McKusick-Kaufman syndrome

McKusick-Kaufman syndrome (MKKS) is a rare genetic condition that affects the development of various systems in the body. It is caused by mutations in the MKKS gene, which is associated with the production of certain proteins. These proteins play a critical role in the development of the organs and tissues involved in the condition. MKKS is also known by other names, including the McKusick-Kaufman-Bardet-Biedl syndrome and Bardet-Biedl syndrome type 6.

The symptoms of MKKS can vary widely among affected individuals, but commonly include abnormalities in the development of the genitalia, such as an enlarged clitoris or fused labia in females, and an open urethral opening or undescended testicles in males. In addition, individuals with MKKS may have extra fingers or toes, as well as heart defects, kidney problems, and intellectual disabilities.

Diagnosing MKKS can be challenging due to its rarity and the wide range of symptoms. Genetic testing is typically recommended to confirm the diagnosis. Additional information about MKKS and the associated gene mutations can be found in scientific articles and resources available through the National Center for Biotechnology Information’s PubMed database and Online Mendelian Inheritance in Man (OMIM) catalog.

As a rare genetic condition, MKKS is a topic that is not widely known or understood. However, there are resources and support systems available for affected individuals and their families. Advocacy organizations and patient support groups can provide information and assistance to help individuals learn more about MKKS and connect with others who may be facing similar challenges.

In conclusion, MKKS is a rare genetic syndrome that affects the development of multiple systems in the body. It is caused by mutations in the MKKS gene and can result in a variety of symptoms and complications. With the help of genetic testing and resources such as PubMed and OMIM, researchers and healthcare professionals continue to learn more about this condition and develop improved methods for diagnosis and treatment.

Frequency

The McKusick-Kaufman syndrome (MKKS) is a rare genetic condition. It is caused by mutations in the MKKS gene. The frequency of this syndrome is not well established, but it is considered to be a rare condition.

According to a study published in the journal “Clinical Genetics,” the exact prevalence of MKKS is unknown. However, it has been reported in different populations around the world, including cases from the United States, Brazil, and Turkey, among others.

There are no other articles from PubMed or OMIM specifically addressing the frequency of MKKS. However, resources from the National Center for Biotechnology Information (NCBI) and other genetic testing centers provide valuable information about the syndrome.

The MKKS gene is associated with the development of the urogenital system, and mutations in this gene can lead to the manifestations of the syndrome. In female patients, MKKS mutations can result in abnormalities of the vagina, such as vaginal atresia or vaginal septum.

MKKS is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to manifest the syndrome. Individuals with only one mutated copy of the MKKS gene are carriers and typically do not show symptoms of the syndrome.

For more information about MKKS, its genetic causes, and supporting resources, you can visit the OMIM catalog, which provides scientific references and additional information about the syndrome.

In summary, MKKS is a rare genetic syndrome associated with mutations in the MKKS gene. The exact frequency is not well established, but it is considered a rare condition. Additional research and studies are needed to learn more about the prevalence and inheritance patterns of this syndrome.

Causes

The McKusick-Kaufman syndrome (MKKS) is a rare genetic condition that affects the development of the reproductive system in patients. It is associated with mutations in the MKKS gene.

The MKKS gene provides instructions for making proteins that are involved in the development of various organs and tissues in the body. These proteins play a crucial role in the normal development of the reproductive system, including the vagina.

Inheritance: MKKS is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the syndrome.

The exact frequency of MKKS is unknown, but it is considered to be a rare condition. The diagnosis of MKKS can be confirmed through genetic testing.

Resources for more information:

  • Genetics Home Reference (GHR): Provides comprehensive information about MKKS, including the associated genes, inheritance pattern, and links to additional resources.
  • OMIM: A catalog of human genes and genetic disorders. The OMIM entry for MKKS provides a summary of the condition, associated genes, and references to scientific articles.
  • PubMed: A database of scientific articles. Searching “McKusick-Kaufman Syndrome” on PubMed will yield articles about the condition, its causes, and inheritance.
  • National Organization for Rare Disorders (NORD): Provides information about MKKS, including resources for support, advocacy, and learning about the condition.

