The CASK gene is a gene that is associated with intellectual disability. It is listed in various databases and scientific articles as being related to intellectual disability and other genetic conditions. The gene provides instructions for making a protein that is important for the development and function of the brain.
Intellectual disability is a condition characterized by below-average intellectual function and adaptive behavior. It can cause difficulties with learning, problem-solving, and understanding abstract concepts. CASK-related intellectual disability is caused by changes in the CASK gene.
There are several resources available for more information on the CASK gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the CASK gene and CASK-related syndrome. The Genetic and Rare Diseases Information Center (GARD) provides additional resources and information on CASK-related intellectual disability and other genetic diseases.
Testing for changes in the CASK gene can be done through genetic testing. This testing can be helpful in diagnosing CASK-related intellectual disability and determining the best course of treatment and management for individuals with this condition. Genetic testing can also be used for carrier testing and prenatal testing.
References: PubMed, OMIM, GARD, scientific articles, and other databases in the scientific network.
Health Conditions Related to Genetic Changes
Genetic changes can be responsible for a variety of health conditions. These changes can affect different genes that play a role in various bodily functions. Understanding the genetic changes associated with certain health conditions can be crucial for diagnosis, treatment, and genetic counseling.
There are several resources available to gather information about health conditions related to genetic changes. Databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and FG Gene provide a wealth of articles, research, and other intellectual resources. These databases contain information about various genetic conditions, including those related to the CASK gene.
The CASK gene is associated with a range of health conditions, including intellectual disability, oculomotor apraxia, and autism spectrum disorders. The CASK Gene Testing Registry is a catalog of genetic tests available for conditions related to this gene. It provides information about testing options, laboratories, and references for further information.
In addition to the CASK gene, there are many other genes related to health conditions. The Calcium/Calmodulin-dependent Serine Protein Kinase (CASK) network is an example of a network of genes involved in various diseases. This network includes genes related to intellectual disability, epilepsy, and other neurological disorders.
When researching genetic changes and health conditions, it is important to consult reliable sources and references. The information available in these databases and resources can help healthcare professionals and researchers better understand the causes, symptoms, and treatments of genetic conditions.
Overall, studying and understanding genetic changes related to health conditions can lead to advancements in medical knowledge and the development of targeted treatments and therapies.
CASK-related intellectual disability
CASK-related intellectual disability is a condition caused by mutations in the CASK gene. The CASK gene encodes a protein that is involved in the development and functioning of the brain. Mutations in this gene can lead to a range of intellectual and developmental disabilities.
Individuals with CASK-related intellectual disability may have mild to severe intellectual disability and developmental delays. They may also have additional features such as oculomotor abnormalities, seizures, and behavioral problems.
Diagnosis of CASK-related intellectual disability can be confirmed through genetic testing, which can detect changes in the CASK gene. Genetic testing can be done with a blood sample and can provide important information for families and health care providers.
There are several resources available for individuals and families affected by CASK-related intellectual disability. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic variant associated with the condition. The Genetic and Rare Diseases Information Center (GARD) provides a catalog of articles on this topic, including scientific references and resources for further reading.
| Resources | Information |
|---|---|
| OMIM | Information on genetic variant |
| GARD | Catalog of articles and scientific references |
In addition to these resources, individuals with CASK-related intellectual disability may benefit from support services such as special education, speech therapy, and occupational therapy. Early intervention and ongoing support can help individuals with CASK-related intellectual disability reach their full potential.
It is important for individuals and families affected by CASK-related intellectual disability to work with their healthcare providers to develop a personalized treatment plan. This may include regular monitoring of developmental progress and management of associated conditions.
References:
- “CASK Gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/gene/CASK.
- “CASK Gene – GeneCards | CASK Protein | CASK Antibody.” GeneCards, www.genecards.org/cgi-bin/carddisp.pl?gene=CASK.
FG syndrome
FG syndrome is a genetic condition that is characterized by intellectual disability and various physical abnormalities. It is part of a group of genetic disorders known as CASK-related conditions, which are caused by changes in the CASK gene.
The CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). This protein plays a role in the development and functioning of certain brain cells. It is involved in the formation of synapses, which are the connections between nerve cells. CASK also helps regulate the release of neurotransmitters, which are chemicals that transmit signals in the brain.
In individuals with FG syndrome, changes in the CASK gene result in a variant of the CASK protein that is unable to function properly. This disruption in protein function leads to the intellectual disability and physical abnormalities associated with the syndrome.
Symptoms and Diagnosis
FG syndrome is characterized by a range of symptoms that can vary in severity. Common features include intellectual disability, speech and language delays, and distinctive facial features. Other physical abnormalities may include abnormalities of the hands and feet, oculomotor apraxia (difficulty moving the eyes), and poor muscle tone.
