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Menkes syndrome, also known as Menkes disease or Menkes kinky hair syndrome, is a rare genetic disorder that affects copper metabolism in the body. It was first described by John H. Menkes, an American pediatric neurologist, in 1962. Menkes syndrome is inherited in an X-linked recessive manner, meaning that it primarily affects males and is passed down from carrier females.

This condition is caused by mutations in the ATP7A gene, which is responsible for the production of a protein that transports copper around the body. Without this protein, copper cannot be properly utilized by cells in various tissues and organs. As a result, affected individuals may have copper deficiencies that can lead to severe neurological and developmental abnormalities.

Menkes syndrome is characterized by a wide range of clinical features, including sparse, kinky hair, growth retardation, muscle weakness, seizures, and intellectual disability. In addition to these physical and neurological symptoms, individuals with Menkes syndrome may also have distinctive facial features, such as a large forehead and a pointed chin.

Diagnosing Menkes syndrome can be challenging due to its rarity and overlap with other genetic conditions. Genetic testing, specifically sequencing the ATP7A gene, is the most reliable method for confirming a diagnosis. It is important to note that early detection and intervention are crucial for optimizing outcomes in individuals with Menkes syndrome.

Currently, there is no cure for Menkes syndrome. Treatment mainly involves copper supplementation, which can help alleviate some of the symptoms. Additionally, supportive care and therapy, such as physical, occupational, and speech therapy, may be beneficial in managing the developmental and neurological aspects of the condition.

For more information about Menkes syndrome, support resources, research studies, and clinical trials, please visit the Menkes Foundation website, clinicaltrials.gov, the Genetic and Rare Diseases Information Center (GARD), OMIM, and PubMed for scientific articles and references associated with Menkes syndrome and related genes.

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Frequency

In scientific literature, Menkes syndrome is considered a rare genetic condition. The exact frequency of Menkes syndrome is not well established, but it is estimated to occur in approximately 1 in 50,000 to 250,000 live births.

Available resources, such as the Menkes Syndrome Research Center and the Online Mendelian Inheritance in Man (OMIM) catalog, provide additional information on the frequency of Menkes syndrome and other related genetic diseases. These resources support research and advocacy efforts for individuals with Menkes syndrome and their families.

The Menkes Syndrome Research Center and OMIM catalog have compiled a comprehensive list of genes associated with Menkes syndrome and other related copper-containing diseases. They also offer information on the molecular studies and inheritance patterns associated with this rare condition.

For more information on the frequency of Menkes syndrome and associated diseases, references to scientific articles, clinical trials, and PubMed can be consulted. These sources provide valuable insights into the prevalence, causes, and clinical characteristics of Menkes syndrome and related conditions.

Causes

Menkes syndrome, also known as Menkes disease, is caused by mutations in the ATP7A gene. This gene provides instructions for making a protein that is responsible for transporting copper throughout the body. Copper is an essential nutrient that plays a crucial role in the development and function of various organs and systems.

In individuals with Menkes syndrome, the ATP7A gene is altered, affecting the function of the protein it produces. As a result, copper is not properly transported and distributed throughout the body, leading to a copper deficiency. This deficiency can cause a wide range of symptoms and health problems associated with Menkes syndrome.

Menkes syndrome follows an X-linked recessive inheritance pattern, which means that the condition primarily affects males. Females who carry a single copy of the mutated ATP7A gene are typically asymptomatic, as they have a second, normal copy of the gene that compensates for the mutation. However, in rare cases, females can also experience symptoms of Menkes syndrome.

The frequency of Menkes syndrome is estimated to be around 1 in 100,000 to 1 in 250,000 live births. The condition is more commonly seen in males due to the X-linked inheritance pattern.

Menkes syndrome is not the only genetic disease associated with copper metabolism. There are other rare disorders, such as Wilson disease, that also affect copper transport and utilization in the body. However, each disorder has distinct characteristics and underlying genetic mutations.