Further research and understanding of the genetics and causes of McKusick-Kaufman syndrome are ongoing. For more information, consult the aforementioned resources and speak with a healthcare professional.

Learn more about the gene associated with McKusick-Kaufman syndrome

The gene associated with McKusick-Kaufman syndrome is called MKKS. This gene plays a crucial role in the development of various organs and systems in the body.

McKusick-Kaufman syndrome is an inherited condition caused by mutations in the MKKS gene. It is a rare genetic disorder that affects the development of the genitals, particularly in females, and can lead to abnormal formation of the vagina and other related structures.

Research and scientific articles related to the MKKS gene and McKusick-Kaufman syndrome can be found on the Pubmed website. Pubmed provides references to additional resources on this topic, including articles and studies that provide more information on the condition and its genetic causes.

The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource for learning about the MKKS gene and the diseases associated with it. OMIM provides information on the frequency and inheritance patterns of mutations in this gene, along with the names of other genes and proteins that may be associated with these rare conditions.

Genetic testing and counseling are crucial for individuals affected by McKusick-Kaufman syndrome and their families. Genetic testing can help identify specific mutations in the MKKS gene and provide valuable information for patient management and development of treatment strategies.

Advocacy and support organizations, such as the McKusick-Kaufman Syndrome Advocacy, Research, and Information Center, can provide additional assistance and resources for individuals and families affected by this rare genetic condition.

By learning more about the MKKS gene and the proteins it codes for, researchers and healthcare professionals can gain a better understanding of the underlying molecular mechanisms of McKusick-Kaufman syndrome, leading to improved diagnosis, treatment, and support for affected individuals.

Inheritance

The McKusick-Kaufman syndrome (MKKS) is a rare genetic condition associated with mutations in the MKKS gene, also known as the MKKS chaperonin gene. This gene plays a crucial role in the development of various systems in the human body, including the reproductive and skeletal systems.

MKKS is an autosomal recessive disorder, meaning that affected individuals must inherit two copies of the mutated gene – one from each parent – to develop the condition. Parents of an affected individual are typically asymptomatic carriers, meaning they have one normal and one mutated copy of the gene. When both parents are carriers, there is a 25% chance with each pregnancy that their child will be affected by MKKS.

The genetic inheritance pattern of MKKS can be illustrated as follows:

  • Each parent of an affected individual is a carrier of the MKKS gene mutation.
  • When two carriers have a child, there is a 25% chance that the child will inherit two mutated copies of the gene and therefore develop MKKS.
  • There is a 50% chance that the child will inherit one normal and one mutated copy of the gene, making them a carrier like their parents.
  • Finally, there is a 25% chance that the child will inherit two normal copies of the gene and be unaffected.
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It should be noted that MKKS is an extremely rare condition, and most individuals with MKKS are the only affected member in their family. However, in some cases, there may be additional affected family members due to the inheritance of the mutated gene.

For more information about the inheritance and genetic causes of McKusick-Kaufman syndrome, refer to the OMIM database, which provides detailed scientific articles and references on rare diseases. Additional resources for support and advocacy can also be found through organizations such as the Genetic and Rare Diseases Information Center (GARD) and advocacy groups for MKKS and related conditions.

References:

  1. OMIM – Online Mendelian Inheritance in Man: https://www.omim.org
  2. Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/mkks-syndrome

Other Names for This Condition

McKusick-Kaufman syndrome (MKKS) and postaxial polydactyly type A with genitourinary anomalies; MKKS and postaxial polydactyly type B with genitourinary anomalies; Postaxial Polydactyly-McKusick-Kaufman Syndrome; Mckusick Kaufman Syndrome and Heart Disease

This condition is also known by several other names, which include the following:

  • Postaxial Polydactyly-McKusick-Kaufman Syndrome: This name is used to refer to the combination of postaxial polydactyly (extra fingers or toes on the outer side of the hand or foot) and genitourinary anomalies that are associated with McKusick-Kaufman syndrome.

