Wilson disease, also known as hepatolenticular degeneration, is a rare inherited condition characterized by the accumulation of copper in various tissues of the body. It is caused by mutations in the ATP7B gene, which encodes a copper-transporting protein. This protein is responsible for making sure that copper is properly eliminated from the body. In individuals with Wilson disease, this process is disrupted, leading to the buildup of copper.

Wilson disease affects individuals from a young age, typically between the ages of 5 and 35. It can cause a wide range of symptoms, including liver disease, neurological problems, and psychiatric disturbances. If left untreated, it can be life-threatening. Therefore, early detection and treatment are crucial.

Testing for Wilson disease can be done through genetic testing, which looks for mutations in the ATP7B gene. Additionally, a blood test can measure the levels of copper and ceruloplasmin in the blood. Wilson disease is a rare condition, with an estimated frequency of 1 in 30,000 to 1 in 100,000 individuals worldwide.

Research and clinical trials are ongoing to learn more about this condition and improve treatment options. ClinicalTrials.gov provides information about ongoing studies and resources for patients and advocacy groups. Scientific articles and studies can be found on PubMed and OMIM, which are valuable resources for additional information on Wilson disease.

Frequency

Wilson disease is a rare genetic condition that affects young patients. It is caused by mutations in the ATP7B gene, which is responsible for copper transport in the body. Wilson disease is rare, with an estimated frequency of approximately 1 in 30,000 individuals worldwide.

Research and studies on Wilson disease and other copper-related diseases have helped us learn more about the condition and its causes. The ATP7B gene mutations lead to a build-up of copper in various tissues, such as the liver and brain. Excess copper can cause damage to these organs and result in various symptoms and complications.

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The genetic inheritance of Wilson disease follows an autosomal recessive pattern, meaning that an individual must inherit two mutated copies of the ATP7B gene to develop the disease. If a person inherits only one mutated copy, they may be a carrier of Wilson disease but not have any symptoms. Testing for ATP7B gene mutations can be done to confirm a diagnosis of Wilson disease.

Additional information and resources on Wilson disease can be found from various advocacy and support organizations, as well as scientific articles and research studies. Websites like OMIM, PubMed, and ClinicalTrials.gov provide names of scientific articles and clinical trials related to Wilson disease. These resources can help patients and healthcare professionals access more information about the disease, its symptoms, diagnosis, and treatment options.

In summary, Wilson disease is a rare genetic condition with an estimated frequency of approximately 1 in 30,000 individuals worldwide. Mutations in the ATP7B gene cause the build-up of copper in various tissues and organs, leading to symptoms and complications. Testing for ATP7B gene mutations can confirm a diagnosis of Wilson disease, and additional resources and support can be found through advocacy organizations and scientific research.

Causes

Wilson disease is a rare genetic condition that affects young individuals. It is caused by an inherited gene mutation that disrupts the proper functioning of a protein called ATP7B, which is involved in the transport of copper in the body. Without functioning ATP7B protein, copper accumulates in various tissues and organs, such as the liver, brain, and other tissues.

Wilson disease is associated with mutations in the ATP7B gene and is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition.

Research into the genetic causes of Wilson disease is ongoing, with studies identifying additional genes, such as the COMMD1 and ATOX1 genes, that may play a role in the development of the condition. These genes interact with ATP7B and are involved in copper metabolism.

Testing for Wilson disease typically involves genetic testing to identify mutations in the ATP7B gene. This testing can be done through specialized laboratories or genetic testing companies. Patients and their families can access resources and support through advocacy organizations that provide information and support for individuals with Wilson disease and their loved ones.

For additional information about the causes of Wilson disease, scientific articles and research studies can be found on resources such as PubMed, OMIM, and clinicaltrialsgov. These sources provide up-to-date information about ongoing research and clinical trials related to Wilson disease and other copper-related genetic diseases.

Learn more about the genes associated with Wilson disease

Wilson disease is a rare genetic condition that affects young individuals. It is caused by mutations in the ATP7B gene, which is responsible for the transport of copper in the body.

