of the genetic component of moyamoya disease. Some studies suggest that it may be rare, while others indicate that it may be more common. As more research is conducted, we may learn more about the genetic factors that contribute to this condition.

If you would like more information about the inheritance of moyamoya disease or genetic testing options, there are several resources available. Scientific articles, clinical genetics centers, and advocacy organizations can provide helpful information and support. You can also find references to relevant studies and genetic databases such as OMIM (Online Mendelian Inheritance in Man) or PubMed. Additionally, clinicaltrialsgov may have information about ongoing research studies.

Other Names for This Condition

Moyamoya disease is also known by other names:

• Moyamoya syndrome
• Nagata disease

These names are used interchangeably to refer to the same condition.

The name “Moyamoya” comes from the Japanese word for “hazy” or “cloudy,” which describes the appearance of the blood vessels in the brain affected by the disease.

This condition was first described in Japan, and the term “Moyamoya disease” is the most commonly used name for this condition internationally.

Research studies have identified genetic factors that play a role in the development of Moyamoya disease. Copy number variation and mutations in certain genes have been associated with a higher risk of developing the condition. These genes are involved in the growth and development of blood vessels in the brain.

Genetic testing can be used to detect these genetic abnormalities in patients with Moyamoya disease. However, not all cases of Moyamoya disease are caused by genetic factors, and the exact causes of this condition are still not fully understood.

Additional research is ongoing to learn more about the genetics and inheritance patterns of Moyamoya disease. Studies are also being conducted to understand the role of proteins and other factors in the development of this condition.

Patient advocacy groups and resources such as the Moyamoya Disease Foundation provide support, information, and resources for individuals and families affected by this rare condition.

Scientific articles, references, and clinical trials related to Moyamoya disease can be found through resources such as PubMed, OMIM, and ClinicalTrials.gov. These sources can provide more information about the clinical characteristics, frequency, and associated diseases of Moyamoya disease.

In conclusion, Moyamoya disease is a rare brain vessel disease with various names, genetics, and associated factors. Further research is needed to fully understand the causes and inheritance patterns of this condition.

Additional Information Resources

For more information about Moyamoya disease, you can refer to the following resources:

• Scientific Articles and Studies: There are numerous scientific articles and studies available that provide in-depth information about the causes, genetic factors, and characteristics of Moyamoya disease. You can find these articles on scientific databases such as PubMed and OMIM.
• Genetic Testing and Genetic Research: Genetic testing can play a significant role in understanding the genetic factors associated with Moyamoya disease. ClinicalTrials.gov provides information about ongoing genetic testing and research studies related to Moyamoya disease.
• Clinical Centers and Patient Support: Clinical centers specializing in Moyamoya disease can provide additional information and support for patients and their families. These centers may have resources ranging from patient education materials to genetic counseling services.
• Genetic Inheritance Factors: Moyamoya disease can have a genetic component, and understanding the inheritance patterns and genes involved can help provide further insight into the condition. Additional information about the genetics of Moyamoya can be found in the scientific literature and databases like OMIM.
• Advocacy and Support Groups: There are advocacy and support groups dedicated to raising awareness about Moyamoya disease and supporting affected individuals and their families. These organizations can provide resources, support, and connections to other individuals and families affected by the disease.

By exploring these additional resources, you can learn more about the genetic and clinical factors associated with Moyamoya disease and find support for those affected by this rare condition.

Genetic Testing Information

Genetic testing can provide valuable information about Moyamoya disease. By analyzing a patient’s DNA, genetic testing can identify specific genes and genetic factors that are associated with the condition. This information can help in the diagnosis, treatment, and prognosis of the disease.