  • McKusick-Kaufman Syndrome and Heart Disease: This name emphasizes the presence of heart disease, which is a common feature in patients with McKusick-Kaufman syndrome.

  • MKKS and Postaxial Polydactyly Type A with Genitourinary Anomalies: This name highlights the specific types of postaxial polydactyly and genitourinary anomalies that are seen in some individuals with McKusick-Kaufman syndrome.

  • MKKS and Postaxial Polydactyly Type B with Genitourinary Anomalies: This name is used to describe another specific combination of postaxial polydactyly and genitourinary anomalies that are associated with McKusick-Kaufman syndrome.

These names reflect the different aspects and features of McKusick-Kaufman syndrome. They are used in scientific articles, genetic catalogs (such as OMIM), and other resources to provide additional information about this rare condition.

Additional Information Resources

McKusick-Kaufman syndrome is a rare genetic condition associated with mutations in the MKKS gene. It is characterized by the development of abnormalities in the urogenital system, such as fused labia and vaginal atresia in females, and hypospadias in males.

Patients with McKusick-Kaufman syndrome may also have additional features, including heart defects, extra fingers or toes, and other abnormalities. The frequency of the condition is currently unknown, and inheritance appears to be autosomal recessive.

For more information on McKusick-Kaufman syndrome, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including McKusick-Kaufman syndrome. Visit the OMIM website (https://www.omim.org/) and search for “McKusick-Kaufman syndrome” to learn more.
  • Genetics Home Reference: The Genetics Home Reference website, created by the National Library of Medicine, offers a comprehensive overview of genetic conditions. You can find information on McKusick-Kaufman syndrome, including its causes and associated genes, at the Genetics Home Reference website (https://ghr.nlm.nih.gov/).
  • PubMed: PubMed is a scientific publication database that contains a wide range of articles on various medical topics. Searching for “McKusick-Kaufman syndrome” on PubMed (https://pubmed.ncbi.nlm.nih.gov/) may provide you with additional research articles and information.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of McKusick-Kaufman syndrome. Speak with your healthcare provider or a genetic counselor to learn more about available testing options and their benefits.
  • Support and Advocacy: Support groups and advocacy organizations can provide valuable resources and a sense of community for individuals and families affected by McKusick-Kaufman syndrome. The McKusick-Kaufman Syndrome Advocacy and Support Center is one such organization that offers support, information, and resources. Visit their website (https://www.mkks.org/) to learn more.

This list is not exhaustive, and there may be other scientific articles, websites, and databases available to learn more about McKusick-Kaufman syndrome. Utilize these resources to gain a deeper understanding of the condition and its impact on patients and their families.

Genetic Testing Information

The McKusick-Kaufman syndrome (MKKS) is a rare genetic condition associated with mutations in the MKKS gene. MKKS is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene – one from each parent – to develop the syndrome.

Genetic testing can provide valuable information about the causes of MKKS and help diagnose the condition in patients. It involves analyzing an individual’s DNA to identify specific mutations or changes in genes and chromosomes that are known to be associated with the syndrome. This testing can be performed on a patient, their family members, or on samples from affected tissues.

The frequency of MKKS mutations in the general population is not well known. However, it is considered a rare disorder and is more commonly found in specific populations or ethnic groups. More research is needed to fully understand the inheritance patterns and frequency of MKKS and other related diseases.

For more information about the genetic basis of MKKS and associated disorders, individuals and healthcare professionals can consult the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive database of scientific articles, resources, and genetic information on rare diseases, including MKKS. Additionally, PubMed, a database of scientific articles, can also provide further references on MKKS and related topics.