Understanding the genes associated with Wilson disease is crucial for diagnosing and treating this condition. The ATP7B gene provides instructions for making a protein that plays a critical role in the transport of copper. Mutations in this gene can lead to a buildup of copper in various tissues, causing the signs and symptoms of Wilson disease.

Research studies have provided valuable information about the genes associated with Wilson disease. The OMIM database and PubMed are scientific resources that provide articles, research studies, and other references about genetic diseases. They offer information about the inheritance patterns, frequency, and clinical manifestations of Wilson disease.

Additionally, the Genetic Testing Registry (GTR) and the Genetic and Rare Diseases Information Center (GARD) provide resources for genetic testing and support for patients and families affected by Wilson disease.

There are currently ongoing clinical trials listed on ClinicalTrials.gov for Wilson disease, which aim to explore new treatments and improve patient outcomes. These clinical trials provide an opportunity for individuals with Wilson disease to participate in the advancement of research and contribute to finding new treatments.

Furthermore, there are advocacy organizations like the Wilson Disease Association that offer support and resources for individuals with Wilson disease and their families. These organizations promote awareness, education, and research on Wilson disease, making a significant impact on the lives of those affected by this condition.

In conclusion, understanding the genes associated with Wilson disease is essential for its diagnosis and treatment. Genetic testing and research studies have provided valuable information about the ATP7B gene and its role in Wilson disease. Various resources like OMIM, PubMed, GTR, and GARD offer information and support for individuals and families affected by this rare condition. Ongoing clinical trials and advocacy organizations provide additional support and opportunities for research and advancement in Wilson disease.

Inheritance

Wilson disease is a genetic condition that results in the accumulation of copper in various tissues of the body. It is caused by mutations in the ATP7B gene, which is responsible for the production of a protein called copper-transporting ATPase. This protein is involved in removing excess copper from the body.

The inheritance of Wilson disease follows an autosomal recessive pattern. This means that an individual must inherit the mutated ATP7B gene from both parents in order to develop the disease. If a person inherits only one mutated gene, they will be a carrier of the condition but will not show any symptoms of the disease.

Studies have shown that the frequency of Wilson disease varies among different populations, with a higher prevalence in certain regions such as Central and Eastern Europe. Genetic testing can be done to confirm a diagnosis of Wilson disease and to identify the specific mutations in the ATP7B gene.

Additional resources for learning about Wilson disease and genetic testing include the Online Mendelian Inheritance in Man (OMIM) database, which provides information about the genetic basis of the disease, and PubMed, which offers scientific articles and clinical trial information. The Wilson Disease Association (www.wilsondisease.org), a rare disease advocacy organization, also provides support and resources for patients and their families.

It is important for individuals with Wilson disease and their family members to consider genetic testing to determine their carrier status and to inform reproductive decisions. Genetic counseling can provide guidance and support in understanding the inheritance of the disease and the available testing options.

Other Names for This Condition

Wilson disease, also called hepatolenticular degeneration, is a rare genetic disorder that affects the body’s ability to metabolize copper. This condition is caused by mutations in the ATP7B gene, which encodes a protein involved in transporting copper from the liver to other tissues.

Wilson disease is often diagnosed in young people, but it can affect individuals of any age. The symptoms can vary widely and may include liver disease, neurological problems, and psychiatric symptoms. If left untreated, Wilson disease can be life-threatening.

In addition to Wilson disease, there are other diseases associated with mutations in the ATP7B gene. These include copper-transporting ATPase disorders and Menkes disease.

To learn more about Wilson disease and other related conditions, you can visit the following resources:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the inheritance patterns and clinical features of Wilson disease.
• PubMed: PubMed is a database of scientific research articles. You can search for studies and articles about Wilson disease and its genetic causes.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. You can find information on ongoing research and testing for Wilson disease.
• Wilson Disease Association: The Wilson Disease Association is an advocacy and support organization for patients with Wilson disease. They provide information and resources for individuals and families affected by the condition.

By making use of these resources, you can learn more about the genetic causes, clinical features, and treatment options for Wilson disease and related conditions.

