CASK-related intellectual disability

CASK-related intellectual disability is a rare form of intellectual disability that is caused by mutations in the CASK gene. The CASK gene provides instructions for making a protein that is essential for normal brain development and function. Mutations in this gene can disrupt the normal development of the brain and lead to intellectual disability.

Intellectual disability is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. People with CASK-related intellectual disability have intellectual and developmental disabilities that range from mild to severe. Some individuals may also have other features such as microcephaly (a small head size), tone control problems, and difficulties with coordination and balance.

The CASK gene is located on the X chromosome, which means that the condition is inherited in an X-linked manner. This means that the condition primarily affects males, as they have only one copy of the X chromosome. Females can also be affected, but they tend to have milder symptoms due to their additional X chromosome.

The diagnosis of CASK-related intellectual disability is typically made based on clinical features and confirmed by genetic testing. In addition to mutations in the CASK gene, mutations in other genes have also been associated with intellectual disability. These include genes involved in brain development, neuronal function, and various other biological processes.

Resources for individuals and families affected by CASK-related intellectual disability can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These websites provide articles and information about the condition, as well as support and advocacy organizations. It is important for individuals and families to have access to accurate and up-to-date information to better understand the causes, symptoms, and management of this rare genetic disorder.

Frequency

The frequency of CASK-related intellectual disability is relatively low and it is considered a rare genetic disorder.

Information and articles about the genetic frequency of CASK-related intellectual disability can be found in resources such as OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders. CASK-related intellectual disability is considered one of the rare diseases listed in OMIM.

While CASK-related intellectual disability is rare, it is not the most rare condition in the area of intellectual disabilities. There are other forms of intellectual disabilities that have a lower frequency.

In terms of inheritance, CASK-related intellectual disability is an X-linked disorder, meaning it is primarily seen in males. However, there have been cases of females with milder forms of the condition, which are associated with mutations on one copy of the CASK gene.

Additional scientific information on the frequency and genetic causes of CASK-related intellectual disability can be found in research articles available on PubMed, a database of biomedical literature.

It is important to note that CASK-related intellectual disability occurs in the context of a broader neurological disorder known as CASK-related disorder. This disorder affects various functions of the brain, including head size (microcephaly) and motor control.

For patients and families seeking more information and support, advocacy organizations such as the CASK Advocacy Network provide resources and support for those affected by CASK-related intellectual disability.

Overall, while CASK-related intellectual disability is considered a rare genetic disorder, there is a growing body of scientific knowledge about its frequency, genetic causes, and associated features. Resources such as OMIM and PubMed provide valuable information for researchers, clinicians, and families affected by this condition.

Causes

The causes of CASK-related intellectual disability are not fully understood. However, several genes have been associated with this condition.

One of the most well-known genes associated with CASK-related intellectual disability is the CASK gene. Mutations in this gene can cause a range of neurological disorders, including intellectual disability. The CASK gene is involved in the development of synapses, which are the connections between nerve cells in the brain. Mutations in the CASK gene can disrupt the normal functioning of these synapses, leading to intellectual disability.

In addition to the CASK gene, other genes have also been implicated in CASK-related intellectual disability. These include genes involved in controlling muscle tone and other brainstem functions.

Most cases of CASK-related intellectual disability occur in individuals with an X-linked inheritance pattern. This means that the condition is passed down from the mother to her children, with affected males being more severely affected than females. However, rare cases of CASK-related intellectual disability have also been reported in individuals with an autosomal dominant inheritance pattern, where only one copy of the mutated gene is needed to cause the condition.

Scientific articles and resources about CASK-related intellectual disability can be found on PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific databases. These resources provide information about the genes associated with CASK-related intellectual disability, the inheritance patterns, and more.

Genetic testing can be used to confirm a diagnosis of CASK-related intellectual disability. This involves analyzing the patient’s DNA for mutations in the CASK gene and other genes associated with the condition.

Additional information and support for individuals with CASK-related intellectual disability and their families can be found through advocacy organizations, such as the CASK Disorders Advocacy Network. These organizations provide resources, support, and a community for individuals affected by CASK-related intellectual disability.

In summary, the causes of CASK-related intellectual disability involve mutations in genes such as the CASK gene, which disrupt the functioning of synapses in the brain. The condition can be inherited in an X-linked or autosomal dominant pattern. Scientific resources and genetic testing can provide more information about the specific causes of CASK-related intellectual disability.

Learn more about the gene associated with CASK-related intellectual disability

CASK-related intellectual disability is a rare genetic disorder that affects brain development and function. It is caused by mutations in the CASK gene, which is located on the X chromosome. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK), which plays a crucial role in brain development and the growth of synapses, the connections between nerve cells.

When the CASK gene is mutated, it can disrupt the normal development and function of the brain, leading to intellectual disability and other associated symptoms. CASK-related intellectual disability can occur in both males and females, although it is more common in females due to the X-linked inheritance pattern.

