Sturge-Weber syndrome

Published Categorized as Genetics
Sturge-Weber syndrome

Sturge-Weber syndrome is a rare genetic condition that is characterized by the presence of a hemangioma, a type of abnormal blood vessel growth, on the face and/or within the brain. It can affect various organs and functions in the body, leading to a range of symptoms and complications.

The exact causes of Sturge-Weber syndrome are not yet fully understood, but it is believed to be caused by genetic abnormalities. Additional research is ongoing to learn more about the specific genes and genetic inheritance patterns associated with this syndrome. PubMed and OMIM are valuable resources for finding scientific articles and studies on Sturge-Weber syndrome, as well as for genetic testing information and patient advocacy and support resources.

ClinicalTrials.gov is another valuable resource for information on ongoing research studies and clinical trials for Sturge-Weber syndrome. These studies aim to further understand the condition, improve treatment options, and provide support for affected individuals and their families.

Sturge-Weber syndrome can cause a range of symptoms and complications, including pink or red birthmarks on the face, vision problems, seizures, and increased pressure within the brain. Calcification can also occur within the affected blood vessels, leading to further complications.

It is important to consult with a healthcare professional for proper diagnosis, genetic testing, and management of Sturge-Weber syndrome. They can provide accurate information and resources to support individuals and families affected by this rare condition.

Frequency

Sturge-Weber syndrome is a rare neurocutaneous disorder. Neurocutaneous disorders are a group of diseases that cause abnormalities in the brain, spine, and skin. Sturge-Weber syndrome affects approximately one in every 20,000 to 50,000 individuals.

Advocacy organizations such as the Sturge-Weber Foundation and the Sturge-Weber Syndrome Community provide support, resources, and information for individuals and families affected by the condition.

The inheritance pattern of Sturge-Weber syndrome is not fully understood. Most cases occur sporadically, meaning they are not inherited from parents. However, a small percentage of cases are thought to have a genetic cause and may be inherited in an autosomal dominant manner. Research is ongoing to better understand the genetic factors involved in Sturge-Weber syndrome.

Sturge-Weber syndrome is characterized by the presence of a birthmark called a port-wine stain on the face, typically on one side. This birthmark is caused by an overgrowth of blood vessels in the skin. The affected blood vessels can also extend into the brain, causing abnormal blood vessel formation and calcification. These brain abnormalities can lead to seizures, intellectual disabilities, and vision problems.

Studies have shown that individuals with Sturge-Weber syndrome have an increased risk of developing other medical conditions, such as glaucoma, high blood pressure, and developmental delays. Regular monitoring and testing are important for early detection and management of these associated conditions.

ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies and clinical trials related to Sturge-Weber syndrome. Through these studies, researchers aim to improve understanding of the causes, underlying genetic mechanisms, and potential treatments for the condition.

Genetic testing can be used to identify certain genetic mutations associated with Sturge-Weber syndrome. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including Sturge-Weber syndrome. OMIM provides detailed information on the genes and mutations associated with the condition.

For more information about Sturge-Weber syndrome and support resources, individuals and families can refer to scientific articles, references from PubMed, and the Sturge-Weber Foundation and Sturge-Weber Syndrome Community websites.

Causes

The exact cause of Sturge-Weber syndrome is unknown, but it is believed to be due to a somatic mutation in the GNAQ gene. This gene provides instructions for making a protein that is involved in transmitting signals within cells. Somatic mutations occur after conception and are not inherited from a parent.

Sturge-Weber syndrome is not inherited in the typical sense, meaning it is not passed down from generation to generation. However, individuals with this syndrome have a sporadic mutation that occurs very early during development. This mutation affects some cells in the body but not others, leading to the characteristic symptoms and features of the syndrome.

The specific cause of the GNAQ gene mutation is not yet known. It is also unclear why the mutation leads to the development of vascular abnormalities, such as the port-wine stain birthmark and the abnormal blood vessels in the brain that are seen in Sturge-Weber syndrome.

Research on Sturge-Weber syndrome is ongoing, and more information about its causes and genetic factors is being gathered. Genetic testing for this rare condition is available, and it can provide valuable information to patients and their families.

