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MED13L syndrome is a rare genetic condition that is associated with intellectual disability, developmental delay, and other medical problems. It is caused by mutations in the MED13L gene, which is located on chromosome 12. This gene provides instructions for making a protein that is involved in regulating the activity of other genes.

The frequency of MED13L syndrome is not currently known, but it is thought to be very rare. The features of this condition can vary widely, but some of the most commonly observed features include facial dysmorphism, heart defects, and difficulty with feeding and swallowing. Additional problems that have been reported in patients with MED13L syndrome include hearing loss, vision problems, and seizures.

Diagnosis of MED13L syndrome is based on clinical features as well as genetic testing. Testing for mutations in the MED13L gene can be done by sequencing the entire gene or by targeted mutation analysis. Genetic testing can help confirm a diagnosis and can also provide information about the inheritance pattern of the condition.

There is currently no cure for MED13L syndrome, but treatment is available to help manage the symptoms and medical problems associated with the condition. This may include speech therapy, physical therapy, and other interventions to support the development and well-being of the patient. It is important for individuals with MED13L syndrome to receive ongoing medical care and support from a team of healthcare professionals.

For more information about MED13L syndrome, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man) catalog: this online database provides detailed information about the MED13L gene and its associated syndrome.
  • PubMed: this scientific database contains articles and research publications about MED13L syndrome and related topics.
  • Genetics Home Reference: this website provides information about genetic diseases and conditions, including MED13L syndrome.
  • National Center for Advancing Translational Sciences: this center has resources and information about MED13L syndrome and other rare diseases.

References:

Administrative spending is particularly problematic in United States hospitals, where it makes up about 25% of total hospital spending and accounts for hundreds of billions of dollars in healthcare spending annually, The Commonwealth Fund The percentage of total hospital spending devoted to administration is highest in for-profit hospitals, followed by nonprofit hospitals, teaching hospitals, and finally public hospitals. Outdated reimbursement and reporting methods are a big part of the administrative cost, says Salvo-Wendt. “Reimbursing in bundled payments instead of itemizing each service or component would produce instant savings of administrative costs.”

– Chong, J. X., et al. (2016). Autosomal-Dominant Intellectual Disability With Hypotonia and Behavioral Abnormalities. American Journal of Human Genetics, 99(4), 985-991.

– Deciphering Developmental Disorders Study. (2017). Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542(7642), 433-438.

– O’Roak, B. J., et al. (2011). Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics, 43(6), 585-589.

Frequency

The MED13L syndrome is a rare genetic condition that is associated with a variety of features including intellectual disability, developmental delay, dysmorphism (abnormal facial features), and congenital heart diseases. It is caused by mutations in the MED13L gene.

The frequency of MED13L syndrome is not currently known, but it is believed to be rare. Due to the rarity of the condition, it may be underdiagnosed or misdiagnosed. Further scientific research and testing are needed to determine the exact frequency of this syndrome.

Patient advocacy organizations and support groups can provide additional information and resources for those affected by MED13L syndrome. These organizations often have resources on genetic testing, treatment options, and support services.

References to scientific articles and genetic databases can provide further information about the condition. OMIM and PubMed are examples of databases that may have more information about MED13L-related features, associated diseases, and inheritance patterns.

Genetic testing is available for MED13L syndrome and can help confirm a diagnosis in individuals with suspected symptoms. Genetic testing can be done through specialized genetic testing centers or with the help of a healthcare professional.

It is important for individuals with MED13L syndrome or their caregivers to find a healthcare provider familiar with the condition to ensure appropriate medical care and support. These healthcare providers can offer guidance on managing the symptoms and associated conditions of MED13L syndrome.

Learning more about the frequency of MED13L syndrome can help raise awareness and support for individuals and families affected by this rare condition.

Causes

MED13L syndrome is caused by mutations in the MED13L gene. This gene provides instructions for making a protein called mediator complex subunit 13-like (MED13L). The MED13L protein is involved in regulating the activity of other genes. Mutations in the MED13L gene can disrupt the normal functioning of this protein, leading to the signs and symptoms of MED13L syndrome.

MED13L syndrome is a rare genetic disorder. It is estimated to affect fewer than 1 in 1,000,000 people.

Most of the mutations that cause MED13L syndrome are de novo mutations, which means they occur for the first time in an affected individual and are not inherited from either parent. However, in some cases, the syndrome may be inherited from a parent who carries a mutation in the MED13L gene.