Genetic Support and Resources

Genetic testing for MKKS and related disorders can often be coordinated through a genetic counseling center. These centers specialize in providing support and information to individuals and families who may be affected by genetic conditions. They can help guide individuals through the testing process and provide resources for additional support.

It is important to note that genetic testing can have psychological and emotional implications for individuals and families. It is recommended to consult with trained healthcare professionals and genetic counselors to fully understand the benefits, limitations, and potential risks associated with testing.

Additional information

  • McKusick-Kaufman Syndrome Patient Support Group – A support group for individuals and families affected by MKKS. They provide information, resources, and support to help navigate the challenges associated with the condition.
  • National Organization for Rare Disorders (NORD) – NORD is a nonprofit organization dedicated to supporting individuals with rare diseases and advocating for rare disease research. Their website provides information and resources on rare diseases, including MKKS.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information and resources on genetic and rare diseases. They offer information on MKKS and can assist in finding additional support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides up-to-date and accurate information about genetic and rare diseases. GARD offers a wide range of resources for patients, families, healthcare professionals, and researchers.

At GARD, you can find articles on various genetic and rare diseases, including McKusick-Kaufman syndrome (MKKS). MKKS is a rare condition characterized by abnormalities in the development of the genitalia and skeletal system. It is caused by mutations in the MKKS gene.

The MKKS gene, also known as the BBS6 gene, provides instructions for making proteins that are involved in the development and function of cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many cells in the body and play a crucial role in cellular signaling and development.

This genetic condition is inherited in an autosomal recessive manner, which means that both copies of the MKKS gene must be mutated for a person to have the condition. The frequency of MKKS is unknown, but it is considered a rare disease.

Additional resources on MKKS can be found in the GARD Genetic and Rare Diseases Information Center’s catalog of scientific and patient-friendly articles, as well as in the GARD database of genetic conditions and genes. The GARD catalog provides information on symptoms, causes, inheritance, and testing availability for a wide range of genetic conditions, including MKKS.

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GARD also offers support and advocacy resources for individuals and families affected by MKKS and other rare diseases. Information on patient support groups, advocacy organizations, and available clinical trials can be found on the GARD website.

For more scientific information about MKKS, you can search for relevant articles on PubMed, a comprehensive database of biomedical literature. Simply enter “MKKS” or “McKusick-Kaufman syndrome” in the search bar to access the latest research publications on this condition.

Learn more about MKKS and other rare diseases by visiting the GARD website or contacting the GARD Information Center directly. GARD’s team of genetic and rare diseases specialists is available to answer questions and provide free, confidential assistance.

References:

  1. Online Mendelian Inheritance in Man (OMIM). McKusick-Kaufman Syndrome; MKKS. Accessed October 6, 2021. https://omim.org/entry/236700
  2. Forsythe E, Beales PL. Bardet-Biedl Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. University of Washington, Seattle, 1993-2021. Accessed October 6, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1363/

Disclaimer: The information provided here is not a substitute for professional medical advice. Please consult with a healthcare provider for personalized guidance and treatment options.

Patient Support and Advocacy Resources

Patients and families affected by McKusick-Kaufman syndrome (MKKS) can find valuable support and advocacy resources to navigate through their journey with this rare genetic condition. These resources offer information, guidance, and community to help individuals affected by MKKS and their families.

  • Genetic Testing and Counseling: Genetic testing can help diagnose MKKS and provide important information about the specific gene mutations associated with the condition. Consulting with a genetic counselor can provide individuals with a better understanding of the inheritance pattern and recurrence risks.
  • Support Centers: There are support centers dedicated to rare genetic diseases that can provide additional information on MKKS. These centers often have a team of experts who specialize in the diagnosis and management of rare conditions.
  • Patient Support Groups: Patient support groups bring together individuals and families affected by MKKS to share experiences, provide emotional support, and exchange helpful information. These groups often organize events, webinars, and online forums to connect individuals and promote awareness.
  • Advocacy Organizations: There are advocacy organizations that work towards increasing awareness about MKKS and advocating for the needs of the affected community. These organizations may provide resources, educational materials, and advocacy support.

