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Carney Complex is a rare genetic condition characterized by the development of multiple tumors, primarily in the heart and endocrine glands. It is inherited in an autosomal dominant manner, meaning that individuals who carry the gene for the condition have a 50% chance of passing it on to their children.

The symptoms of Carney Complex can vary widely, but may include cardiac myxomas, skin pigmentation abnormalities, endocrine gland tumors, and other clinical manifestations. These tumors can occur in multiple organs, leading to a diverse range of symptoms and complications. The condition has been associated with mutations in the PRKAR1A gene, which plays a role in the regulation of cell proliferation.

Currently, there is no cure for Carney Complex, but there are treatment options available to manage its symptoms and minimize the risk of complications. Genetic testing can be used to confirm a diagnosis and identify the specific gene mutation responsible for the condition. The Carney Complex Support Center provides resources and support for individuals and families affected by the condition, including information on clinical trials and ongoing research.

To learn more about Carney Complex, its associated symptoms, and the genetic causes of the condition, you can explore scientific articles and references from reputable sources such as PubMed and OMIM. These sources provide valuable information on the latest research studies and findings in the field of Carney Complex.

Frequency

The Carney complex is a rare genetic disease that affects various organs and systems in the body. It is characterized by the development of benign tumors, typically in the heart, skin, and endocrine glands.

Carney complex has a low frequency in patients, with estimates ranging from 1 in 500,000 to 1 in 1,000,000 individuals worldwide. However, it is important to note that this frequency may be underestimated due to underdiagnosis or misdiagnosis.

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Research and clinical trials have provided valuable information about the frequency of specific symptoms and manifestations of Carney complex. For example, cardiac myxoma is a common feature in affected individuals, occurring in approximately 80% of cases. Other frequent findings include skin pigmentation abnormalities, such as lentigines and blue nevi.

Genetic testing is the most reliable method for diagnosing Carney complex. Mutations in certain genes, such as PRKAR1A and CNC1, are known to cause the condition. These genes encode proteins involved in the regulation of cell proliferation and other cellular processes.

Scientific articles and resources available on websites like OMIM, PubMed, and ClinicalTrials.gov provide more information about the frequency of Carney complex and its associated symptoms. These resources can be helpful for clinicians, researchers, and patients interested in learning more about the condition.

Inheritance of Carney complex follows an autosomal dominant pattern, meaning that a person with a mutation in one copy of the relevant gene has a 50% chance of passing the condition on to each of their children.

Support and advocacy organizations, such as the Carney Complex Support Network and the Carney Family Foundation, can provide additional information and resources for individuals and families affected by this rare genetic disease.

Causes

Carney complex is a rare genetic condition that is caused by mutations in the PRKAR1A gene. The PRKAR1A gene provides instructions for making a subunit of an enzyme called protein kinase A. This enzyme plays a role in regulating the proliferation and function of cells.

According to research articles on PubMed, mutations in the PRKAR1A gene lead to uncontrolled cell growth and division, which can result in the formation of tumors such as cardiac myxomas and adrenal gland adenomas.

In some cases, Carney complex may be caused by mutations in other genes, but these are less frequent. Scientific studies have reported mutations in genes such as PDE11A and PRKACA in a small percentage of individuals with Carney complex.

The inheritance pattern of Carney complex is autosomal dominant, which means that a mutation in one copy of the PRKAR1A gene in each cell is sufficient to cause the condition. In some cases, an affected person inherits the mutation from a parent who also has the condition. Other cases may result from new mutations in the gene and occur in people with no family history of the condition.

The Carney Complex Advocacy Association provides a comprehensive catalog of resources and information about the condition on their website. This includes patient advocacy, clinical trial information, genetic testing resources, and more.

For more information about the causes and symptoms of Carney complex, you can visit the following resources:

Learn more about the gene associated with Carney complex

Carney complex is a rare genetic condition characterized by multiple tumors and pigmentation changes. It is caused by mutations in the PRKAR1A gene, which plays a role in the regulation of various cellular processes. Understanding the gene associated with Carney complex is crucial for better diagnosing and managing this condition.

The PRKAR1A gene is cataloged under the name Carney complex type 1 (CNC1) in scientific resources such as OMIM (Online Mendelian Inheritance in Man). Mutations in this gene have been found in a significant percentage of Carney complex cases, making it a key genetic marker for identifying the condition.