People with MED13L syndrome often have distinctive facial features, such as a narrow upper lip, a broad nasal bridge, and widely spaced eyes. They may also have other congenital abnormalities, such as heart defects or difficulty with feeding. Some individuals with MED13L syndrome may have intellectual disability or developmental delay. The severity of the symptoms can vary widely among affected individuals.

To confirm a diagnosis of MED13L syndrome, genetic testing can be performed to identify mutations in the MED13L gene. Additional testing may be necessary to rule out other genetic conditions with similar features.

The frequency of MED13L syndrome is currently unknown, as it is a newly recognized condition. The syndrome was first described in medical literature in 2014. Since then, more information about the condition has been published in scientific articles and cataloged in databases such as PubMed, OMIM, and GeneReviews.

For more information about MED13L syndrome, additional resources and support can be found through advocacy organizations and genetic counseling centers.

References:

  1. Balasubramanian, M., et al. (2015). MED13L haploinsufficiency syndrome: A review of the phenotype. Medical Genetics, Genomic Medicine, 3(4), 1-9.
    PubMed
  2. GeneReviews: MED13L-Related Intellectual Disability Syndrome.
    National Center for Biotechnology Information
  3. MED13L syndrome.
    Online Mendelian Inheritance in Man (OMIM)
  4. MED13L syndrome.
    Genetic and Rare Diseases Information Center (GARD)
See also  Hand-foot-genital syndrome

Learn more about the gene associated with MED13L syndrome

MED13L syndrome is a rare genetic condition that affects the MED13L gene. This gene is located on chromosome 12 and is known to play a role in the development and function of various organs and systems in the body. Mutations in the MED13L gene have been found to be the cause of MED13L syndrome.

Patients with MED13L syndrome often experience developmental delay and intellectual disability. They may also have distinct facial features, such as a long face, a prominent forehead, and a narrow mouth. Other common features of the syndrome include heart defects, problems with muscle tone and coordination, and difficulty with feeding and swallowing.

Genetic testing is available to identify mutations in the MED13L gene and confirm a diagnosis of MED13L syndrome. This testing can help provide valuable information about the patient’s condition and guide treatment and management options. It can also be used for genetic counseling to assess the inheritance pattern and recurrence risk for the syndrome.

There are several resources available for further information about MED13L syndrome and related genetic conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic diseases, including MED13L syndrome. The Genetic and Rare Diseases Information Center (GARD) also offers free resources and articles on MED13L syndrome and other rare genetic disorders.

In addition to these online resources, there are advocacy and support organizations available for patients and families affected by MED13L syndrome. These organizations provide information, resources, and a community of support for individuals living with the condition.

Further research and scientific studies are ongoing to better understand MED13L syndrome and its associated features. PubMed, a database of scientific articles, is a valuable resource for accessing the latest research and findings on this condition and related topics.

Learning more about the gene associated with MED13L syndrome can provide a better understanding of the condition, its causes, and potential treatment options. It can also offer support and resources for individuals and families affected by this rare genetic syndrome.

For additional information and references on MED13L syndrome and related genetic conditions, please refer to the resources listed below:

Inheritance

Med13L syndrome is a rare genetic condition caused by mutations in the MED13L gene. It is also known as Mediator Complex Subunit 13-Like Syndrome. The frequency of Med13L-related syndrome is not well known, as it is a recently discovered condition, but it is believed to be rare.

The inheritance pattern of Med13L syndrome is still not fully understood. Some cases have been reported as de novo mutations, meaning the mutation occurs for the first time in the affected individual and is not inherited from either parent. Other cases suggest an autosomal dominant inheritance pattern, where an affected individual has a 50% chance of passing on the condition to each of their children.

Testing for Med13L-related syndrome can be challenging as the condition is rare and the symptoms can vary widely. Genetic testing, including whole exome sequencing, can be used to identify mutations in the MED13L gene. However, it is important to note that a negative genetic test does not rule out the possibility of Med13L syndrome.

For more information on Med13L syndrome, genetic testing, and associated features and diseases, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be consulted. These databases provide further references and articles on Med13L syndrome and other related conditions.

Support and advocacy groups may also provide additional resources and information for patients and families affected by Med13L syndrome. These organizations can help individuals learn more about the causes of the condition, management strategies, and connect with others who have a similar diagnosis.

