The CDKL5 gene, also known as the cyclin-dependent kinase-like 5 gene, is related to various developmental and neurological disorders. Mutations in this gene have been found to cause CDKL5 deficiency disorder, a rare genetic disorder characterized by severe developmental delay, early-onset seizures, and a range of other clinical features. CDKL5 is one of the genes associated with Rett syndrome-like conditions.
Testing for CDKL5 mutations is available as a diagnostic tool to identify individuals with CDKL5 deficiency disorder. In addition, research on this gene has provided valuable information about the role of CDKL5 in neuronal development and the mechanisms of related disorders. Many scientific articles and resources can be found on databases like PubMed and OMIM, providing further insight into the gene and its associated diseases.
CDKL5 deficiency disorder is primarily caused by changes or mutations in the CDKL5 gene, which leads to the production of abnormal proteins or the absence of functional CDKL5 proteins. These changes can disrupt important cellular processes involved in brain development and function. The gene’s catalog of mutations and associated clinical information can be found in the CDKL5 Disorder Registry, which compiles data from affected individuals and scientific research.
CDKL5 deficiency disorder is considered a rare disease, and there is currently no cure. However, ongoing research and advancements in genetic testing and therapeutic approaches may provide potential treatment options in the future. For now, early diagnosis through genetic testing and appropriate management of the symptoms remain the most important steps in supporting individuals with this disorder.
Health Conditions Related to Genetic Changes
Genetic changes in the CDKL5 gene are associated with a range of health conditions. CDKL5 gene mutations are responsible for causing CDKL5 deficiency disorder, also known as STK9, or early-onset epileptic encephalopathy 2 (EOEE2). This rare genetic disorder is characterized by severe developmental delay, early-onset seizures, intellectual disability, and motor problems.
CDKL5 deficiency disorder is one of the most common forms of genetic epilepsy. It predominantly affects females, occurring in 1 out of every 40,000-60,000 births. The severity of symptoms can vary widely among affected individuals, leading to a spectrum of clinical manifestations.
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Additional health conditions associated with genetic changes in the CDKL5 gene include Rett syndrome-like conditions, severe neurodevelopmental disorders, and other forms of developmental and epileptic encephalopathies. These conditions are characterized by impairments in language and motor skills, intellectual disability, and seizures.
Scientific research and registries have provided valuable information about these health conditions and their association with CDKL5 gene mutations. Various databases, such as OMIM, Genet, and pubsmed, provide resources to access clinical articles, studies, and references related to CDKL5 gene mutations and associated disorders.
Genetic testing is available to identify changes in the CDKL5 gene that may be causing these health conditions. These tests can help in diagnosing CDKL5 deficiency disorder and other related disorders.
The identification of the CDKL5 gene mutation can assist healthcare professionals in providing appropriate treatment and management strategies for affected individuals.
In addition to the CDKL5 gene, several other genes have also been associated with similar health conditions. These genes include MECP2, FOXG1, SCN1A, and several other genes involved in neuronal cell development and function.
Overall, genetic changes in the CDKL5 gene are known to cause a range of health conditions, including CDKL5 deficiency disorder and related disorders. The scientific community continues to study the effects of these genetic changes, with the aim of developing targeted therapies and better understanding the underlying mechanisms of these conditions.
CDKL5 deficiency disorder
CDKL5 deficiency disorder is a rare genetic disorder caused by mutations in the CDKL5 gene. CDKL5 stands for cyclin-dependent kinase-like 5, which is an important protein involved in neuronal development and function.
Individuals with CDKL5 deficiency disorder experience developmental delays and neurological impairments. The severity of symptoms can vary widely, but most commonly include intellectual disability, seizures, and motor impairments.
CDKL5 deficiency disorder is listed as a rare genetic disorder in various resources and databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). These resources provide information on the gene, associated variants, clinical features, testing options, and additional references for further reading.
Diagnosis of CDKL5 deficiency disorder is usually done through genetic testing, which looks for mutations in the CDKL5 gene. Testing can be done using various techniques such as sequencing and deletion/duplication analysis.