One of the notable features of Carney complex is the development of cardiac myxomas, benign tumors that occur in the heart. These myxomas can cause symptoms such as abnormal heart rhythms and heart failure. The PRKAR1A gene has been linked to the development of cardiac myxomas, providing insights into the underlying cause of this condition.

In addition to cardiac myxomas, Carney complex is also associated with other tumors, such as adrenal gland tumors and pituitary gland tumors. The PRKAR1A gene mutations contribute to the abnormal proliferation of cells in these glands, leading to the development of tumors.

To learn more about the PRKAR1A gene and its association with Carney complex, one can refer to reputable scientific publications and resources. PubMed, a database of medical research articles, contains numerous studies and articles discussing the genetic aspects of Carney complex. OMIM provides comprehensive information on the PRKAR1A gene, including its inheritance patterns and the clinical features associated with mutations.

See also  Yao syndrome

Genetic testing is available for individuals suspected of having Carney complex or a family history of the condition. This testing can identify mutations in the PRKAR1A gene and aid in confirming the diagnosis. Organizations such as Carney Complex Support Network provide information and support for individuals affected by this rare disease.

ClinicalTrials.gov is another valuable resource for learning about ongoing research and clinical trials related to Carney complex. These studies aim to further understand the genetic basis of the condition and explore potential treatments or management strategies.

Overall, learning more about the gene associated with Carney complex, specifically the PRKAR1A gene, is essential for advancing the scientific understanding, diagnosis, and management of this rare genetic condition.

Inheritance

Carney complex is an inherited condition that usually follows an autosomal dominant pattern of inheritance. This means that an affected individual has a 50% chance of passing on the condition to each of their children.

In most cases, Carney complex is caused by mutations in the PRKAR1A gene. This gene provides instructions for making a protein that helps regulate the activity of other genes. Mutations in the PRKAR1A gene disrupt this regulatory function, leading to uncontrolled cell growth and proliferation.

Individuals with Carney complex may develop a variety of symptoms and associated conditions. Some of the more common features include cardiac myxomas (noncancerous tumors in the heart), pigmented skin lesions (such as lentigines and blue nevi), and endocrine gland tumors (such as adrenal gland adenomas).

When considering genetic testing for Carney complex, it is important to consult with a healthcare professional or a genetic counselor. They can provide more information about the genetic causes of the condition and help determine if testing is appropriate for this specific case.

Additional Resources

For more information on Carney complex, you may find the following resources helpful:

  • OMIM Catalog: A comprehensive database of human genes and genetic disorders, including Carney complex.
  • PubMed: A scientific database providing access to articles and studies on Carney complex and related topics.
  • The Carney Complex Advocacy: An advocacy group providing support and information for individuals and families affected by Carney complex.
  • ClinicalTrials.gov: A registry of clinical trials investigating Carney complex and potential treatments.

By learning more about Carney complex, its genetic causes, and available resources, individuals and families can better understand and manage this rare genetic condition.

Other Names for This Condition

  • Carney complex
  • Carney myxoma
  • CNC
  • Myxoma syndrome
  • LAMB syndrome
  • Name syndrome
  • Multiple endocrine neoplasia type 4
  • CNC2
  • ACRDYS2

Carney complex, also known as CNC, is a rare genetic disease. It is characterized by the development of tumors, such as myxomas and other types of tumors, in various parts of the body. This condition is caused by mutations in certain genes that are usually inherited from one or both parents.

People with Carney complex may have a variety of symptoms, depending on the specific gene mutation they have. Some of the more common symptoms include skin pigmentation abnormalities, cardiac myxomas (tumors in the heart), and endocrine overactivity. Other less common symptoms include tumors in other organs, such as the adrenal glands.

Diagnosis of Carney complex is typically based on a combination of clinical features and genetic testing. Genetic testing can help identify the specific gene mutation causing the condition, and can also be used for prenatal testing in families with a known mutation. Testing can be done at specialized genetic testing centers.

There is currently no cure for Carney complex, but there are treatment options available to manage the symptoms and reduce the risk of complications. Treatment may involve surgical removal of tumors, medications to regulate hormone levels, and regular monitoring of heart function.

Research studies and clinical trials are ongoing to learn more about the underlying causes of Carney complex and to develop new treatments. Scientific articles about Carney complex can be found in databases such as PubMed and OMIM. There are also resources available from advocacy organizations, such as the Carney Complex Research and Support Network, that provide information and support for patients and their families.