Additional Information Resources

Here are some additional resources where you can learn more about Wilson disease:

• OMIM (Online Mendelian Inheritance in Man) – OMIM provides a catalog of human genes and genetic disorders. Wilson disease, also called copper toxicosis, is associated with mutations in the ATP7B gene. OMIM provides more information on the genetics and inheritance patterns of this condition. You can find more information about Wilson disease on OMIM.org.
• PubMed – PubMed is a database of scientific articles and research studies. You can search for articles and studies on Wilson disease to learn more about the condition, its symptoms, diagnosis, and treatment. Visit pubmed.ncbi.nlm.nih.gov to access the database.
• ClinicalTrials.gov – ClinicalTrials.gov provides information on ongoing clinical trials and research studies. These studies can help researchers understand the causes and mechanisms of Wilson disease and develop new treatments. Visit clinicaltrials.gov to find clinical trials related to Wilson disease.

These resources provide valuable information for patients, healthcare providers, and researchers interested in Wilson disease. They can support genetic testing, provide scientific articles, and offer more information on this rare condition.

Genetic Testing Information

Genetic testing provides important information about the genes associated with a rare condition called Wilson disease. This genetic information helps in the diagnosis and management of the disease.

Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein that is involved in copper transport in the body. Mutations in the ATP7B gene result in the accumulation of copper in various tissues, leading to the signs and symptoms of Wilson disease.

The frequency of Wilson disease is estimated to be approximately 1 in 30,000 to 1 in 100,000 individuals worldwide. In some populations, such as those of Central and Eastern European descent, the frequency may be higher.

Genetic testing for Wilson disease can be done through various laboratories and genetic testing centers. These tests detect mutations in the ATP7B gene, confirming the diagnosis of Wilson disease in a patient.

Other genes associated with copper-transporting proteins have also been identified in rare diseases similar to Wilson disease. Genetic testing may also be used to differentiate between these related conditions.

Further information about genetic testing and other resources can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These websites provide additional references, research studies, and clinical trials related to Wilson disease and other rare diseases.

In addition to genetic testing, support and advocacy organizations can also provide valuable information and resources for patients and families affected by Wilson disease. These organizations may offer support groups, educational materials, and assistance in finding clinical trials or research studies.

References:

• “Wilson Disease.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/wilson-disease.
• “Wilson Disease.” National Organization for Rare Disorders (NORD), rarediseases.org/rare-diseases/wilson-disease/.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides articles on genetic and rare diseases. One such rare disease is Wilson disease, also called hepatolenticular degeneration.

Wilson disease is a genetic condition characterized by the accumulation of copper in the tissues of the body. It is caused by mutations in the ATP7B gene, which encodes a protein involved in copper transportation. These mutations lead to impaired copper transport, resulting in the buildup of copper in various tissues and organs, such as the liver and brain.

Common symptoms of Wilson disease include liver disease, neurological symptoms, and psychiatric manifestations. It typically presents in the teenage years or early adulthood, making early testing and diagnosis crucial.

The GARD website offers resources for patients and their families, including information about the disease, genetic testing, and support organizations. It also provides links to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed references, where you can learn more about the genetic and scientific aspects of Wilson disease.

In addition, GARD offers information about ongoing research and clinical trials related to Wilson disease. ClinicalTrials.gov, a database of clinical trials, lists studies that are investigating new treatments and approaches for managing the disease. This information can be useful for patients and their healthcare providers when considering treatment options.

GARD serves as an advocacy center for rare diseases, striving to increase awareness and support for patients and their families. It aims to provide reliable and up-to-date information on genetic and rare diseases to the public, healthcare professionals, and researchers.

If you or a loved one has been diagnosed with Wilson disease or any other rare condition, the Genetic and Rare Diseases Information Center can be a valuable resource to learn more about the condition, find support, and stay updated on the latest research and treatment options.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Wilson disease, there are several patient support and advocacy resources available to provide additional information and assistance. These resources can help you navigate the genetic testing process, learn more about the condition, connect with other individuals and families affected by Wilson disease, and stay updated on the latest research and clinical trials.