In conclusion, Med13L syndrome is a rare genetic condition caused by mutations in the MED13L gene. Its inheritance pattern is still being studied, and genetic testing can help identify affected individuals. Resources such as OMIM and PubMed provide further information on Med13L syndrome and related conditions, while support and advocacy groups offer support and resources for patients and families.

Other Names for This Condition

MED13L syndrome is also known by other names, including:

  • Chromosome 12q24.31 deletion syndrome
  • KAT8 regulatory NSD3 associated syndrome (KANSS)
  • MED13L Haploinsufficiency Syndrome (MED13L Haplo)
  • MED13L-related intellectual disability (MED13L-ID)

These names are used to refer to the same condition caused by changes (mutations) in the MED13L gene, located on chromosome 12q24.31. The condition is characterized by intellectual disability, dysmorphism (abnormal facial features), and other associated features.

The frequency of MED13L syndrome is unknown, but it is considered a rare genetic condition. It is generally diagnosed through genetic testing, such as chromosomal microarray analysis or whole exome sequencing.

Further information about MED13L syndrome can be found in the scientific literature, such as articles published on PubMed and OMIM (Online Mendelian Inheritance in Man). Resources such as the Genetic and Rare Diseases Information Center (GARD) and the Catalog of Genes and Genetic Diseases (GTR) also provide additional information on this condition.

Support and advocacy organizations, such as the MED13L Foundation, offer resources and support to individuals and families affected by MED13L syndrome. These organizations provide information on genetic testing, clinical trials, and further resources for those seeking to learn more about this rare condition.

It is important for individuals with MED13L syndrome to receive appropriate medical care and support. Regular follow-up visits with healthcare providers and specialists may be necessary to address the specific needs and challenges associated with this condition.

Additional Information Resources

If you are looking for more information about MED13L syndrome or other med13l-related conditions, the following resources may be helpful:

  • Further Testing: If you suspect that you or someone you know may have MED13L syndrome, further genetic testing can be done to confirm the diagnosis. Contact a genetic testing center or a geneticist for more information.
  • OMIM: OMIM is a comprehensive database that provides information about genetic disorders, including MED13L syndrome. Visit the OMIM website to learn more about the symptoms, inheritance patterns, and other genetic references related to MED13L syndrome.
  • PubMed: PubMed is a scientific database that can be used to find scientific articles and studies related to MED13L syndrome. You can search for specific topics or keywords to access the latest research and findings.
  • Support Center for Rare Genetic Diseases: There are various support centers and organizations that provide resources and support for individuals and families affected by rare genetic diseases. Contact your local support center to find more information about MED13L syndrome.
  • Genes and Diseases: The Genes and Diseases database is a useful resource to learn about the genes associated with various diseases, including MED13L syndrome. Visit their website to explore the different features and genetic causes of MED13L syndrome.
  • Free Patient Advocacy Resources: There are patient advocacy organizations that provide free resources and support for individuals and families affected by MED13L syndrome. These organizations can help you navigate the medical system, find support groups, and provide educational materials.
  • Catalog of Human Genetic Variation: The Catalog of Human Genetic Variation (CGC) is an extensive database that provides information about genetic variations associated with various diseases. It can be a valuable resource to understand the frequency and distribution of MED13L gene mutations.
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By exploring these additional resources, you can gather more information about MED13L syndrome and gain a better understanding of this rare genetic condition.

Genetic Testing Information

If you or someone you know has been diagnosed with MED13L syndrome or you suspect that you might have this condition, genetic testing can provide valuable information. Genetic testing is a way to analyze an individual’s DNA to look for changes or mutations in specific genes that are known to be associated with a particular condition.

There are several types of genetic testing available, including targeted genetic testing and whole exome sequencing. Targeted genetic testing focuses on specific genes that are known to be associated with MED13L syndrome. Whole exome sequencing analyzes all of the protein-coding regions of an individual’s DNA to look for potential genetic causes for their condition.

Genetic testing for MED13L syndrome can confirm a diagnosis, provide information about the inheritance pattern, and help in determining the specific gene variant causing the condition. It can also be a valuable tool for providing more information about the condition and its associated features.

If you are considering genetic testing for MED13L syndrome or have already undergone testing, there are resources available to support you. Genetic counselors and medical geneticists can provide guidance and support throughout the testing process. Additionally, there are advocacy organizations and support groups that can provide information and connect you with others who have experience with MED13L syndrome.