To learn more about Menkes syndrome and other rare diseases, the following resources are available:

  • The Online Mendelian Inheritance in Man (OMIM) website provides detailed information on the ATP7A gene, Menkes syndrome, and other related conditions. (Website: https://omim.org)
  • The National Center for Advancing Translational Sciences (NCATS) offers additional information and support for patients and families affected by Menkes syndrome. (Website: https://ncats.nih.gov)
  • The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information on Menkes syndrome and offers resources for patients and their families. (Website: https://rarediseases.info.nih.gov)
  • The Menkes Foundation is an advocacy and support organization that promotes awareness and research for Menkes syndrome. (Website: https://www.menkesfoundation.org)

Ongoing scientific research and clinical trials are continuously conducted to further understand the molecular basis of Menkes syndrome and develop potential treatments. The clinicaltrials.gov website provides information on current studies and trials related to Menkes syndrome. (Website: https://clinicaltrials.gov)

For testing and confirmation of Menkes syndrome in a patient, molecular genetic testing is available. Such testing can identify specific mutations in the ATP7A gene that are associated with the condition.

For more information on Menkes syndrome and related genetic diseases, scientific articles and references can be found in the genetic research field and various medical journals, such as the American Journal of Medical Genetics and the Journal of Clinical Genetics.

In conclusion, Menkes syndrome is a rare genetic disorder caused by mutations in the ATP7A gene, which affects the transport and distribution of copper in the body. The condition follows an X-linked recessive inheritance pattern and primarily affects males. Other rare diseases associated with copper metabolism exist, each with their own distinct characteristics and genetic mutations. Various resources, support organizations, and scientific research are available to learn more about Menkes syndrome and related conditions.

See also  Tangier disease

Learn more about the gene associated with Menkes syndrome

Menkes syndrome is a rare genetic condition that affects copper metabolism in the body. It is caused by mutations in the ATP7A gene, which is located on the X chromosome. The ATP7A gene provides instructions for creating a protein that is involved in the transport of copper from the intestines to other parts of the body.

Copper is an essential mineral that is necessary for the proper functioning of many enzymes in the body. In Menkes syndrome, the ATP7A gene mutations disrupt the normal distribution and metabolism of copper, leading to copper deficiency in various tissues and organs.

If you would like to learn more about the ATP7A gene and its association with Menkes syndrome, there are several resources available:

  • Online resources: Websites such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews provide comprehensive information about Menkes syndrome, including details about the ATP7A gene and its inheritance pattern.
  • Scientific articles: PubMed is a valuable resource for accessing scientific articles and studies related to Menkes syndrome and the ATP7A gene. These articles provide in-depth information about the genetic, molecular, and clinical aspects of the condition.
  • ClinicalTrials.gov: This online database provides information about ongoing clinical trials that are investigating potential treatments or interventions for Menkes syndrome. These trials may provide additional insight into the genetics of the condition.
  • Support and advocacy organizations: Organizations such as the Menkes Foundation and the National Organization for Rare Disorders (NORD) provide support, resources, and information for individuals and families affected by Menkes syndrome. They can help connect you with other individuals and families facing similar challenges.

By learning more about the ATP7A gene and its role in Menkes syndrome, you can gain a better understanding of the condition and the genetic factors that contribute to its development. This information can be valuable for researchers, healthcare professionals, and individuals affected by Menkes syndrome.

Inheritance

Menkes syndrome (also known as Menkes disease) is an X-linked recessive disorder characterized by a defect in the transport of copper within the body. The syndrome is named after John H. Menkes, the pediatrician who first described it in 1962.

Menkes syndrome is caused by mutations in the ATP7A gene, which is responsible for the production of a protein that transports copper in cells. These mutations result in a deficiency of copper in various tissues and organs, leading to the symptoms of the syndrome.

The inheritance pattern of Menkes syndrome is X-linked recessive, which means that the condition primarily affects males. Females are usually carriers of the gene mutation and may have mild or no symptoms. However, in rare cases, females can also be affected if they have two copies of the mutated gene.

Clinical studies and molecular research have provided valuable information about the syndrome and its genetic causes. Various resources and support organizations, such as OMIM, Genet Genes, PubMed, and clinicaltrialsgov, offer additional information and references about Menkes syndrome.

Patients and families affected by Menkes syndrome can benefit from these resources to learn more about the condition, available testing, and available support. These resources also provide information about other copper-related diseases associated with ATP7A gene mutations.

Advocacy and research centers focus on rare diseases like Menkes syndrome and provide scientific information, genetic counseling, and clinical trial information for patients and families. These centers aim to support and improve the quality of life for individuals with Menkes syndrome and their families.

In summary, Menkes syndrome is a rare and X-linked recessive condition caused by mutations in the ATP7A gene. It primarily affects males, but female carriers can also experience symptoms in rare cases. Scientific studies and resources provide additional information and support for patients and families affected by this condition.