There are several resources available to learn more about the genetic aspects of Moyamoya disease:

• The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis of various diseases, including Moyamoya disease. You can access the OMIM entry on Moyamoya disease at https://omim.org/entry/252350.
• The ClinicalTrials.gov website lists ongoing clinical trials related to Moyamoya disease. These trials investigate various aspects of the disease, including its genetic causes and potential treatments. You can find more information about these trials at https://clinicaltrials.gov/.
• The Nagata Center for Moyamoya Disease Research is a center in Japan that focuses on studying the genetics of Moyamoya disease. They conduct research on the role of specific genes and genetic factors in the development and progression of the disease. You can find more information about their work on their website at http://www.nagata-moyamoya.com/english/.
• PubMed is a scientific database that contains numerous articles and research studies on Moyamoya disease. By searching for relevant keywords such as “Moyamoya disease genetics” or “genetic factors in Moyamoya disease,” you can find additional resources and research articles on the topic. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.

Through genetic testing, scientists have identified several genes that are associated with Moyamoya disease. These genes play a role in the development and function of blood vessels in the brain. Mutations or changes in these genes can disrupt the normal growth and maintenance of blood vessels, leading to the characteristic narrowing and blockage seen in Moyamoya disease.

Some of the genes associated with Moyamoya disease include:

Gene	Protein	Inheritance Pattern
RNF213	Ring Finger Protein 213	Autosomal Dominant
ACTA2	Smooth Muscle Alpha-2-Actin	Autosomal Dominant
BRCC3	BRCA1/BRCA2-Containing Complex Subunit 3	Autosomal Recessive

It is important to note that not all cases of Moyamoya disease are caused by mutations in these genes. Other genetic and environmental factors may also contribute to the development of the condition.

Genetic testing can provide valuable information for patients with Moyamoya disease and their families. Identifying the genetic causes of the condition can help with early diagnosis, genetic counseling, and potentially targeted treatments. However, it is important to consult with a healthcare professional or genetic counselor to understand the limitations, benefits, and implications of genetic testing.

In addition to genetic testing, there are other resources available to support individuals and families affected by Moyamoya disease. There are advocacy organizations that provide information, support, and resources for individuals with Moyamoya disease and their families. These organizations can help connect individuals with medical professionals, research studies, treatment options, and support networks.

By learning more about the genetics of Moyamoya disease and accessing the available resources, individuals and families can gain a better understanding of the condition and make informed decisions about their healthcare.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about genetic and rare diseases to the public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS). The center aims to improve the lives of patients and their families through research, patient support, and advocacy.

Moyamoya disease is one of the rare conditions covered by GARD. It is a rare genetic vascular disorder that affects the blood vessels in the brain. Studies have shown that mutations in certain genes, such as the RNF213 gene, play a role in the development of this disease. However, the exact causes of moyamoya disease are still not fully understood.

Moyamoya disease is characterized by the progressive narrowing and eventual blockage of the vessels that supply blood to the brain. This can lead to the formation of small blood vessels, known as collateral vessels, to compensate for the reduced blood flow. The frequency of moyamoya disease is higher in Japan, where it was first described, but cases have also been reported in other parts of the world.

The Genetic and Rare Diseases Information Center provides information about the disease, including its symptoms, diagnosis, and treatment options. It also offers resources for genetic testing and research studies related to moyamoya disease. The center maintains a comprehensive catalog of genetic and rare diseases, which can be accessed through its website.

For more information about moyamoya disease, GARD provides articles, references, and scientific papers. These resources can help individuals learn more about the disease and its associated genetic factors. GARD also provides links to additional sources of information, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed.

ClinicalTrials.gov is another valuable resource for individuals interested in participating in research studies on moyamoya disease. This website provides a searchable database of ongoing clinical trials that are investigating new treatments for rare diseases like moyamoya.

In conclusion, the Genetic and Rare Diseases Information Center offers support and information for individuals affected by moyamoya disease and other rare genetic conditions. It plays a crucial role in spreading awareness, facilitating research, and connecting patients with the resources they need.

Patient Support and Advocacy Resources

Patient support and advocacy resources are crucial for individuals and families affected by Moyamoya disease. These organizations provide valuable information, support, and resources to help navigate the challenges associated with this rare condition.

Moyamoya Disease Foundation – This organization is dedicated to providing support, education, and resources to individuals and families affected by Moyamoya disease. Their website offers a comprehensive catalog of information about the disease, including its causes, symptoms, and treatment options. They also provide links to scientific articles and research studies on Moyamoya disease.