Patients with CASK-related intellectual disability may have a range of symptoms, including intellectual disability of varying severity, developmental delays, speech and language difficulties, seizures, and problems with movement and coordination. In some cases, microcephaly (a smaller than average head size) may also occur.

There are other forms of intellectual disability that are caused by mutations in different genes, but CASK-related intellectual disability is one of the most common genetic causes of severe intellectual disability in females.

For patients and families seeking more information about CASK-related intellectual disability, there are various resources available. Online databases such as OMIM and PubMed provide scientific articles and other information about the disorder and related genes.

Advocacy organizations and support groups may also provide resources, support, and information. These include the CASK Disorders Organization and the XL-ID Network, which focus on supporting individuals and families affected by CASK-related intellectual disability and other related disorders.

Genetic testing can be used to confirm a diagnosis of CASK-related intellectual disability and to identify the specific mutation in the CASK gene. This information can help guide treatment decisions and provide more accurate information about the specific form of the condition that an individual has.

It is important to note that although CASK-related intellectual disability is a rare condition, it is associated with significant challenges for affected individuals and their families. Understanding the genetic and molecular basis of the disorder can help scientists develop new therapeutic approaches and provide more comprehensive support for patients.

Inheritance

CASK-related intellectual disability is a genetic condition that can be inherited in different ways. In most cases, this condition is inherited in an X-linked recessive manner, which means that it primarily affects males. However, females can also be affected but often display milder symptoms.

CASK-related intellectual disability occurs due to mutations in the CASK gene, which is located on the X chromosome. These mutations can occur spontaneously without any family history, but they can also be inherited from an affected parent. In some cases, the condition can also be inherited in an autosomal dominant or autosomal recessive manner, depending on specific genetic alterations.

Scientific literature and genetic resources provide more information about the frequency and forms of inheritance for this condition. References include PubMed, OMIM, and the CASK-related intellectual disability catalog. These resources can help researchers, healthcare professionals, and families better understand the genetics and inheritance patterns associated with this condition.

It is important to note that CASK-related intellectual disability is associated with other brainstem disorders and rare diseases, such as microcephaly and head disorders. These conditions may occur together or independently and can further complicate the clinical presentation and prognosis of affected patients.

Genetic testing can play a crucial role in the diagnosis and identification of the causes of CASK-related intellectual disability. It can provide additional information about specific gene mutations and help tailor patient care and support accordingly.

Advocacy organizations also offer support and resources for individuals and families affected by CASK-related intellectual disability. These organizations provide information, promote awareness, and support research efforts to uncover the underlying causes and potential treatments for this condition. They can also provide assistance in navigating the healthcare system and connecting with other families facing similar challenges.

In summary, CASK-related intellectual disability can be inherited in different ways, including X-linked recessive, autosomal dominant, or autosomal recessive inheritance. The condition is associated with other brainstem disorders and rare diseases. Genetic testing and advocacy resources contribute to our understanding and support for individuals and families affected by this condition.

Other Names for This Condition

This condition is also known by several other names in the medical literature. Some of these include:

CASK-related intellectual disability
XL-ID with or without brainstem dysgenesis
Najm syndrome
CASK gene disorder

In addition, this condition may be referred to by other, more specific names depending on the forms or associated symptoms that occur. These include microcephaly, tone abnormalities, and severe intellectual disability.

For more information about other names for this condition, you may visit resources such as OMIM, the Online Mendelian Inheritance in Man catalog, which provides additional scientific and clinical information about the genetic disorders.

Most of the information available about this condition comes from scientific articles and research papers published in reputable journals. PubMed, a database of biomedical literature, is a good source to find more information about CASK-related intellectual disability, its causes, and associated genetic disorders.

Additional Information Resources

Here, we provide a list of additional resources for patients and families seeking more information about CASK-related intellectual disability:

Scientific Resources:

PubMed: A comprehensive database of scientific articles and research papers covering various areas of study related to CASK-related intellectual disability. Patients and caregivers can access this database to learn more about the causes, symptoms, and treatments for this disorder.
OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. Information about CASK-related intellectual disability can be found here, including details about the CASK gene and its function in the brain.

Patient Support and Advocacy:

CASK-related Intellectual Disability Support Group: A support group specifically for patients and families affected by CASK-related intellectual disability. Information and resources can be shared, and individuals can connect with others facing similar challenges.

Genetic Testing:

Genetic Testing Labs: Genetic testing can help confirm a diagnosis of CASK-related intellectual disability. There are several labs that offer this type of testing, and individuals can consult their healthcare provider for more information.

Scientific Articles and References:

References and Articles: A collection of articles and references related to CASK-related intellectual disability. These resources provide more in-depth information about the condition, its frequency, and potential causes. Some articles may focus on other associated conditions, such as short stature, microcephaly, or abnormal tone.