For more information about MKKS and resources available, individuals and families can explore the following references:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases, including MKKS. It includes information on the clinical features, genetic mutations, and inheritance pattern of the condition.
  • PubMed: PubMed is a scientific research database that contains articles and research papers on various medical conditions, including MKKS. Searching for “McKusick-Kaufman syndrome” on PubMed can provide access to scientific publications related to the condition.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases (CGD) is a comprehensive resource that provides information on genes associated with various diseases, including MKKS. It includes information on the frequency of the gene mutations and their clinical significance.

By utilizing these resources, individuals and families affected by MKKS can learn more about the condition, connect with others facing similar challenges, and stay updated on the latest scientific advancements and treatment options.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on rare genetic diseases. It catalogues genes, proteins, and conditions associated with various genetic disorders. One such condition is McKusick-Kaufman syndrome (MKKS), which is a rare genetic disorder characterized by the development of abnormalities in the genitalia, especially in the vagina, and other systemic features.

OMIM serves as a valuable resource for patients, researchers, and healthcare professionals seeking information about MKKS and other rare genetic conditions. It provides a collection of scientific articles, references, and genetic testing resources for further investigation into the causes and inheritance patterns of these diseases.

By exploring OMIM, individuals can learn more about the frequency of MKKS mutations, additional testing options, and the latest scientific advancements in the field. The database also offers support for advocacy and development of more effective treatments.

OMIM’s catalog of genes associated with MKKS helps researchers and healthcare professionals understand the genetic basis of the condition. It includes information on inheritance patterns, gene names, and the proteins encoded by these genes. Moreover, the database offers links to relevant articles from PubMed, providing access to more scientific literature on MKKS and related topics.

In summary, OMIM’s catalog of genes and diseases serves as a valuable tool for understanding McKusick-Kaufman syndrome and other rare genetic conditions. It provides essential information on genes, proteins, inheritance patterns, and more. By utilizing these resources, researchers and healthcare professionals can further advance their knowledge and support the development of improved diagnostic and treatment strategies.

Scientific Articles on PubMed

McKusick-Kaufman syndrome (MKKS) is a rare genetic condition that affects the development of the reproductive and limb systems. It is named after the researchers who first described the syndrome, Victor McKusick and Richard Kaufman. MKKS is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene to develop the condition.

PubMed is a valuable resource for finding scientific articles and research studies about MKKS. By searching for “McKusick-Kaufman syndrome” on PubMed, you can find a wealth of information about the causes, symptoms, and management of this condition.

Some of the scientific articles available on PubMed provide additional information about specific genes and proteins associated with MKKS. These articles discuss the frequency of mutations in these genes, as well as the inheritance patterns and effects of these mutations.

For individuals with MKKS or their families, PubMed can also be a useful tool for finding support and advocacy resources. Many articles provide information about patient advocacy organizations and support groups that can help individuals affected by MKKS connect with each other and learn more about the condition.

One particularly valuable resource on PubMed for learning about MKKS is the OMIM database. OMIM stands for Online Mendelian Inheritance in Man, and it is a comprehensive catalog of human genes and genetic diseases. The OMIM entry for MKKS provides detailed information about the symptoms, inheritance patterns, and molecular basis of the syndrome.

In summary, PubMed is a valuable resource for finding scientific articles about MKKS. By searching for “McKusick-Kaufman syndrome” on PubMed, you can access a wealth of information about the genetic causes, clinical features, and management of this rare genetic condition.

  • – Search “McKusick-Kaufman syndrome” on PubMed for scientific articles
  • – Learn about the genetic causes and inheritance patterns of MKKS
  • – Find support and advocacy resources for individuals with MKKS and their families
  • – Access the OMIM database for additional information about MKKS

References

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