Diagnosis of FG syndrome is based on clinical evaluation, medical history, and the presence of characteristic physical and intellectual features. Genetic testing can confirm the diagnosis by identifying changes in the CASK gene.
Resources for Additional Information
For additional information on FG syndrome and other CASK-related conditions, the following resources may be helpful:
- CASK-related conditions catalog and databases: This online resource provides a comprehensive catalog of CASK-related conditions, including FG syndrome. It includes information on the genetic changes associated with each condition and links to additional resources.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a database that provides detailed information on genetic conditions, including FG syndrome. It includes descriptions of related genes and genetic variants, as well as links to scientific articles.
- PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. It can be useful for finding research articles on FG syndrome and related topics.
- Genetic testing: Genetic testing can be done to confirm a diagnosis of FG syndrome. A healthcare provider can provide information on available testing options and help determine if testing is appropriate.
- FG syndrome registry: The FG syndrome registry is a research network that collects information on individuals with FG syndrome. It aims to improve understanding of the condition and facilitate research efforts.
It is important to note that FG syndrome is a rare condition, and information and resources may be limited. Consulting with a healthcare provider or genetic counselor can provide personalized information and support.
Other Names for This Gene
The CASK gene, also known as calcium/calmodulin-dependent serine protein kinase, has other names and variant names in scientific literature and databases.
- CASK-related disorders
- CASK-related intellectual disability
- CASK gene without CATU1
- CASK-related oculomotor apraxia
- CASK-related syndrome
- FG gene
- KIAA0518 gene
- MGC102842 gene
These names provide additional information and references for testing, catalog, and registry of genetic diseases.
The changes listed in genes related to the CASK gene are associated with intellectual disability, oculomotor apraxia, and other conditions.
For more resources and information on CASK-related disorders and genetic diseases, please refer to the following databases and publications:
- OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
- PubMed – a database of scientific articles and references
- Genetic Testing Registry – a resource for information on genetic testing
This gene is part of a network of genes involved in the control of calcium/calmodulin-dependent signaling pathways and is related to intellectual disability and other genetic conditions.
Additional Information Resources
For additional information on the CASK gene and related conditions, disabilities, and diseases, the following resources provide useful information:
- CASK-related Diseases and Conditions: This includes a list of conditions and disabilities that are related to changes in the CASK gene. It provides information on the genetic changes, symptoms, and available testing options.
- PubMed: PubMed is a scientific database that includes articles and other scientific literature on the CASK gene, related genes, and intellectual disabilities. It provides access to a wide range of research publications and references.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It includes information on the CASK gene and related conditions, as well as names and variants of the gene.
- Genetic Testing Registries: There are several genetic testing registries that provide information on available tests for the CASK gene and related conditions. These registries can help individuals and healthcare providers find testing options and resources.
- FG Gene Network: The FG Gene Network is a network of researchers and professionals focused on genetic diseases and disabilities. They provide resources and information on the CASK gene and related conditions.
These resources can provide valuable information on the CASK gene, related genes, and associated conditions. They can help individuals and healthcare providers make informed decisions regarding testing, treatment, and support for individuals with CASK-related intellectual disabilities and other related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides information about the genetic tests for CASK gene-related diseases and conditions. These tests are listed in the registry along with additional information such as the names of the genes and variants tested, the scientific and common names of the conditions, and the resources available for further information.
Currently, there are several tests listed in the registry that focus on the genetic variant of the CASK gene. These tests can help diagnose CASK-related conditions such as intellectual disability, oculomotor disability, and other neurological changes.
The information provided in the registry includes the names of the genes and variants tested, along with the scientific and common names of the associated conditions. This information can be helpful for individuals and healthcare providers who are looking for genetic testing options for CASK-related conditions.
In addition to the Genetic Testing Registry, there are other databases and resources available that provide information on CASK gene-related conditions. These resources include OMIM, PubMed, and various scientific articles and references.
The Genetic Testing Registry is a valuable tool for understanding the genetic factors involved in CASK-related diseases and conditions. It provides information on the tests available, the genes and variants tested, and the associated conditions. This information can be used to improve diagnosis and management of CASK-related conditions, and to further scientific research in this area.
Scientific Articles on PubMed
The PubMed database provides a comprehensive collection of scientific articles on genetic conditions, including CASK-related disorders. These articles offer valuable insights into the study of the CASK gene and its role in various diseases and disabilities.
Without proper functioning of the CASK gene, individuals may experience cognitive impairment and intellectual disability. Studies have identified various CASK gene variants that are associated with neurodevelopmental disorders, such as CASK-related intellectual disability and oculomotor apraxia.