Websites and Online Resources:

National Organization for Rare Disorders (NORD): NORD is a non-profit organization that provides information, resources, and support for individuals with rare diseases. Their website includes a page dedicated to CASK-related intellectual disability, offering information about the condition, available resources, and advocacy opportunities.

Please note that this list is not exhaustive, and there may be other resources available specific to your region or country. It is always recommended to consult with healthcare professionals and genetic counselors for personalized information and support.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of CASK-related intellectual disability. It enables healthcare professionals to identify specific genetic mutations and variations in the CASK gene, which is known to be associated with this condition. Genetic testing can provide important information about the cause of intellectual disability in patients and their families, as well as guide treatment options and genetic counseling.

What is CASK-related intellectual disability?

CASK-related intellectual disability is a rare genetic disorder that affects the brain’s development and function. It is characterized by intellectual disability, additional neurological and behavioral problems, and distinctive facial features. The condition usually occurs more frequently in females than in males.

Genetic causes and inheritance

CASK-related intellectual disability is caused by mutations or variations in the CASK gene. The CASK gene provides instructions for producing a protein that is important for normal brain development and function. Mutations in this gene can disrupt the protein’s normal function, leading to intellectual disability and other associated symptoms.

Inheritance: CASK-related intellectual disability is usually inherited in an X-linked recessive manner.
Other genes: In addition to the CASK gene, other genes have also been associated with intellectual disability. These include the SYNGAP1, TSPAN7, and ARX genes.

Genetic testing

Genetic testing for CASK-related intellectual disability involves analyzing the CASK gene and other relevant genes for mutations or variations. There are several different types of genetic testing available, including:

Sanger sequencing: This is a method that can identify small changes or mutations in the DNA sequence of the CASK gene.
Next-generation sequencing: This is a newer and more comprehensive method that can analyze multiple genes simultaneously, including the CASK gene.

Resources for genetic testing information

There are several resources available for individuals and families seeking genetic testing information for CASK-related intellectual disability:

OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes and inheritance patterns of various diseases, including CASK-related intellectual disability.
PubMed: PubMed is a scientific database that provides access to a wide range of research articles and publications related to CASK-related intellectual disability and other genetic disorders.
Najm and colleagues catalog: This is a comprehensive catalog of genetic variations in several genes associated with intellectual disability, including the CASK gene.

Support and advocacy

Individuals and families affected by CASK-related intellectual disability can benefit from joining patient advocacy groups and support organizations. These organizations offer valuable resources, information, and support networks for individuals with CASK-related intellectual disability and their families.

In conclusion, genetic testing is an essential tool for diagnosing and managing CASK-related intellectual disability. It provides important information about the genetic causes of the condition and can guide treatment options and genetic counseling. Resources such as the OMIM database, PubMed, and patient advocacy groups can offer additional support and information for individuals and families affected by this rare genetic disorder.

Patient Support and Advocacy Resources

For patients and families affected by CASK-related intellectual disability, it is important to have access to patient support and advocacy resources. These resources provide valuable information, support, and guidance to individuals and families dealing with this condition.

One important resource is the CASK Gene Reviews catalog, which provides comprehensive information on the genes that cause CASK-related intellectual disability and other related disorders. This catalog includes information on the inheritance pattern, frequency, and clinical features of these conditions. It also provides information on genetic testing options available for CASK-related intellectual disability.

Another valuable resource is the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information on the CASK gene and its associated conditions. This database includes information on the genetic variants that can lead to CASK-related intellectual disability, as well as information on the function of the CASK gene in the brainstem and its interaction with other genes.

In addition to these scientific resources, there are also patient support and advocacy organizations that provide support to individuals and families affected by CASK-related intellectual disability. These organizations offer resources such as support groups, educational materials, and advocacy initiatives.

One example of such an organization is the XL-ID (X-linked Intellectual Disability) Foundation, which focuses on providing support and advocacy for individuals with X-linked intellectual disabilities, including CASK-related intellectual disability. The foundation offers resources such as educational materials, online forums, and support groups for individuals and families affected by this condition.

For more information about CASK-related intellectual disability and resources available for support and advocacy, individuals and families can visit websites such as PubMed, which provides access to a wide range of scientific articles and references on the topic. The PubMed database includes articles and references on the genetics, clinical features, and management of CASK-related intellectual disability.

By accessing these patient support and advocacy resources, individuals and families affected by CASK-related intellectual disability can learn more about the condition, find support from others facing similar challenges, and access additional information and resources to help them navigate this complex disorder.

It is important to note that while CASK-related intellectual disability is a rare condition, it can also occur in combination with other genetic conditions or disorders. Therefore, individuals and families affected by CASK-related intellectual disability may also benefit from resources and support available for these additional genetic conditions or disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genetic disorders, including CASK-related intellectual disability. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that compiles information about genetic disorders, their genetic causes, and associated clinical features.