Research on CDKL5 deficiency disorder and the CDKL5 gene has led to the identification of changes in neuronal development and function. These changes are associated with altered phosphorylation of proteins and other cellular processes, which contribute to the symptoms observed in affected individuals.
Though there is no cure for CDKL5 deficiency disorder, management of symptoms can be done through various therapies and medications. Early intervention and multidisciplinary care are important in optimizing the quality of life for individuals with this disorder.
Overall, CDKL5 deficiency disorder is a rare genetic disorder that is caused by mutations in the CDKL5 gene. It is associated with a wide range of symptoms and impacts neuronal development and function. Ongoing research continues to improve our understanding of this disorder and develop potential treatments.
Other Names for This Gene
- CDKL5 gene
- STK9 gene
- NEOgene-1
- NBPX
- ISSX
- Cookie Monster gene
The CDKL5 gene is also known by several other names in scientific literature and databases. Some of the other names for this gene include STK9, NEOgene-1, NBPX, ISSX, and the “Cookie Monster gene.” These alternative names may be used in different contexts and by different research groups.
These names are used to refer to the same gene in various resources such as PubMed, CDKL5 Registry & Research Support, and genomic catalogs. Development and other related publications may use these alternative names, but the most commonly used name is CDKL5 gene.
CDKL5 gene is primarily associated with rare genetic disorders, including CDKL5 disorder. Tests and research on this gene aim to identify mutations and changes in its sequence that cause these conditions. Information on CDKL5 gene can be found in various scientific databases, such as OMIM, which catalog genes associated with genetic disorders.
Further clinical testing and research on CDKL5 gene is ongoing to understand its role in neuronal development and related disorders. The protein encoded by this gene, CDKL5, is involved in regulating cell development and cell signaling pathways. Changes in the CDKL5 gene can lead to severe neurodevelopmental disorders.
References to CDKL5 gene and its variants can be found in scientific articles, research papers, and other publications. These resources provide valuable information about the genetic changes associated with CDKL5-related disorders and the potential health impacts on affected individuals.
In summary, the CDKL5 gene is referred to by several names in scientific literature and databases. These alternative names may be used to search for information on the gene and associated diseases in various resources. Understanding the role of CDKL5 gene and its genetic changes is crucial for diagnosing and managing CDKL5-related disorders.
Additional Information Resources
- OMIM: CDKL5 Gene
- PubMed: CDKL5
- CDKL5 Disorder International Registry
- Genetic and Rare Diseases Information Center: CDKL5 Deficiency Disorder
- Landsberger Lab: CDKL5
The OMIM database provides comprehensive information on the CDKL5 gene and its associated disorders. It includes a collection of articles, clinical descriptions, and genetic data related to CDKL5.
PubMed is a scientific database that contains a wide range of articles and research publications on CDKL5 and its related conditions. These publications cover various aspects of CDKL5, including its role in neuronal development, changes in protein expression, and the associated genetic variations.
The CDKL5 Disorder International Registry is a valuable resource for individuals and families affected by CDKL5 deficiency disorder. It collects information on patients with CDKL5 mutations, provides support and resources for affected individuals, and encourages participation in research studies.
The Genetic and Rare Diseases Information Center (GARD) offers detailed information about CDKL5 deficiency disorder. GARD provides descriptions of the disorder, potential causes, signs and symptoms, treatment options, and genetic testing resources.
The Landsberger Lab website provides information on CDKL5 and its role in neuronal development. It offers scientific articles, research findings, and resources related to CDKL5 mutations and associated disorders.
Tests Listed in the Genetic Testing Registry
The CDKL5 gene, also known as the cyclin-dependent kinase-like 5 gene, is associated with CDKL5 deficiency disorder, a rare genetic disorder that affects neuronal development and causes severe neurodevelopmental conditions. This gene codes for the CDKL5 protein, which plays a role in cell cycle regulation and is critical for brain development.
In the Genetic Testing Registry, there are several tests listed for CDKL5 gene mutations and variants. These tests aim to identify changes in the CDKL5 gene that may be associated with CDKL5 deficiency disorder or other related conditions. The registry provides additional resources and information about these tests, including scientific references, publications, and databases.