The PubMed registry lists numerous references on CASK-related conditions, including studies that investigate the genetic basis of these disorders and potential treatments. Researchers can access this network of information to gather additional data on CASK-related diseases, their symptoms, and potential therapeutic approaches.
Researchers and healthcare professionals can utilize PubMed to access a range of resources, including the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides detailed information on genetic disorders, including CASK-related conditions, offering valuable insights into the underlying genetic causes and potential treatment options.
Additionally, PubMed offers access to other databases and testing resources that aid in the diagnosis and management of CASK-related disorders. These resources facilitate genetic testing, enabling healthcare providers to identify changes or mutations in the CASK gene.
Calcium-calmodulin-dependent kinase-related genes are also frequently mentioned in scientific articles on PubMed. These genes have a vital role in neuronal development and synaptic plasticity, often overlapping with the genetic mechanisms underlying CASK-related conditions.
In summary, PubMed serves as a valuable resource for researchers and healthcare professionals seeking scientific articles on CASK-related disorders and related genetic conditions. Its extensive collection of articles and databases offers a wealth of information on the CASK gene, its role in neurodevelopmental disabilities, and potential therapeutic approaches.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genes and diseases related to various genetic conditions. OMIM, also known as Online Mendelian Inheritance in Man, is a database that provides information on the relationships between genetic changes and diseases.
The catalog includes a wide range of genes and diseases, including but not limited to CASK-related disorders such as oculomotor disability and intellectual disability. The gene CASK is a calcium/calmodulin-dependent serine protein kinase gene. Changes in this gene have been associated with a variant of syndromic X-linked intellectual disability.
In addition to the CASK gene, the catalog lists other genes and their related diseases. It serves as a useful resource for scientists, researchers, and health professionals involved in genetic testing and studying genetic conditions. The catalog provides references to scientific articles, as well as links to other databases such as PubMed for further information.
Users can search the catalog by gene names, diseases, or both, allowing for easy access to information on specific conditions. The catalog also offers testing resources and information on available tests for various genetic conditions. This makes it a valuable tool for genetic testing laboratories and healthcare professionals.
Overall, the Catalog of Genes and Diseases from OMIM plays a crucial role in understanding the genetic basis of diseases, including CASK-related disorders, and provides a wealth of information to support research and clinical practice in the field of human genetics.
Gene and Variant Databases
When it comes to genetic testing for CASK gene-related intellectual disability, there are several databases available that provide valuable information and resources. These databases help researchers, scientists, and healthcare professionals to study and understand the genetic changes associated with this condition.
Here are some of the key gene and variant databases for CASK gene-related intellectual disability:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs information on all known human genes and genetic conditions. It provides detailed information on the CASK gene and its associated variants, as well as related articles and scientific references.
- PubMed: PubMed is a well-known and widely-used database of biomedical literature. It contains a vast collection of scientific articles and research papers on various genetic diseases, including CASK gene-related intellectual disability. Researchers can access these articles to keep themselves updated with the latest discoveries.
- CASK-related Genetic Testing Registry: This registry is specifically focused on CASK gene-related intellectual disability and provides information on available genetic tests for this condition. It includes details about the tests, control samples, and other relevant information for genetic testing.
- Catalog of Genes and Diseases: This database lists all the known genes and diseases, including CASK gene-related intellectual disability and oculomotor syndrome, that have been identified to date. It provides information on the genetic changes associated with these conditions.
- CaMK (Calcium/Calmodulin-dependent Kinase) Network: The CaMK network is a resource for researchers and scientists studying calcium/calmodulin-dependent kinases and related genes. It includes information on various genes, including CASK, that are involved in calcium signaling pathways.
These gene and variant databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information about CASK gene-related intellectual disability. They provide essential information on the genetic changes associated with this condition, as well as references to scientific articles and additional resources for further exploration.
References
- Information on CASK gene from the Cask Gene Registry Network
- Additional information about CASK gene is available on other genetic databases
- This provides resources for testing and control of CASK-related syndromes and other genetic diseases
- References to scientific articles on CASK gene can be found on PubMed and OMIM
- Listed below are some related genes and databases for further information:
| Gene | Database |
|---|---|
| CASK | FG Gene Catalog |
| Other CASK-related genes | FG Gene Catalog |
| Oculomotor genes | FG Gene Catalog |
References to health-related databases and resources for CASK-related conditions:
- Calcium-calmodulin-dependent protein kinase II (CaMKII) mentioned in relation to CASK gene
- Retardation and intellectual disability
- Various scientific articles on CASK gene variants
- Testing and control resources for CASK-related syndromes and other genetic diseases
Note: This is not an exhaustive list of all the conditions and genes related to CASK. For more comprehensive information, please refer to the mentioned databases and resources.