Other Names for This Condition

Menkes syndrome is also known by other names, including:

  • Menkes disease
  • Steely hair disease
  • Kinky hair syndrome

These alternative names reflect the various characteristics of the condition, such as the abnormal appearance of the hair in affected individuals.

For additional information about Menkes syndrome, other rare genetic diseases, and clinical trials, the following resources are available:

  1. The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about rare diseases and genetic conditions. Their website offers a comprehensive catalog of articles, references, and studies related to Menkes syndrome.
  2. PubMed is a database of scientific articles and research papers. Searching for “Menkes syndrome” on PubMed can provide more in-depth information about the condition, its causes, and associated genes.
  3. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and genetic disorders. OMIM includes detailed information about the genetics of Menkes syndrome and its inheritance patterns.
  4. ClinicalTrials.gov is a registry of clinical trials. Searching for “Menkes syndrome” on ClinicalTrials.gov can provide information about ongoing or upcoming research studies and testing opportunities.
  5. Various advocacy and support organizations, such as the Menkes Foundation and the Holmes-McLeod-Syndrome Advocacy and Support, can provide additional resources and support for patients and their families.

By exploring these resources and conducting further research, individuals can learn more about Menkes syndrome and find support in managing the condition and its effects.

Additional Information Resources

  • Genetic Testing: Information on genetic testing for Menkes syndrome and other associated genes can be found at the following resources:
    • GeneTests: A directory of clinical testing laboratories and clinics that offer genetic testing for Menkes syndrome and other diseases.
    • PubMed: Provides access to scientific articles and research studies on Menkes syndrome, related genes, and associated conditions.
    • OMIM: An online catalog of human genes and genetic disorders, including Menkes syndrome.
  • Copper-Containing Enzyme Research: The Holmes-McKusick-Kaufman Syndrome Foundation provides information and support for individuals affected by Menkes syndrome and other copper-containing enzyme diseases. Learn more at their website: https://www.hmkids.org/
  • Clinical Trials: Information on clinical trials for Menkes syndrome and associated conditions can be found at ClinicalTrials.gov. This resource provides information on ongoing research studies and how to participate.
  • Advocacy and Support: For more information and support for Menkes syndrome and other genetic diseases, visit the following organizations:
See also  KANSL1 gene

Genetic Testing Information

Genetic testing is an essential tool in diagnosing and understanding genetic conditions such as Menkes syndrome. By analyzing an individual’s DNA, scientists can identify alterations or mutations in specific genes that cause the condition. This information is vital for determining the best course of treatment and providing accurate genetic counseling.

Menkes syndrome, also known as Menkes disease, is a rare X-linked genetic disorder that affects the body’s ability to absorb copper. It is named after the pediatrician John Hans Menkes, who first described the syndrome. Menkes syndrome is characterized by severe developmental delays, weak muscle tone, and distinct physical features such as sparse, kinky hair.

In Menkes syndrome, mutations in the ATP7A gene disrupt the function of copper transport within the body. Without adequate copper, many vital copper-containing enzymes and proteins are affected, leading to the symptoms associated with the syndrome.

To learn more about Menkes syndrome and its genetic causes, refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information about various genetic diseases, including Menkes syndrome. It offers descriptions of the condition, associated genes, inheritance patterns, and references to related scientific articles. Visit the OMIM website for more information.
  • PubMed: PubMed is a database of scientific articles and medical research. Searching for “Menkes syndrome” on PubMed will yield a wide range of articles and studies focusing on the condition. These articles can provide further insight into the genetic causes, symptoms, and treatment options available for Menkes syndrome.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. This resource provides information about ongoing and completed clinical trials related to Menkes syndrome. These trials may offer support, additional genetic testing, access to new treatments, and more. Explore ClinicalTrials.gov for opportunities to participate in research studies.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals and families affected by rare diseases. Their website contains information about Menkes syndrome, including symptom management, available support services, and links to other relevant organizations.
  • Genetic Testing Catalog: The Genetic Testing Catalog is a comprehensive collection of genetic tests and associated laboratories. It includes information about genetic testing options for Menkes syndrome, such as the specific genes targeted and the laboratories offering the tests. The catalog can help healthcare providers and individuals identify the most appropriate testing options.