For more information on the genetic basis of Sturge-Weber syndrome, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides a catalog of genes and genetic disorders. OMIM is a valuable resource for finding references to scientific articles and studies on this condition.

Learn more about the gene associated with Sturge-Weber syndrome

Sturge-Weber syndrome is a rare genetic condition that is characterized by the presence of a port-wine stain birthmark, vision problems, and neurological abnormalities. Although the exact cause of Sturge-Weber syndrome is unknown, recent research has identified a gene that is associated with the condition.

The gene associated with Sturge-Weber syndrome is called “GNAQ.” This gene provides instructions for making a protein that is involved in transmitting signals within cells. It plays a crucial role in the development of blood vessels and the regulation of blood pressure within the body.

Studies have shown that a specific mutation in the GNAQ gene can lead to the development of Sturge-Weber syndrome. This mutation causes an overgrowth of blood vessels in the affected areas, such as the skin, eyes, and brain. This overgrowth results in the characteristic symptoms of the condition, including the port-wine stain birthmark, vision problems, and neurological abnormalities.

Genetic testing can be done to identify the GNAQ gene mutation in patients suspected of having Sturge-Weber syndrome. This testing can offer confirmation of the diagnosis and provide additional information about the inheritance pattern of the condition. It can also be helpful in genetic counseling and family planning.

There are several resources available for individuals and families affected by Sturge-Weber syndrome. The Sturge-Weber Foundation, a non-profit advocacy and support organization, provides information, scientific research updates, and resources for patients and their families. ClinicalTrials.gov offers information on ongoing clinical trials and studies related to Sturge-Weber syndrome.

Scientific articles published on websites such as PubMed and OMIM can provide in-depth information about the genetic causes and function of the GNAQ gene in Sturge-Weber syndrome. These articles can be a valuable source of information for healthcare professionals and researchers.

In conclusion, Sturge-Weber syndrome is a rare genetic condition that is associated with a specific gene mutation called GNAQ. Genetic testing can confirm the diagnosis and provide additional information about the condition. Resources such as advocacy organizations, clinical trials, and scientific research articles can support patients, families, and healthcare professionals in understanding and managing this complex condition.

Inheritance

The inheritance pattern of Sturge-Weber syndrome is not fully understood, but it is believed to be caused by genetic abnormalities. Several genes have been associated with this rare syndrome, including the GNAQ gene. This gene is responsible for encoding a protein that plays a role in the function of blood vessels and is also associated with other rare diseases. Genetic testing can be done to identify mutations in this gene, which may help with the diagnosis of Sturge-Weber syndrome.

See also  Dopamine transporter deficiency syndrome

In most cases, Sturge-Weber syndrome occurs sporadically and is not inherited from a parent. However, rare cases have been reported where the syndrome is passed down from a parent to a child. The exact frequency of inheritance is not known, but it is believed to be very low.

There are no known environmental causes of Sturge-Weber syndrome. It is believed to be a genetic condition that is present from birth. The syndrome is not contagious and cannot be acquired later in life.

Research studies and clinical trials are ongoing to learn more about the causes and inheritance of Sturge-Weber syndrome. The National Institutes of Health’s Genetic and Rare Diseases Information Center and the Online Mendelian Inheritance in Man (OMIM) catalog are valuable resources for more information on the genetics and inheritance of this condition.

Advocacy organizations, such as the Sturge-Weber Foundation, provide support and resources for patients and families affected by this syndrome. They also fund research studies to further understand the syndrome and develop new treatment options.

Additional information on the inheritance of Sturge-Weber syndrome can be found in scientific articles and references from PubMed, a database of biomedical literature.

Other Names for This Condition

Sturge-Weber syndrome is also known by several other names:

  • Encephalofacial angiomatosis
  • Encephalotrigeminal angiomatosis
  • Facial hemangioma syndrome
  • SWS

These names are used interchangeably and refer to the same rare neurologic condition that is characterized by the presence of facial birthmarks called port-wine stains, abnormalities in blood vessels in the brain, and sometimes in other parts of the body.

Sturge-Weber syndrome gets its name from the last names of the researchers who initially described the condition in the late 19th century – William Allen Sturge and Frederick Parkes Weber.

The port-wine stains, which are caused by abnormal blood vessels in the skin, typically appear as pink or red patches on the face. They are usually present at birth and persist throughout a patient’s lifetime.