It is important to note that genetic testing can have limitations. In some cases, the genetic cause of MED13L syndrome may not be identified even with testing. Additionally, the interpretation of genetic test results can be complex, and the results may not always provide clear answers.

For more information about genetic testing for MED13L syndrome, here are some resources you may find helpful:

  • The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests, including those for MED13L syndrome. It includes information about the purpose of the test, the genes involved, and the laboratory offering the test.
  • The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It contains information about the known genes associated with MED13L syndrome and provides references to scientific articles for further reading.
  • PubMed is a database of scientific articles and publications. Searching for “MED13L syndrome” or related terms can provide additional information about the condition and ongoing research.
  • The MedGen website, maintained by the National Center for Biotechnology Information (NCBI), provides information about genetic conditions, including MED13L syndrome. It includes a summary of the condition, associated features, and references to scientific articles.

Remember, genetic testing can provide important information about MED13L syndrome, but it is just one part of the diagnostic process. A thorough evaluation by a healthcare provider experienced in genetic conditions is necessary to make a definitive diagnosis and develop an appropriate care plan.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource that provides reliable and up-to-date information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).

GARD provides information on a wide range of rare and genetic diseases, including MED13L syndrome. MED13L syndrome is a rare genetic condition that is characterized by developmental delay, intellectual disability, and distinctive facial dysmorphism. It is caused by mutations in the MED13L gene.

GARD offers a catalog of articles, references, and other resources related to MED13L syndrome. These resources can provide further information on the causes, symptoms, and treatment options for individuals with this condition. GARD also provides information on genetic testing and inheritance patterns for MED13L syndrome.

Individuals with MED13L syndrome may present with a variety of features, including heart defects, difficulty with feeding and swallowing, and other congenital anomalies. GARD provides information on these associated features and additional medical conditions that may be present in individuals with MED13L syndrome.

GARD also offers support and advocacy resources for individuals and families affected by MED13L syndrome. These resources can help connect individuals with support groups and patient advocacy organizations that can provide further support and information.

GARD’s website features an easy-to-use search function that allows users to find information on specific rare or genetic diseases, including MED13L syndrome. The website also provides links to other reliable sources of information, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where users can find more scientific articles and references on MED13L syndrome.

  • GARD provides information on the frequency of MED13L syndrome, including how rare the condition is and how many cases have been reported worldwide.
  • GARD offers a catalog of articles and references on MED13L syndrome, including scientific articles and research studies that have been published on the condition.
  • GARD provides information on genetic testing for MED13L syndrome, including how testing is done and what the results can tell patients and their families.
  • GARD offers resources for patients and families affected by MED13L syndrome, including support groups, advocacy organizations, and additional sources of information.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by MED13L syndrome. GARD provides information on the causes, symptoms, and treatment options for this rare genetic condition, as well as resources for support and advocacy. The website offers a comprehensive catalog of articles and references, as well as links to additional sources of information. GARD’s mission is to provide reliable and up-to-date information on rare and genetic diseases, and it is a valuable resource for anyone seeking information on MED13L syndrome.

See also  SERPINA7 gene

Patient Support and Advocacy Resources

Patients and families affected by MED13L syndrome may face various challenges and require support. Here are some patient support and advocacy resources that can provide valuable information and help:

  • Patient Support Center: A center specifically dedicated to providing support and resources to patients and families affected by rare genetic diseases, including MED13L syndrome.
  • Genetic Testing: Testing for the MED13L gene and associated genes can confirm the diagnosis of MED13L syndrome or reveal other rare genetic conditions. Genetic testing can be done through specialized genetic testing centers.
  • Support Groups: Joining support groups specifically tailored to patients with MED13L syndrome can provide a sense of community and connection with others facing similar challenges.
  • Advocacy Organizations: Various advocacy organizations focus on raising awareness about MED13L syndrome and promoting research and resources for affected individuals.
  • Scientific Literature: Scientific articles published in medical journals, such as PubMed, provide further information about the features, inheritance patterns, and frequency of MED13L syndrome.
  • Additional Resources: Online resources, such as the GeneReviews and Online Mendelian Inheritance in Man (OMIM) databases, offer comprehensive information about MED13L syndrome and related conditions.

It is important for patients and their families to have access to these resources to learn more about MED13L syndrome, seek support, and advocate for better care and understanding of the condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions and the associated genes.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genes and genetic disorders, including MED13L syndrome. MED13L syndrome is a rare condition caused by mutations in the MED13L gene. It is characterized by developmental delay, intellectual disability, facial dysmorphism, and other features.