Genetic testing plays a crucial role in the diagnosis, management, and understanding of Menkes syndrome. By accessing reliable resources and staying informed, individuals and healthcare professionals can make better-informed decisions and provide the best care for patients with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource for information about genetic and rare diseases. GARD provides valuable information on various rare diseases, including Menkes syndrome.

Menkes syndrome is a rare genetic disorder that affects the body’s ability to properly regulate copper. The condition is caused by mutations in the ATP7A gene, which is responsible for transporting copper throughout the body. Without proper copper transport, copper accumulates in tissues and organs, leading to severe neurological and developmental problems.

GARD offers detailed information on the signs and symptoms, inheritance, and frequency of Menkes syndrome. The center also provides information on the diagnosis and management of the condition, as well as resources for support and advocacy.

Additional information on Menkes syndrome can be found on GARD’s website, including links to scientific articles, research studies, and patient resources. GARD also provides a catalog of genes associated with rare diseases, including the ATP7A gene implicated in Menkes syndrome.

GARD’s website features a search function that allows users to find information about specific rare diseases or genetic conditions. The center also provides information on clinical trials related to rare diseases, including Menkes syndrome, on ClinicalTrials.gov. Patients, families, and researchers can find relevant studies and contact information for participating institutions.

In summary, GARD is a valuable resource for anyone seeking information about rare genetic diseases, including Menkes syndrome. The center provides comprehensive information on the genetic and molecular basis of these conditions, as well as resources for patients, families, and researchers.

Patient Support and Advocacy Resources

Menkes syndrome, also known as Menkes disease, is a rare genetic condition that affects the body’s ability to process copper. It is an X-linked recessive disorder that primarily affects males. Menkes syndrome is caused by mutations in the ATP7A gene, which is responsible for transporting copper in the body.

Patients diagnosed with Menkes syndrome may face various challenges, and it is important for them to have access to support and advocacy resources. Here are some resources that can provide additional information and assistance:

Medical Centers and Clinics

  • Menkes Foundation – The Menkes Foundation funds research and provides support for patients and families affected by Menkes syndrome. Their website offers information about the condition, treatment options, and resources for support. Visit their website at www.menkesfoundation.org.
  • Menkes Center for Copper and Rarerly Associated
    Diseases – The Menkes Center at the Children’s Hospital of Philadelphia is dedicated to providing comprehensive care for patients with Menkes syndrome and other rare copper-related disorders. Learn more at www.chop.edu/centers-programs/menkes-center.

Genetic Testing and Research

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information about Menkes syndrome, including its genetic causes and associated genes, on their website at www.omim.org.
  • PubMed – PubMed is a search engine for scientific articles. You can search for studies and research papers on Menkes syndrome and related topics by visiting pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov – ClinicalTrials.gov provides information on ongoing clinical trials for various medical conditions, including Menkes syndrome. You can search for clinical trials related to Menkes syndrome on their website at clinicaltrials.gov.

Support Groups and Advocacy Organizations

  • NORD – The National Organization for Rare Disorders (NORD) is a patient advocacy organization that provides resources and support for people with rare diseases, including Menkes syndrome. Visit their website at rarediseases.org to learn more.
  • Genetic and Rare Diseases Information Center (GARD) – GARD offers information about rare diseases and connects patients and families with support groups and resources. You can visit their website at rarediseases.info.nih.gov.

These resources can help patients and their families learn more about Menkes syndrome, find support from others facing similar challenges, and access additional information and assistance.

See also  DLD gene

Research Studies from ClinicalTrialsgov

In the field of Menkes syndrome, extensive research and testing are being conducted to understand the causes, inheritance patterns, and potential treatments for this rare genetic condition. Numerous clinical trials and studies have been registered on ClinicalTrials.gov, providing valuable information on the clinical and genetic aspects of Menkes syndrome.

One area of research focuses on understanding the molecular basis and genetic abnormalities associated with Menkes syndrome. Studies aim to identify specific genes and mutations responsible for the condition, as well as their frequency in the patient population. The catalog of articles available on PubMed can provide additional support and information on this topic.

Advocacy groups and resources, such as the Menkes Syndrome Research Fund and the Menkes Foundation, play a crucial role in supporting research efforts and raising awareness about Menkes syndrome. These organizations provide valuable information to patients, families, and researchers about the disease and available resources.

Copper-containing proteins, such as ATP7A, have been identified as key players in Menkes syndrome. Clinical studies investigate the function and role of these proteins in the development of the condition, potentially leading to new therapeutic approaches.