In addition to the port-wine stains, individuals with Sturge-Weber syndrome can also experience seizures, developmental delay, and certain eye abnormalities that may affect their vision. Some patients may have calcification within the brain due to abnormal blood vessel function.

The exact cause of Sturge-Weber syndrome is not yet fully understood, but it is believed to be associated with genetic mutations or changes in genes. Research has shown that mutations in the GNAQ gene, which provides instructions for making a protein involved in the regulation of cell growth and division, may play a role in the development of Sturge-Weber syndrome.

There is currently no cure for Sturge-Weber syndrome, but there are treatments available to manage the symptoms and improve the quality of life for patients. Treatment options include medications to control seizures, surgery to remove or reduce the size of port-wine stains, and other supportive therapies.

For more information about Sturge-Weber syndrome, its causes, symptoms, and treatment options, you can visit the Sturge-Weber Foundation or other reliable resources such as articles in scientific journals like OMIM and PubMed.

References:

  1. Sturge-Weber syndrome. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6707/sturge-weber-syndrome

  2. Sturge-Weber Syndrome. OMIM. Retrieved from https://www.omim.org/entry/185300

  3. Sturge-Weber Syndrome (Neurol). PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/31334813/

  4. Additional information and resources about Sturge-Weber syndrome. Sturge-Weber Foundation. Retrieved from https://www.sturge-weber.org/for-patients-resources

Additional Information Resources

  • Association for Sturge-Weber Syndrome (ASWS) – A non-profit advocacy group that provides support and resources for individuals and families affected by Sturge-Weber syndrome. Visit their website at www.asws.org to learn more about the condition.
  • Sturge-Weber Foundation – A organization dedicated to funding research and providing support for individuals with Sturge-Weber syndrome. Their website, www.sturge-weber.org, offers information on the syndrome and resources for patients and families.
  • Genetic and Rare Diseases Information Center – A service of the National Institute of Health, offering information on Sturge-Weber syndrome and other rare genetic diseases. Visit their website at rarediseases.info.nih.gov for more information.
  • National Center for Advancing Translational Sciences – This center provides resources and information on clinical trials related to Sturge-Weber syndrome. Visit www.clinicaltrials.gov to find studies and trials that are currently recruiting for this condition.
  • Pubmed – A free database of scientific articles, which provides additional information about Sturge-Weber syndrome. Search for keywords such as “Sturge-Weber syndrome” or “encephalotrigeminal angiomatosis” to find relevant articles and studies.
  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive database of human genes and genetic disorders. Visit www.omim.org to find information on the genetic causes of Sturge-Weber syndrome.

Genetic Testing Information

Genetic testing plays a vital role in understanding and diagnosing Sturge-Weber Syndrome. By identifying specific genes and their abnormalities associated with this condition, researchers and clinicians can learn more about its causes, inheritance patterns, and potential treatment options. Here are some key points about genetic testing for Sturge-Weber Syndrome:

  • Frequency: Sturge-Weber Syndrome is a rare condition, affecting approximately 1 in 20,000 to 50,000 individuals worldwide.
  • Genes: Studies have identified three main genes associated with Sturge-Weber Syndrome: GNAQ, GNA11, and MAP2K1.
  • Inheritance: Sturge-Weber Syndrome is typically not inherited from parents and occurs sporadically. However, in some cases, it can be inherited in an autosomal dominant manner.
  • Genetic Abnormalities: The identified genes in Sturge-Weber Syndrome have been found to have specific mutations or abnormalities that affect their function.
  • Additional Abnormalities: Sturge-Weber Syndrome can also be associated with other genetic abnormalities and conditions, such as Klippel-Trénaunay Syndrome and Phakomatosis Pigmentovascularis.

Genetic testing for Sturge-Weber Syndrome can provide patients and their families with valuable information about the condition, its potential causes, and its inheritance patterns. It can also assist in early diagnosis, which is crucial for developing appropriate treatment plans and managing associated symptoms.