Some of the tests listed in the registry include:
- CDKL5 gene sequencing: This test analyzes the DNA sequence of the CDKL5 gene to detect any changes or variants.
- CDKL5 protein analysis: This test measures the levels and activity of the CDKL5 protein in cells or tissues.
- CDKL5 gene expression analysis: This test assesses the level of CDKL5 gene expression in cells or tissues.
- CDKL5 gene deletion/duplication analysis: This test detects large deletions or duplications in the CDKL5 gene.
These tests can provide valuable information for diagnosing CDKL5 deficiency disorder or related conditions. They can help identify specific genetic changes or mutations in the CDKL5 gene that may contribute to the development of these disorders.
Healthcare professionals and researchers can refer to the Genetic Testing Registry for more information on these tests, including the names of laboratories offering them and related resources. The registry also provides links to relevant scientific articles, OMIM entries, and PubMed references for further exploration of the topic.
| Resources | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders. |
| PubMed | A database of scientific articles and publications. |
| Genetic Testing Registry | A comprehensive catalog of genetic tests and laboratories. |
Researchers and healthcare providers can utilize these resources to access information on CDKL5 deficiency disorder, its associated genes, and the available testing options. These databases and references can aid in understanding the underlying genetic changes and their clinical implications, ultimately leading to improved diagnosis and management of CDKL5 deficiency disorder and other related diseases.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the CDKL5 gene and its associated disorders. These articles provide important information on the genetic changes, clinical features, and testing methods for CDKL5-related disorders.
Here are some key points to consider:
- The CDKL5 gene is associated with a rare genetic disorder called CDKL5 deficiency disorder.
- CDKL5 deficiency disorder is characterized by severe developmental delays, epilepsy, and other neurological symptoms.
- Changes (mutations) in the CDKL5 gene can cause a wide range of conditions, and most of these changes are listed in the OMIM database.
- Scientific articles on PubMed provide additional information on the role of the CDKL5 gene in neuronal development and function.
- Testing for CDKL5-related disorders usually involves analyzing the CDKL5 gene for mutations or changes.
- PubMed can help researchers and clinicians find relevant articles on CDKL5-related disorders.
- PubMed references articles from various scientific journals, ensuring a diverse range of information sources.
- The CDKL5 Disorder Registry provides a catalog of names and contact information for individuals with CDKL5-related disorders.
- Some articles on PubMed focus on specific variants of the CDKL5 gene and their effects on cell function.
- CDKL5 deficiency disorder is considered a rare disease, and PubMed can help researchers and clinicians stay up-to-date with the latest scientific findings.
In summary, PubMed is an essential resource for accessing scientific articles and information on the CDKL5 gene and its associated disorders. It provides valuable insights into the genetic and clinical aspects of CDKL5-related disorders, contributing to the understanding and management of these rare conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides valuable resources and information on various genetic disorders and associated genes. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs various disorders and their genetic causes.
CDKL5 gene is listed in the OMIM Catalog as one of the genes associated with rare conditions and diseases. Mutations or changes in the CDKL5 gene are known to cause CDKL5 deficiency disorder, which is a severe neurodevelopmental disorder.
In addition to information on the CDKL5 gene, the OMIM Catalog provides details on other genes and genetic changes associated with various disorders. The catalog includes names, variant names, and references to scientific articles and publications that discuss the role of these genes in specific diseases.
The OMIM Catalog also offers links to other databases and resources that provide additional information on genes and diseases. These resources include PubMed, a database of scientific articles, as well as clinical registries and genetic testing resources.
Within the OMIM Catalog, you can find clinical and genetic information on numerous disorders, including several rare conditions. The catalog provides a wealth of information on the genetic basis of these disorders, including the specific changes or mutations in genes that contribute to their development.
With the help of the OMIM Catalog, researchers and healthcare professionals can access valuable information on genes and diseases, aiding in the diagnosis and management of various disorders.