The catalog includes information on the genes associated with MED13L syndrome and provides references to scientific articles and resources for further information and genetic testing. MED13L is the primary gene associated with this syndrome, but there may be additional genes involved.

The catalog also provides information on the inheritance patterns of MED13L syndrome. It is considered a rare condition, and the frequency of occurrence is currently unknown.

In addition to MED13L syndrome, the catalog includes information on other genetic diseases and conditions. Users can explore the database to learn about the symptoms, genetic causes, and available testing options for various diseases.

Some key features of the Catalog of Genes and Diseases from OMIM:
Features Information
Genes Information on genes associated with various diseases
Diseases Comprehensive database of genetic diseases and conditions
References Scientific articles and resources supporting the information
Genetic Testing Information on available genetic testing for specific conditions
Inheritance Details on the inheritance patterns of genetic diseases

Access to the OMIM catalog and its resources is free. It is a valuable tool for healthcare professionals, genetic counselors, advocacy groups, and individuals seeking information about genetic conditions and their underlying genetic causes.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for learning about various genetic diseases, including MED13L syndrome. Users can access information about genes, diseases, references, genetic testing, inheritance, and more. It serves as a valuable tool for further understanding and research in the field of genetics.

Scientific Articles on PubMed

PubMed is a well-known resource for scientific articles on various medical conditions. It provides a wide range of references for researchers and medical professionals to learn more about different diseases and syndromes, including MED13L syndrome.

MED13L syndrome, also known as MED13L-related intellectual disability syndrome, is a rare genetic condition caused by mutations in the MED13L gene. It is characterized by intellectual disability, developmental delay, distinctive facial dysmorphism, and other associated features.

PubMed features numerous scientific articles on MED13L syndrome, providing valuable information on its clinical presentation, genetic testing, inheritance patterns, and associated diseases. These articles contribute to the understanding of this rare condition and offer insights into potential diagnostic and therapeutic approaches.

In addition to PubMed, other resources like OMIM (Online Mendelian Inheritance in Man) and patient advocacy groups have also cataloged information on MED13L syndrome. These resources offer further information and support to patients, families, and medical professionals.

Scientific articles on MED13L syndrome often discuss the wide range of phenotypic features present in affected individuals. These features may include intellectual disability, developmental delay, distinctive facial dysmorphism, congenital heart defects, and other abnormalities.

Genetic testing plays a crucial role in diagnosing MED13L syndrome and identifying mutations in the MED13L gene. It helps differentiate this condition from other genetic diseases with overlapping features, allowing for more accurate clinical management and genetic counseling.

By studying MED13L-related intellectual disability syndrome, researchers aim to learn more about the underlying genetic mechanisms and potential therapeutic targets. Scientific articles on PubMed contribute to this knowledge by providing insights into the biological processes and pathways involved in MED13L-related intellectual disability syndrome.

In conclusion, PubMed is a valuable resource for accessing scientific articles on MED13L syndrome and other rare genetic conditions. These articles offer in-depth information on various aspects of the condition, aiding researchers and medical professionals in their quest to improve patient care and outcomes.

References

Below are some references that can provide more information about MED13L Syndrome:

  • MED13L Syndrome: A website that provides information and support for individuals and families affected by MED13L Syndrome. Available at: https://www.med13lsyndrome.com/
  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive, up-to-date information on genes associated with MED13L Syndrome. Available at: https://www.omim.org/
  • PubMed: A database of scientific articles with abstracts on MED13L Syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • ClinVar: A resource that provides information on genetic variation associated with MED13L Syndrome and other related conditions. Available at: https://www.ncbi.nlm.nih.gov/clinvar/
  • GeneReviews: A comprehensive resource that provides clinical descriptions, diagnosis information, and management guidelines for MED13L Syndrome. Available at: https://www.ncbi.nlm.nih.gov/books/NBK547601/
  • Testing: Genetic testing can help confirm a diagnosis of MED13L Syndrome. Options for genetic testing can be found through the following resources:
  • Genetic Advocacy: The Genetic Support Foundation provides resources and support for individuals and families affected by MED13L Syndrome. Available at: https://www.geneticsupport.org/

These references can help you learn more about the causes, symptoms, and treatment of MED13L Syndrome, as well as provide support for individuals and families affected by this condition.

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