For more information about Carney complex, its symptoms, and available resources, you can visit the following websites:

References:

  1. Basson CT, Carney JA, Pearson GD, et al. Genetic heterogeneity of heart-hand syndromes. Circulation. 1999;100(7):e71-e75. https://pubmed.ncbi.nlm.nih.gov/10484527/
  2. Stratakis CA. Genetics of Carney complex and related familial lentiginoses, and other pigmentary- and endocrine-related syndromes. J Pediatr Endocrinol Metab. 1999;12(6):757-71. https://pubmed.ncbi.nlm.nih.gov/10614525/
  3. Stratakis CA. Carney Complex: Diagnosis and Management of the Complex of Spotty Skin Pigmentation, Cardiac and Other Myxomas, Endocrine overactivity, and schwannomas. Clin Dermatol. 2014;32(3): 359-369. https://pubmed.ncbi.nlm.nih.gov/24767149/

Additional Information Resources

Here are some additional resources for learning more about Carney complex:

  1. Websites and Advocacy Organizations
  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders, including Carney complex.
  • PubMed – A database of scientific articles and research studies on various topics, including Carney complex.
  • ClinicalTrials.gov – A registry of federally and privately supported clinical trials for Carney complex and other diseases.
  • (Add links to specific Carney complex advocacy organizations or support groups if relevant)
  • Genetic Testing and Research Centers
    • (Add names and links to genetic testing centers or research institutions specializing in Carney complex if relevant)
  • Articles and Studies
    • (Include specific reference articles or studies on Carney complex if relevant)
  • Patient Information and Support
    • (Include information on patient support organizations or resources for individuals with Carney complex if relevant)

    These resources can provide more information on the genetic causes, symptoms, diagnosis, and treatment of Carney complex. They can also offer support and advocacy for individuals and families affected by this rare condition.

    Genetic Testing Information

    In the context of Carney complex, genetic testing can provide valuable information about the specific gene mutations that cause the condition. Carney complex is a rare genetic disorder primarily affecting the heart, skin, and endocrine glands.

    The main gene associated with Carney complex is the PRKAR1A gene. Mutations in this gene can lead to the overgrowth and proliferation of cells in various tissues and organs, causing the symptoms and characteristics of the condition.

    See also  IL31RA gene

    Genetic testing can be done to identify mutations in the PRKAR1A gene. This information can help diagnose Carney complex and distinguish it from other similar conditions. It can also be useful in determining the inheritance pattern of the disease within a family.

    Carney complex is usually inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, some cases of Carney complex may occur sporadically, without a clear familial inheritance pattern.

    Genetic testing can be performed on a blood sample, and the results can be used to guide further medical management and treatment for individuals with Carney complex. It can also provide important information for genetic counseling and family planning decisions.

    For more information about Carney complex and genetic testing, you can visit the following resources:

    By accessing these references, you can learn more about the genetic basis of Carney complex, associated symptoms and conditions, available genetic testing options, and ongoing research studies related to the disease.

    Genetic and Rare Diseases Information Center

    The Genetic and Rare Diseases Information Center (GARD) is an information center that provides resources for patients, families, and healthcare professionals. GARD offers information about genetic and rare diseases, testing options, and additional support for those affected by these conditions.

    GARD provides a wide range of resources, including a catalog of articles, clinical trials, and research studies. Through their website, individuals can learn more about specific diseases and conditions, including Carney complex.

    Carney complex is a rare genetic condition characterized by the development of multiple tumors and other symptoms. It is caused by mutations in certain genes that regulate cell proliferation. Some of the most common features of Carney complex include cardiac myxomas (tumors in the heart), skin pigmentation abnormalities, and tumors in various endocrine glands. Additional symptoms may include benign growths on the skin, hormone overproduction, and cardiac arrhythmias.

    The GARD website provides information about Carney complex, including its symptoms, inheritance patterns, and available testing options. They also offer references to articles and research studies related to Carney complex, allowing individuals to learn more about the condition and the latest advancements in its diagnosis and treatment.

    For individuals looking to participate in research studies or clinical trials related to Carney complex, GARD provides information about ongoing studies listed on clinicaltrialsgov. This allows patients and their families to stay up to date with the latest research and potentially contribute to advancements in understanding and treating Carney complex.