For more information about genetic testing and Sturge-Weber Syndrome, the following resources can be helpful:

  • Scientific articles and studies available on PubMed
  • The Online Mendelian Inheritance in Man (OMIM) catalog
  • The Sturge-Weber Foundation, an advocacy and support center for patients and families
  • ClinicalTrials.gov for information on ongoing research and clinical trials

By staying informed about genetic testing and its role in understanding Sturge-Weber Syndrome, individuals can actively contribute to the advancement of research and treatment options for this rare neurological condition.

Genetic and Rare Diseases Information Center

If you want to learn more about Sturge-Weber syndrome, there are several reliable sources of information available. One such resource is the Genetic and Rare Diseases Information Center, which provides valuable information about rare genetic disorders.

At the center, you can find comprehensive information on a range of rare diseases, including Sturge-Weber syndrome. They provide detailed articles about the condition, its symptoms, diagnosis, and treatment options. They also list additional resources for further research and support.

The center offers a wealth of scientific information on Sturge-Weber syndrome, including links to relevant studies and articles from reputable sources such as PubMed and OMIM (Online Mendelian Inheritance in Man). You can explore these resources to learn more about the genetic causes of the condition, the frequency of associated abnormalities, and the impact on vision and neurologic function.

In addition to scientific resources, the center provides resources for patients and families affected by Sturge-Weber syndrome. They offer information on genetic testing and inheritance patterns, as well as support and advocacy groups that can provide assistance and connect you with others affected by the condition.

If you are interested in participating in research or clinical trials related to Sturge-Weber syndrome, the center can provide information about ongoing studies and how you can get involved. They also maintain a catalog of genes associated with the condition and provide information on genetic testing options.

In summary, the Genetic and Rare Diseases Information Center is a valuable resource for anyone seeking information on rare genetic conditions like Sturge-Weber syndrome. It offers a wealth of information on the condition, including scientific research, resources for patients and families, and information on genetic testing and inheritance patterns. Visit their website to learn more and access their comprehensive resources.

See also  SLC22A12 gene

Patient Support and Advocacy Resources

Patients diagnosed with Sturge-Weber syndrome and their families often require support and advocacy resources to navigate the challenges associated with this rare genetic condition. Here are some resources that provide additional information, support, and help:

  • Sturge-Weber Foundation: This foundation provides support and resources for individuals and families affected by Sturge-Weber syndrome. They offer educational materials, patient support networks, and access to clinical trials and research studies. Visit their website here for more information.
  • National Organization of Rare Diseases (NORD): NORD is a patient advocacy organization dedicated to helping individuals with rare diseases. They provide information on Sturge-Weber syndrome, including resources for patients and families, advocacy tools, and assistance in finding healthcare professionals familiar with rare diseases. Visit their website here to learn more.
  • Genetic and Rare Diseases (GARD) Information Center: GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides resources and information on genetic and rare diseases. Their website offers a comprehensive overview of Sturge-Weber syndrome, including symptoms, inheritance patterns, and available treatments. Access their resources here.
  • PubMed and OMIM: PubMed and OMIM are valuable scientific databases that contain a wealth of research articles and genetic information related to Sturge-Weber syndrome. These platforms can be accessed to learn more about the genetics, causes, and associated abnormalities of the condition. Search for articles and studies on PubMed here, and explore genetic information on OMIM here.
  • Sturge-Weber Syndrome Community: This online community provides a platform for individuals and families affected by Sturge-Weber syndrome to connect, share experiences, and find support. Join the community here to connect with others facing similar challenges.

These resources offer valuable information, support, and advocacy for individuals and families affected by Sturge-Weber syndrome. They can help navigate the complex medical and social challenges associated with this rare condition and provide a sense of community and understanding.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for finding information about research studies related to Sturge-Weber syndrome. It provides a comprehensive listing of ongoing and completed trials, offering valuable insights into the latest advancements in the field. Here are some key findings from recent research studies:

  • Advocacy: Many studies focus on the advocacy and support for patients with Sturge-Weber syndrome. These studies aim to improve the lives of patients through increased awareness and access to resources.
  • Genes: Research studies have identified multiple genes associated with Sturge-Weber syndrome. These genes play a significant role in the development of the condition and provide insight into its underlying causes.
  • Genetic Testing: Genetic testing is an essential tool in diagnosing Sturge-Weber syndrome. Studies explore the frequency and effectiveness of genetic testing and its role in identifying the specific genetic abnormalities associated with the condition.
  • Vision Abnormalities: Sturge-Weber syndrome can cause various vision abnormalities. Studies investigate the impact of the condition on visual function and explore potential treatment options to improve vision outcomes.
  • Hemangioma: Hemangioma is a common feature of Sturge-Weber syndrome. Research studies focus on understanding the causes of hemangioma and explore therapeutic interventions to manage its growth and associated complications.
  • Calcification: Calcification of abnormal blood vessels is another characteristic of Sturge-Weber syndrome. Studies aim to understand the mechanisms behind calcification and its impact on patient outcomes.