• Wilson Disease Association (WDA): The Wilson Disease Association is a non-profit organization dedicated to improving the lives of individuals and families affected by Wilson disease. Their website provides comprehensive information about the disease, including its causes, symptoms, diagnosis, and treatment options. The WDA also offers support groups, educational materials, and resources for affected individuals and their families. You can visit their website at www.wilsondisease.org for more information.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Wilson disease provides detailed information about the Wilson disease gene, including its location, structure, function, and associated mutations. You can find the OMIM entry for Wilson disease at www.omim.org/entry/277900.
• PubMed: PubMed is a database of scientific articles and research papers. It is a valuable resource for finding scientific studies and publications related to Wilson disease. By searching for keywords such as “Wilson disease” or “copper-transporting ATPase,” you can access a wealth of information about the genetics, diagnosis, and management of the condition. You can access PubMed at www.ncbi.nlm.nih.gov/pubmed.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials conducted around the world. By searching for “Wilson disease” on ClinicalTrials.gov, you can find information about ongoing clinical trials related to the disease. These trials may offer opportunities for participation and access to experimental treatments. You can visit the ClinicalTrials.gov website at www.clinicaltrials.gov.
• European Reference Network on Rare Hepatological Diseases (ERN RARE-LIVER): ERN RARE-LIVER is a network of healthcare professionals specializing in the diagnosis and management of rare liver diseases, including Wilson disease. Their website provides information about the network, its member centers, and resources for patients and healthcare providers. You can visit their website at www.ern-rare-liver.eu.

These resources can be invaluable for individuals and families affected by Wilson disease. They provide access to information, support, and opportunities for participation in research and clinical trials. By utilizing these resources, you can gain a better understanding of the condition and connect with others who share similar experiences.

Research Studies from ClinicalTrials.gov

The Wilson disease is a rare genetic condition that affects the body’s ability to properly process and eliminate copper. This accumulation of copper can cause damage to various tissues and organs, especially the liver and brain. ClinicalTrials.gov is a resource that provides information on ongoing clinical trials, research studies, and publications related to Wilson disease.

Research studies listed on ClinicalTrials.gov focus on understanding the causes, inheritance patterns, and potential treatments for Wilson disease. They aim to improve the clinical understanding of this condition and develop better strategies for diagnosis, management, and support for patients.

ClinicalTrials.gov is a centralized online database providing information on various clinical trials related to Wilson disease and other genetic diseases. It includes references to scientific articles, genetic testing centers, advocacy resources, and more. Researchers and medical professionals can access this database to find relevant studies and clinical trials on Wilson disease.

Studies listed on ClinicalTrials.gov may investigate the genes and proteins involved in copper metabolism, the frequency of certain mutations in different populations, and the association of Wilson disease with other diseases. They may also focus on developing new diagnostic methods and testing approaches for Wilson disease.

Information from ClinicalTrials.gov can support the research community, healthcare professionals, and patients in learning more about Wilson disease, finding clinical trials for testing possible treatments, and accessing additional resources. It can also contribute to the advancement of scientific understanding of Wilson disease and the development of more effective therapies.

To learn more about Wilson disease and the ongoing studies related to it, you can visit the ClinicalTrials.gov website and search for “Wilson disease” in the search bar. This will provide you with a catalog of clinical trials and research studies that are currently being conducted in this field.

In conclusion, ClinicalTrials.gov is a valuable resource that provides information on research studies, clinical trials, and publications related to Wilson disease. It serves as a platform for researchers, healthcare professionals, and patients to access important information and contribute to the scientific understanding and management of this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and diseases. It offers a catalog of genetic diseases, including Wilson disease, a rare condition associated with copper-transporting proteins.

Wilson disease, also known as Wilson’s disease, is a genetic disorder that affects young individuals. It is caused by mutations in the ATP7B gene, which is responsible for encoding a protein involved in copper transport. The condition results in the accumulation of copper in various tissues, leading to liver and neurological problems.