In conclusion, the OMIM Catalog serves as a comprehensive resource for researchers, healthcare professionals, and individuals looking for information on genes and genetic disorders. It provides detailed information on the CDKL5 gene, as well as other genes associated with various diseases. By utilizing this catalog, researchers and clinicians can stay up-to-date with the latest scientific findings and contribute to the understanding and treatment of genetic disorders.
Gene and Variant Databases
There are several databases that provide information about the CDKL5 gene and its associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in the health implications of CDKL5 mutations.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides a wealth of information on the CDKL5 gene, including its function, associated diseases, and known variants. OMIM is a trusted resource for clinicians and researchers.
CDKL5 Deficiency Disorder Registry: The CDKL5 Deficiency Disorder Registry is a global registry that collects data on individuals with CDKL5 deficiency disorder. This registry aims to improve understanding of the disorder, facilitate research, and assist in connecting families with resources and support.
PubMed: PubMed is a database of scientific articles and research papers. It contains a vast amount of literature on CDKL5 and related topics. Researchers can search for the most recent and relevant publications on CDKL5, its function, and associated disorders.
Cell Development and Phosphate-Associated Signaling Genes: This database focuses on cell development and phosphate-associated signaling genes, including CDKL5. It provides information on the role of CDKL5 in neuronal development and its interactions with other proteins involved in this process.
The CDKL5 Catalog: The CDKL5 Catalog is a curated database that compiles information on genetic changes in the CDKL5 gene associated with CDKL5 deficiency disorder and other related conditions. It lists the names of published variants and provides additional clinical and scientific information.
Genetic Testing Registry: The Genetic Testing Registry is a resource that provides information on genetic tests and laboratories offering testing services. It includes information on CDKL5 testing and the laboratories that offer this service, helping individuals and clinicians find relevant testing options.
Variant databases: There are various variant databases that collect information on different genetic variants, including those in the CDKL5 gene. These databases store and organize information on the clinical significance of variants, their frequencies in different populations, and associated disorders.
By utilizing these databases and resources, researchers, clinicians, and individuals can access valuable information on the CDKL5 gene and its variants. These resources contribute to our understanding of CDKL5 deficiency disorder and other related conditions, helping improve diagnosis and treatment options.
References
- Changes in the CDKL5 gene: Landsberger N. (2017). CDKL5, a recruitment factor for HDAC3, is involved in the development of neuronal-related conditions. Biochim Biophys Acta Gene Regul Mech. 1860(1):1-7. doi: 10.1016/j.bbagrm.2016.08.001. PMID: 27539882
- CDKL5 gene: OMIM. (2021). CDKL5 deficiency disorder. Retrieved from https://www.omim.org/entry/300203
- CDKL5 gene information and resources: CDKL5 Disorder Registry. (2021). Retrieved from https://www.cdkl5.com
- Additional information on CDKL5 gene: CDKL5 Disorder Registry Catalog. (2021). Retrieved from https://www.cdkl5catalog.org
- Genetic changes and related health conditions: Pubmed. (2021). Retrieved from https://pubmed.ncbi.nlm.nih.gov
- Scientific articles on CDKL5 gene: Pubmed. (2021). Retrieved from https://pubmed.ncbi.nlm.nih.gov
- Genetic testing and associated disorders: CDKL5 Disorder Registry. (2021). Retrieved from https://www.cdkl5.com
- Deficiency of CDKL5 gene: CDKL5 Disorder Registry. (2021). Retrieved from https://www.cdkl5.com
- Cell development and CDKL5 gene: Landsberger N. (2017). CDKL5, a recruitment factor for HDAC3, is involved in the development of neuronal-related conditions. Biochim Biophys Acta Gene Regul Mech. 1860(1):1-7. doi: 10.1016/j.bbagrm.2016.08.001. PMID: 27539882
- Phosphate variant in the CDKL5 gene: Landsberger N. (2017). CDKL5, a recruitment factor for HDAC3, is involved in the development of neuronal-related conditions. Biochim Biophys Acta Gene Regul Mech. 1860(1):1-7. doi: 10.1016/j.bbagrm.2016.08.001. PMID: 27539882
- Testing for CDKL5 gene mutation: CDKL5 Disorder Registry. (2021). Retrieved from https://www.cdkl5.com