These research studies provide valuable scientific information about Sturge-Weber syndrome and contribute to our understanding of the condition. They offer hope for improved diagnosis, treatment, and management of this rare genetic disorder. For more detailed information about these studies, you can visit the ClinicalTrials.gov website and search for specific articles and references related to Sturge-Weber syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information about the genetic causes and associated diseases of Sturge-Weber syndrome. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genetic conditions and their associated genes.

Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis, is a rare genetic disorder characterized by abnormal blood vessel development in the skin, brain, and other organs. It is caused by a mutation in the GNAQ gene. The syndrome is associated with a port-wine stain birthmark on the face, neurological abnormalities, and glaucoma.

The Catalog of Genes and Diseases from OMIM provides additional information on the GNAQ gene and other genes that may be associated with Sturge-Weber syndrome. It also includes information on the clinical manifestations and inheritance patterns of the syndrome and other rare diseases.

The OMIM database supports research on the genetic causes and functions of genes associated with Sturge-Weber syndrome. It provides scientific articles, references, and other resources for further learning and research. The database also includes information on ongoing clinical trials related to Sturge-Weber syndrome and advocacy organizations that support patients with this condition.

Within the Catalog of Genes and Diseases from OMIM, you can find information on the frequency of Sturge-Weber syndrome and how it is diagnosed through genetic testing. It also includes information on associated abnormalities, such as calcification in the brain, and vision and blood pressure abnormalities.

For more information on Sturge-Weber syndrome and related genes and diseases, you can visit the OMIM database or search for articles on PubMed.

OMIM resources PubMed resources
OMIM entry for Sturge-Weber syndrome PubMed articles on Sturge-Weber syndrome
OMIM entry for GNAQ gene PubMed articles on GNAQ gene
OMIM entry for associated genes with Sturge-Weber syndrome PubMed articles on associated genes with Sturge-Weber syndrome
OMIM entry for related diseases PubMed articles on related diseases

Scientific Articles on PubMed

PubMed is a valuable resource for scientific articles on Sturge-Weber syndrome. It provides a wealth of information on this rare condition, supporting research and providing additional resources for patients and healthcare professionals.

Sturge-Weber syndrome is a rare genetic disorder that is thought to affect about 1 in every 20,000 to 50,000 people. It is primarily characterized by a port-wine stain birthmark on the face, along with neurological abnormalities and sometimes other associated abnormalities such as glaucoma or calcification of the brain’s blood vessels.

Researchers have identified three genes that may play a role in the development of Sturge-Weber syndrome. These genes are responsible for the function and development of blood vessels in the body. Abnormalities in these genes may cause the blood vessels in the affected area to become dilated and form a hemangioma.

There are various scientific articles available on PubMed that provide more information about the genetics and inheritance of Sturge-Weber syndrome. These articles discuss the frequency of the condition, associated diseases, and the impact of the syndrome on vision and neurological function.

Patients and healthcare professionals can access these articles to learn more about the condition, its causes, and potential treatment options. There are also resources available on PubMed that provide information about clinical trials and genetic testing for Sturge-Weber syndrome.

In addition to PubMed, there are other advocacy and support resources available for patients and families affected by Sturge-Weber syndrome. The Sturge-Weber Foundation, for example, provides information and support for patients and families affected by the condition. The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource for genetic information on Sturge-Weber syndrome.

In conclusion, scientific articles available on PubMed provide valuable information and support for research on Sturge-Weber syndrome. These articles discuss the rare condition and its associated abnormalities, genetics, and potential treatment options. PubMed is a valuable resource for patients, healthcare professionals, and researchers seeking information on this condition.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.