Genetic and Rare Diseases Information Center (GARD) – GARD is a federally funded resource that provides information about rare genetic diseases. Their website features an extensive database of genetic conditions, including Moyamoya disease. Users can find information about the frequency, inheritance patterns, and gene names associated with this condition.

OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that catalogs information about genetic diseases. They provide detailed information about the genes and inheritance patterns associated with Moyamoya disease. Users can access their database to learn more about the specific genes and proteins involved in the development of this condition.

Nagata Moyamoya Foundation – The Nagata Moyamoya Foundation is a nonprofit organization that supports research, education, and patient care for individuals with Moyamoya disease. Their website provides information about the latest research studies and clinical trials related to this condition. They also offer support services for individuals and families affected by Moyamoya disease.

PubMed – PubMed is a widely used database for scientific literature. It includes research articles, case studies, and other scientific publications related to Moyamoya disease. Users can search PubMed to find additional information and resources about this condition.

Moyamoya Clinical Trials – ClinicalTrials.gov is a database of clinical trials conducted around the world. Users can search for ongoing or completed clinical trials related to Moyamoya disease. Participating in clinical trials can provide access to cutting-edge treatments and contribute to advancing research in this field.

These patient support and advocacy resources play a crucial role in providing information, support, and resources for individuals and families affected by Moyamoya disease. Through these organizations, patients can learn more about the condition, connect with others facing similar challenges, and find additional support and resources for managing this rare brain vessel disease.

Research Studies from ClinicalTrialsgov

Research studies on moyamoya disease can provide valuable information and resources for patients, clinicians, and researchers. ClinicalTrialsgov is a comprehensive catalog of clinical research studies, including those focused on moyamoya disease.

Several research studies have investigated various aspects of moyamoya disease, including its causes, genetic factors, inheritance patterns, and treatment options. These studies aim to improve understanding of the condition, identify potential risk factors, and develop effective treatment strategies.

One of the key areas of research is the identification of genes associated with moyamoya disease. Genetic studies have identified specific genes and proteins that play a role in the development and progression of the disease. These genes include ACTA2, RNF213, and PDGFRB. Understanding the genetic basis of moyamoya disease can help in the development of targeted therapies and genetic testing for patients.

Studies have also explored the frequency of moyamoya disease and its association with other rare diseases. Researchers have found that moyamoya disease is more common in certain populations, such as the Japanese population. Inheritance patterns and genetic factors also contribute to the development of the disease, highlighting the importance of genetic testing and counseling for affected individuals and their families.

ClinicalTrialsgov provides a platform for researchers and scientists to share their findings and collaborate on future studies. The database includes clinical trials focused on moyamoya disease, which can provide opportunities for patients to participate in research and access cutting-edge treatments.

In addition to scientific research, resources and support for patients and their families can be found through advocacy organizations and patient support groups. These organizations play a crucial role in raising awareness about moyamoya disease, providing information and resources, and advocating for improved diagnosis and treatment options.

In conclusion, research studies from ClinicalTrialsgov offer valuable information about moyamoya disease, its causes, genetic factors, and treatment options. These studies contribute to a better understanding of the condition and provide hope for improved outcomes for patients.

Catalog of Genes and Diseases from OMIM

The scientific community can learn more about the genetic condition Moyamoya disease through the catalog of genes and diseases available from Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive resource that provides information on the genetic factors, clinical characteristics, and associated diseases of various conditions.

The OMIM catalog includes information on the genes and genetic variants associated with Moyamoya disease. Researchers and clinicians can access this catalog to understand the genetic basis of the condition, identify potential risk factors and causes, and explore potential treatment options.

OMIM provides links to additional resources such as PubMed and ClinicalTrials.gov, which offer access to relevant research articles and ongoing clinical trials related to Moyamoya disease. These resources can support further investigation and understanding of the disease.