CASK-related intellectual disability is a rare condition characterized by intellectual disability, microcephaly, and other neurological abnormalities. It is caused by mutations in the CASK gene, which plays a critical role in brain development and function.

OMIM provides detailed information about the CASK gene, its associated disorders, and the clinical features observed in affected individuals. It offers a wealth of scientific articles, genetic testing information, and patient advocacy resources to support individuals and families affected by CASK-related intellectual disability.

In addition to CASK-related intellectual disability, OMIM includes information about other genetic disorders that cause intellectual disability, such as X-linked intellectual disability (XL-ID) and Najm syndrome. These disorders can have overlapping features with CASK-related intellectual disability, but have different genetic causes.

OMIM provides an extensive catalog of genes and diseases, allowing researchers, clinicians, and individuals to access information about various genetic disorders and their underlying genetic causes. The catalog includes references to scientific articles, available genetic testing for each condition, and additional resources for further information and support.

The interactive nature of OMIM allows users to explore the relationships between genes, diseases, and clinical features. This can help researchers and clinicians better understand the genetic basis of CASK-related intellectual disability and other related disorders.

OMIM serves as a valuable resource for those interested in learning more about CASK-related intellectual disability and other genetic disorders. Its comprehensive catalog of genes and diseases, along with supporting information from scientific articles and patient advocacy resources, provides a vital tool for understanding and managing these conditions.

Key Features of CASK-Related Intellectual Disability
Clinical Features	Genetic Cause
Intellectual disability	CASK gene mutations
Microcephaly (small head size)
Other neurological abnormalities

Scientific Articles on PubMed

Frequency of CASK-related intellectual disability – CASK-related intellectual disability is a rare disorder. According to scientific articles on PubMed, the frequency of CASK-related intellectual disability is not well known but is estimated to occur in less than 1 in 100,000 individuals. Testing for CASK-related intellectual disability can be done through genetic testing to identify mutations in the CASK gene.

Disorder and Inheritance – CASK-related intellectual disability is inherited in an X-linked recessive manner. This means that the disorder predominantly affects males, although there have been some reported cases in females as well. In males, the disorder is caused by a mutation in the CASK gene located on the X chromosome. Females can be carriers of the CASK gene mutation.

Scientific Resources and PubMed – PubMed is a valuable resource for finding scientific articles on CASK-related intellectual disability. It provides information about the cause, genetics, associated conditions, and more. PubMed can be used to search for specific articles by using keywords like CASK-related intellectual disability, CASK gene, intellectual disability, and related terms.

Advocacy and Support – For individuals and families affected by CASK-related intellectual disability, there are advocacy and support groups available. These organizations provide information, resources, and support for individuals with the condition and their families. Some examples include CASK Disorders, the CASK Foundation for CASK-Related Disorders, and the CASK Family Network.

Additional Diseases and Conditions – In addition to CASK-related intellectual disability, mutations in the CASK gene have been associated with other conditions. These include microcephaly with pontine and cerebellar hypoplasia (MICPCH), X-linked mental retardation (XLID) with or without nystagmus, and FG syndrome. Scientific articles on PubMed provide further information about these related conditions.

Genes and Brainstem Function – The CASK gene is essential for normal brain development and function. It plays a role in the formation and maintenance of synapses, which are crucial for communication between neurons in the brain. Mutations in the CASK gene can disrupt brainstem function, leading to the characteristic features of CASK-related intellectual disability.

Learning More – For more information about CASK-related intellectual disability, scientific articles on PubMed and resources like OMIM (Online Mendelian Inheritance in Man) can be referenced. These sources provide comprehensive information about the condition, its genetics, associated features, and management options.

References:

Najm J, Horn D, Wimplinger I, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Jul;40(7):1065-7. doi: 10.1038/ng.195. PubMed PMID: 18511947.
CASK Disorders. Available at: http://www.caskdisorders.org.
CASK Foundation for CASK-Related Disorders. Available at: http://www.caskfoundation.org.
CASK Family Network. Available at: http://www.caskfamilynetwork.org.
OMIM entry for CASK-Related Disorders. Available at: https://www.omim.org/entry/300749.

References

Najm, J., Horn, D., Wimplinger, I., et al. (2008). Mutations in CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet, 40(9), 1065-1067.
Mental Retardation and CASK-Related Intellectual Disability. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1379/
CASK. (2021). Retrieved from https://www.omim.org/entry/300749
CASK-related intellectual disability. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/10952/cask-related-intellectual-disability
CASK. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=CASK
CASK-Related Disorders. (n.d.). Retrieved from https://www.ultrarareadvocacy.com/what-is-an-ultra-rare-gene-disorder/ultra-rare-gene-disorder-list/cask-related-disorders/