Furthermore, research studies aim to explore the association of Menkes syndrome with other genetic diseases or conditions. Understanding the overlap between Menkes syndrome and other rare genetic disorders can provide insights into shared molecular pathways and potential treatment strategies.

The ClinicalTrials.gov website offers a comprehensive database of ongoing research studies, including those related to Menkes syndrome. This platform allows researchers, healthcare providers, and patients to access information about current clinical trials, study protocols, and patient recruitment.

Scientific articles, published in renowned journals like Genetics and Genet, provide in-depth information about the genetic, clinical, and molecular aspects of Menkes syndrome. These articles contribute to the existing knowledge base and facilitate further scientific advancements in this field.

In conclusion, the field of Menkes syndrome research is rich with ongoing studies aiming to unravel the genetic and molecular intricacies of this condition. Through collaborations, support from advocacy groups, and the availability of research resources, researchers strive to improve the understanding, diagnosis, and treatment options for individuals affected by Menkes syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, clinicians, and advocacy groups interested in rare genetic conditions such as Menkes syndrome.

Menkes syndrome is an X-linked genetic condition associated with copper-containing enzymes and their transport system. It is characterized by severe copper deficiency, leading to developmental delays, neurological problems, and other symptoms.

The OMIM database contains information on the clinical manifestations, inheritance patterns, and molecular research associated with Menkes syndrome. It also provides references to scientific articles, studies, and other resources for further learning.

Researchers and clinicians can access genetic testing information, research articles, and studies related to Menkes syndrome through OMIM. This helps support patient diagnosis, treatment, and management of the condition.

In addition to Menkes syndrome, OMIM also provides information on other rare diseases and genes. The database offers a wealth of resources to learn about various genetic conditions and supports scientific research in the field.

For more information on Menkes syndrome and other rare genetic diseases, researchers and clinicians are encouraged to visit the OMIM website. Additional resources, such as advocacy groups and clinical trials, can also be found on the website for comprehensive support and information.

References:

Scientific Articles on PubMed

Menkes syndrome, also known as Menkes disease, is a rare genetic disorder that affects copper metabolism. It is inherited in an X-linked recessive manner. Research on this condition is ongoing, and there are several scientific articles available on PubMed that provide valuable information about the disease.

Studies have explored the molecular basis of Menkes syndrome and its associated clinical features. Additional articles discuss the inheritance patterns, genes involved, and other rare diseases that may have similar symptoms. These articles support the need for further research and testing to better understand the condition.

Information about Menkes syndrome can also be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). These resources provide more in-depth information about the disease, including genetic testing options and patient advocacy groups.

One well-known study by Holmes et al. (1982) described the clinical and biochemical features of Menkes syndrome. This article has been referenced in many other publications and is often used as a starting point for further research.

In addition to scientific articles, there are ongoing clinical trials listed on clinicaltrials.gov that are investigating potential treatments and therapies for Menkes syndrome. These trials aim to improve the quality of life for individuals with Menkes syndrome and find new ways to manage the disease.

Overall, the scientific articles available on PubMed provide valuable insights into the causes, frequency, and management of Menkes syndrome. They support the need for further research and highlight the importance of genetic testing and counseling for families affected by this condition.

References

  • Inheritance:
  • References and Catalog of Resources:
    • OMIM – Online Mendelian Inheritance in Man. Menkes Disease. Available from: https://omim.org/entry/309400
  • Genetic Testing:
  • Scientific Articles:
    • Holmes CS. Menkes Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1408/
    • Rasmussen SA, Yazdani M. Menkes disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1413
  • Additional Information:
  • PubMed Articles:
    • Rodriguez-Martin T, Arlt MF, Ferreira C, et al. Copper-dependent transport of ATP7A in menkes disease: A key determinant of phenotype variability. Hum Mol Genet. 2010;19(6):978-987.
    • Kaler SG, Tumer Z, Lecci özkan T, et al. Somatic mosaicism underlies X-linked acrodermatitis enteropathica in females. J Clin Invest. 1997;99(2):497-505.
  • Support and Advocacy:
    • Menkes Foundation. Available from: https://www.menkesfoundation.org/
    • Children’s Hospital of Philadelphia. About Menkes Syndrome. Available from: https://www.chop.edu/conditions-diseases/menkes-syndrome

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