Moyamoya disease is a rare condition, most frequently observed in Japan, characterized by the progressive narrowing of blood vessels in the brain. The exact causes of Moyamoya disease are not fully understood, but genetic factors play a significant role. The OMIM catalog provides information on the genes associated with the condition, such as the RNF213 gene.

Patient advocacy groups and genetic testing labs can also benefit from the OMIM catalog. They can access information on the inherited patterns, frequency, and clinical features of Moyamoya disease, which can aid in patient support and genetic counseling.

OMIM provides references to scientific articles and studies that have explored the genetic basis and associated diseases of moyamoya disease. This allows scientists and clinicians to stay up-to-date with the latest research in the field.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for learning more about Moyamoya disease. It provides information on the genetic factors, clinical characteristics, associated diseases, and references to scientific articles and studies. Researchers, clinicians, patient advocacy groups, and genetic testing labs can utilize this catalog to enhance their understanding and support for individuals affected by Moyamoya disease.

Scientific Articles on PubMed

Scientific research plays a crucial role in understanding and managing Moyamoya disease. PubMed is a valuable resource for finding scientific articles related to this condition. Here are some key aspects of Moyamoya disease and the associated scientific articles on PubMed:

• OMIM Catalog: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog that provides information on the genetics of diseases, including Moyamoya disease.
• Genetic Studies: Several studies have been conducted to examine the genetic factors associated with Moyamoya disease. These studies have identified various genes, such as the RNF213, ACTA2, and GUCY1A3 genes, that play a role in the development of this condition.
• Rare Disease: Moyamoya disease is considered a rare condition, particularly outside of Japan. However, the frequency of Moyamoya disease is higher in Japan compared to other countries.
• Additional Information: PubMed provides additional information on Moyamoya disease, including clinical trials, patient resources, and advocacy organizations such as the Moyamoya Center.
• Genetic Proteins and Inheritance: Understanding the genes and proteins involved in Moyamoya disease can help researchers learn more about the causes and mechanisms of this condition. This knowledge can also assist in genetic testing and counseling for patients and their families.
• Brain Vessel Condition: Moyamoya disease primarily affects the blood vessels in the brain, leading to the characteristic narrowing and blockage. Research focuses on understanding the underlying mechanisms and finding more effective treatments for this condition.
• Scientific Research: Scientists continue to conduct research to uncover the genetic and environmental factors that contribute to Moyamoya disease. This research helps improve diagnosis, treatment, and management strategies for affected individuals.

By accessing PubMed, individuals can access a wealth of scientific articles and studies related to Moyamoya disease. This information is crucial for medical professionals, researchers, and patients seeking to learn more about this rare condition and develop effective interventions.

References

• Moyamoya Disease Information Page. National Institute of Neurological Disorders and Stroke. Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Moyamoya-Disease-Information-Page
• Moyamoya Disease. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/8312/moyamoya-disease
• Moyamoya Disease. OMIM. Retrieved from https://omim.org/entry/252350
• Nagata, I. (2008). Moyamoya disease: Epidemiology, clinical features, and diagnosis. Neurologia Medico-Chirurgica, 48(4), 197-201. doi: 10.2176/nmc.48.197
• Moyamoya. Mayo Clinic. Retrieved from https://www.mayoclinic.org/diseases-conditions/moyamoya-disease/symptoms-causes/syc-20355556
• Moyamoya Disease. National Institute of Neurological Disorders and Stroke. Retrieved from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Moyamoya-Disease-Fact-Sheet
• Moyamoya Disease. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=moyamoya+disease
• Moyamoya Disease. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?term=moyamoya+disease&Search=Apply&recrs=b&age_v=&gndr=&type=Intr&rslt=
• Moyamoya Disease. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/moyamoya-disease
• Moyamoya Disease. American Academy of Neurology. Retrieved from https://www.aan.com/tools-and-resources/patient-caregiver-resources/neurologic-disorders/moyamoya-disease/
• Moyamoya Disease. Moyamoya.com. Retrieved from http://www.moyamoya.com
• Moyamoya Disease. Moyamoya USA. Retrieved from https://www.moyamoya-usa.org/disease