    GARD also offers resources for genetic testing, which can be helpful in diagnosing Carney complex and other rare genetic conditions. Genetic testing involves analyzing a patient’s DNA for mutations in specific genes associated with the condition. This can provide valuable information about the cause of the disease and guide treatment decisions.

    In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about Carney complex and other rare genetic diseases. Through their website, individuals can access information, articles, clinical trials, and research studies related to these conditions. GARD provides support and resources for patients, families, and healthcare professionals, enabling them to learn more about these rare diseases and make informed decisions about their health.

    Patient Support and Advocacy Resources

    If you or someone you know has been diagnosed with Carney complex, it can be helpful to connect with patient support and advocacy resources. These resources can provide valuable information, emotional support, and connections with others who are also living with the condition. Below are some recommended resources:

    • Carney Complex Support Network: The Carney Complex Support Network is an online community where individuals with Carney complex and their families can connect, share experiences, and find support. The network provides articles, resources, and a forum for discussion with others who understand the challenges of living with this rare disease.
    • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals living with rare diseases. They offer information on Carney complex, including symptoms, treatment options, and research updates. NORD also provides access to a network of medical experts, clinical trials, and support services.
    • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS), aiming to provide accurate and up-to-date information about genetic and rare diseases. Their website offers comprehensive information about Carney complex, including its causes, inheritance patterns, and available treatments.
    • PubMed: PubMed is a searchable database of scientific articles and research studies. By searching for “Carney complex” in PubMed, you can access a wealth of information on the latest advancements in the understanding and management of this condition. It is a valuable resource for both patients and healthcare professionals.
    • Carney Triad and Carney-Stratakis Syndrome Foundation (CTCSSF): Although different from Carney complex, these conditions share some similarities. The CTCSSF provides support, resources, and information on Carney-related diseases. Their website offers information on symptoms, diagnosis, and treatment options for Carney triad and Carney-Stratakis syndrome.
    • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials across the world. By searching for “Carney complex” on their website, you can find ongoing or upcoming clinical trials that are investigating new treatments or therapies for this condition. Participation in clinical trials can provide access to cutting-edge treatments and contribute to the advancement of research.

    These resources can provide you with additional information and support as you navigate the challenges of living with Carney complex. Remember, you are not alone, and there are people and organizations that are ready to help.

    Research Studies from ClinicalTrials.gov

    ClinicalTrials.gov is a valuable resource for researchers, clinicians, and patients with rare diseases like Carney Complex. It provides information on ongoing and completed clinical trials, advocacy resources, and more. Here are some research studies related to Carney Complex:

    • Genetic Inheritance Studies: ClinicalTrials.gov catalogs studies that investigate the causes and genetic inheritance of Carney Complex. These studies aim to identify the specific genes and genetic factors responsible for the condition.
    • Heart and Pigmentation Studies: Some research studies focus on understanding the cardiac and pigmentation aspects of Carney Complex. These studies analyze the heart and skin pigmentation characteristics of patients with the condition.
    • Testing and Support Studies: ClinicalTrials.gov provides information about clinical trials that evaluate different testing methods for Carney Complex. These studies aim to improve diagnostic accuracy and identify potential treatment options.
    • Additional Research on Carney Complex: There are ongoing studies that investigate other aspects of Carney Complex, including the role of specific genes, such as the PRKAR1A gene, in the development and progression of the disease.
    • Clinical Trials for Associated Conditions: In addition to Carney Complex, ClinicalTrials.gov also catalogs clinical trials for associated conditions, such as cardiac myxoma and adrenal adenoma.
    See also  Isolated ectopia lentis

    These studies provide valuable scientific information about Carney Complex and its associated conditions. Researchers and clinicians can learn more about the genetic causes, symptoms, prognosis, and treatment options through the references and articles available on ClinicalTrials.gov. Individuals affected by Carney Complex can also find support and additional resources through advocacy groups and organizations listed on the website.

    For more genetic information on Carney Complex, the Online Mendelian Inheritance in Man (OMIM) database is a reliable source. OMIM provides comprehensive information on the genetic basis of various diseases, including Carney Complex.

    In summary, ClinicalTrials.gov is a valuable resource for learning about ongoing research studies, genetic information, and support for Carney Complex and associated conditions. It facilitates the dissemination of scientific knowledge and encourages collaboration among researchers, clinicians, and patients.