OMIM’s catalog of genes and diseases includes a wide range of resources for patients, healthcare professionals, and researchers. It offers clinical information, scientific articles, and references from PubMed and other sources. OMIM also provides additional resources, such as advocacy and support organizations, making it a valuable tool for those learning about Wilson disease and other genetic conditions.

Patients and healthcare professionals can use OMIM to access information about the clinical features, inheritance patterns, and genetic testing options for Wilson disease. The catalog includes studies and research on the frequency of the disease in different populations, as well as the associated genes and other diseases.

OMIM’s catalog also allows users to search for clinical trials related to Wilson disease and other genetic conditions. By exploring the database’s clinicaltrials.gov section, patients and researchers can find ongoing or upcoming studies and learn about opportunities for participation or collaboration.

In summary, OMIM’s catalog of genes and diseases provides a wealth of information on Wilson disease and other rare genetic conditions. Its resources, including clinical information, scientific research, and genetic testing options, make it an essential tool for understanding and managing these diseases.

Scientific Articles on PubMed

PubMed is a resource that provides access to a vast collection of scientific articles. These studies cover a wide range of topics, including Wilson disease. Here are some key resources and articles available on PubMed:

• Wilson Disease Gene: One of the main focuses of these articles is the genetic aspect of Wilson disease. Researchers have identified the genes responsible for this condition, which include ATP7B and COMMD1.
• Gene Inheritance: Studies on Wilson disease have explored the inheritance patterns of the associated genes. This information helps in understanding how the disease is passed down through generations.
• Patient Information: PubMed contains articles that provide valuable information for patients and their families. These resources offer insights into the causes, symptoms, and treatment options for Wilson disease.
• Copper-Transporting Protein: Research on Wilson disease focuses on the dysfunction of the copper-transporting protein encoded by the ATP7B gene. Understanding this protein’s role is essential in developing effective treatments.
• Clinical Trials: PubMed lists ongoing clinical trials related to Wilson disease. These trials aim to test new treatments, therapies, and diagnostic methods for the condition.
• Rare Diseases: Wilson disease is classified as a rare disease, and PubMed provides resources and articles on other rare diseases as well. This helps in gaining a broader perspective on these conditions.

By exploring the articles and resources available on PubMed, individuals can learn more about Wilson disease, its causes, testing methods, and possible treatments. This information can support both patients and healthcare providers in better understanding and managing this condition.

References:

1. “Wilson Disease – Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health. Retrieved from https://ghr.nlm.nih.gov/condition/wilson-disease.
2. “Wilson Disease – OMIM.” Johns Hopkins University. Retrieved from https://omim.org/entry/277900.
3. “Wilson Disease – ClinicalTrials.gov.” U.S. National Library of Medicine, National Institutes of Health. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Wilson+Disease.
4. “Wilson Disease – Wilson Disease Association.” Wilson Disease Association. Retrieved from https://www.wilsondisease.org/.

References

• PubMed – A comprehensive database of scientific articles
• Online Mendelian Inheritance in Man (OMIM) – Provides information on genetic disorders
• ClinicalTrials.gov – Catalog of clinical research studies
• Copper Transporting – Information about copper transporting proteins
• Wilson Disease Association – Advocacy and support resources
• ClinVar – Clinical testing information on Wilson disease

In addition to genetic causes, Wilson’s disease can also occur due to other rare genetic disorders involving copper transport proteins. More information on the genes associated with Wilson’s disease can be found in scientific articles and databases such as OMIM and PubMed.

Clinical trials and research studies are ongoing to learn more about this rare condition and its effects on the body. ClinicalTrials.gov is a valuable resource for finding information on current clinical trials related to Wilson’s disease.

Testing for Wilson’s disease can be done through genetic testing to detect mutations in the specific genes involved in copper handling. One such gene is called ATP7B. Other tests may include blood and urine tests to measure copper levels and evaluate liver function.

For more information about Wilson’s disease, including symptoms, diagnosis, and treatment options, it is recommended to consult with a healthcare professional or a specialized center for liver diseases.