    Catalog of Genes and Diseases from OMIM

    The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for researchers, clinicians, and patients seeking information on genetic conditions. OMIM is a comprehensive database that provides information about genes and the diseases associated with them.

    Carney complex is one of the rare genetic conditions included in the catalog. It is characterized by the development of multiple tumors, primarily cardiac myxomas and various endocrine tumors. The disease is usually caused by mutations in the PRKAR1A gene, which is involved in cell proliferation and regulation.

    Patients with Carney complex may also experience additional symptoms such as skin pigmentation abnormalities, myxomas in other parts of the body, and nevi (moles) with a characteristic spotty appearance. The inheritance pattern of Carney complex is autosomal dominant, meaning that a mutation in one copy of the PRKAR1A gene is sufficient to cause the condition.

    Testing for mutations in the PRKAR1A gene is available for clinical purposes, and some cases of Carney complex may be eligible for enrollment in clinical trials. Research and advocacy groups, such as the Carney Complex Research and Advocacy Network (CC-RAn), provide support and resources for individuals and families affected by the condition.

    More scientific articles and information about Carney complex can be found in the OMIM database. The catalog includes references to relevant studies, genetic inheritance information, and frequency of the disease. It also provides information on other genes associated with similar conditions and their names in the scientific literature.

    References
    Gene Disease
    PRKAR1A Carney complex
    … …

    For more information about Carney complex and other genetic diseases, the OMIM database and PubMed Central are valuable resources for researchers and clinicians.

    Scientific Articles on PubMed

    Carney complex is a rare genetic condition that affects the glands and is associated with a higher risk of developing tumors and other diseases. This disease is caused by mutations in the PRKAR1A gene and is usually inherited in an autosomal dominant pattern.

    Some of the symptoms of Carney complex include cardiac myxoma, skin pigmentation, and the proliferation of alpha cells. The frequency of this condition is rare, with only a few hundred cases reported worldwide. The Carney Complex Genetic Testing and Research Center is a valuable resource for information on this condition, its genetic causes, and available testing.

    On PubMed, you can find scientific articles about Carney complex and related research. Here are some additional resources:

    • Catalog of Human Genetic Variants (OMIM): OMIM provides information about the PRKAR1A gene and its associated disorders.
    • ClinicalTrials.gov: This database lists ongoing clinical trials related to Carney complex and other genetic conditions.
    • PubMed: PubMed is a comprehensive database of scientific articles, where you can find studies and publications related to Carney complex.

    Some of the articles you can find on PubMed include studies on the genetic basis of Carney complex, clinical symptoms and characteristics, and new advancements in diagnosis and treatment. It is a valuable resource for researchers, healthcare professionals, and patients interested in learning more about this rare condition.

    If you or someone you know has been diagnosed with Carney complex, it is important to seek medical attention and genetic testing. Early detection and intervention can lead to better outcomes for patients with this condition.

    For more information, resources, and support, you can also reach out to the Carney Complex Support and Advocacy Group. They provide assistance to patients and their families, as well as fund research initiatives focused on Carney complex.

    References

    • This information about Carney complex:

      • Carney JA. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Med Molec Morphol. 2007;40(2):123-30.
      • Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000;26(1):89-92.
      • Carney JA. Familial cardiac myxoma: a review. Am J Med Genet C Semin Med Genet. 2005;137C(1):40-3.
      • Carney JA, Stratakis CA. Familial cardiac myxoma and the Carney complex. Am J Med Genet C Semin Med Genet. 2004;129C(1):29-32.

    • Additional resources for information:

    • Catalog of articles and scientific studies:

    • Catalog of clinical trials and advocacy resources:

    • List of genes and testing information:

      • Carney JA. Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Semin Dermatol. 1995;14(2):90-8.

    • Cases and studies about Carney complex:

      • Carney JA. Carney complex: revisiting the trilogy of spotty skin pigmentation, myxomas, and endocrine overactivity. Ann N Y Acad Sci. 2006;1073:21-9.
      • Carney JA. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Med Molec Morphol. 2007;40(2):123-30.
      • Clauser L, Bodei L, Pelizzo MR, et al. Gynecological manifestations in Carney complex. Gynecol Endocrinol. 2006;22(7):383-7.

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