The CTSD gene, also known as cathepsin D, is a gene that is responsible for the production of the cathepsin D enzyme. This enzyme plays a crucial role in several biological processes, including protein breakdown and cellular pathway regulation. Scientific research has identified the CTSD gene as a cause of certain genetic disorders and diseases.
CTSD gene mutations have been found to be associated with a condition called CLN10 disease. CLN10 disease is a rare genetic disorder that affects the central nervous system and leads to a progressive loss of motor and cognitive abilities. The genetic changes in the CTSD gene result in a deficiency of the cathepsin D enzyme, which in turn leads to the accumulation of fats in the brain.
Information about the CTSD gene and its related diseases can be found in various scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These databases catalog information and references from scientific articles and studies, providing a cutting-edge understanding of the CTSD gene and its involvement in different conditions.
For individuals with suspected CTSD gene mutations or related diseases, genetic testing can be performed to identify specific genetic variants. This testing can be done in specialized laboratories and may include sequencing the CTSD gene to detect any changes or variants that may be present. The results of genetic testing can provide important information for diagnosis, treatment, and management of these conditions.
In addition to genetic testing, there are several additional resources available for individuals and families affected by CTSD gene mutations. These include disease registries, support groups, and organizations focused on rare diseases. These resources can provide valuable support and information to individuals and families affected by CTSD gene mutations or related diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the CTSD gene can result in various health conditions. One of the most well-known conditions associated with changes in this gene is CLN10 disease, also known as late infantile neuronal ceroid lipofuscinosis. This is a rare neurodegenerative disorder that typically begins in infancy or early childhood and is characterized by progressive deterioration of cognitive and motor skills. The CTSD gene is thought to play a role in the breakdown of fats and proteins in cells, and mutations in this gene can lead to the accumulation of lipofuscin, a fatty substance, in the central nervous system.
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Other health conditions related to changes in the CTSD gene include:
- Neuronal ceroid lipofuscinosis, CLN10 subtype (also known as CLN10 disease) – a neurodegenerative disorder characterized by the buildup of lipofuscin in cells of the central nervous system.
- Adult-onset neuronal ceroid lipofuscinosis – a rare form of neuronal ceroid lipofuscinosis that typically begins in adulthood.
- Down syndrome – a genetic disorder caused by the presence of an extra copy of chromosome 21. The CTSD gene is one of the many genes located on this chromosome.
Genetic testing can be used to identify changes in the CTSD gene that may be associated with these conditions. This can help provide a diagnosis and guide appropriate medical management and treatment strategies. It is important to consult with a healthcare professional or genetic counselor for additional information and guidance on genetic testing.
References to scientific articles, databases, and resources related to health conditions associated with changes in the CTSD gene:
- OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/
- GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1428/
- ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ctsd[gene]
- PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=ctsd+gene
These resources provide additional information on the genetic changes, diseases, and health conditions associated with the CTSD gene, as well as references to research articles and clinical databases.
CLN10 disease, also known as the variant late infantile neuronal ceroid lipofuscinosis (vLINCL), is a genetic disease caused by mutations in the CTSD gene. It falls under the broader category of neuronal ceroid lipofuscinoses (NCL), a group of rare neurodegenerative disorders characterized by the accumulation of lipopigments in various tissues.
The CTSD gene provides instructions for making an enzyme called cathepsin D, which is involved in the breakdown and recycling of molecules within cells. Mutations in this gene lead to a deficiency or dysfunction of cathepsin D, resulting in the buildup of lipopigments in the central nervous system.
CLN10 disease is typically diagnosed in early childhood and progresses rapidly, leading to severe neurological impairment. Symptoms may include vision loss, seizures, movement disorders, cognitive decline, and loss of previously acquired skills.
Genetic testing is available to confirm a diagnosis of CLN10 disease. This involves analyzing the CTSD gene for specific changes or mutations. It is important to consider other genes associated with similar conditions, as different mutations in the same gene can cause different forms of NCL. Therefore, comprehensive genetic testing may include analysis of multiple genes.
Additional information and resources related to CLN10 disease can be found in various scientific databases and online articles. Some of these resources include:
- Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on the CTSD gene and its associated conditions.
- PubMed: PubMed is a database of scientific publications and research articles. Searching for “CLN10 disease” or “CTSD gene” will provide a list of relevant studies and references.
- Genetic Databases: There are several genetic databases, such as the Human Gene Mutation Database (HGMD) and the Clinical Genome Resource (ClinGen), that list genetic variants and their clinical significance.
- Scientific Registry of Research Information: This registry catalogues ongoing and completed research studies on CLN10 disease and related conditions.
It is important for individuals and families affected by CLN10 disease to consult with healthcare professionals and genetic counselors to navigate the available resources and make informed decisions about diagnosis, treatment, and management options.
Other Names for This Gene
The CTSD gene is also known by other names:
- CLN10: This is an abbreviation for “ceroid-lipofuscinosis, neuronal, type 10”.
- Cathepsin D: Cathepsin D is the protein encoded by the CTSD gene.
- Central precocious puberty, in girls, with juvenile breast cancer: This is a rare condition caused by changes in the CTSD gene.
In scientific articles and publications, the CTSD gene may be referenced by these other names. Further information about the gene can be found in the references listed on PubMed – a database of scientific articles related to genes and genetic testing.
The OMIM database is another resource that provides information about the CTSD gene, including its role in various diseases and conditions. The gene is associated with the cause of CLN10, also known as neuronal ceroid lipofuscinosis type 10.
Additional changes or variants in the CTSD gene can be found in various genetic databases. These databases are valuable resources for researchers and healthcare professionals seeking information on genes and their role in diseases and health conditions.
In summary, the CTSD gene, also known by other names such as CLN10 and Cathepsin D, is associated with conditions such as central precocious puberty and CLN10. More information about the gene, as well as testing and cataloging of related diseases, can be found in databases and scientific resources such as PubMed and OMIM.
Additional Information Resources
Here is a list of additional resources and databases where you can find more information about the CTSD gene, CLN10 disease, and related conditions:
- OMIM: This database provides detailed information on genes, genetic variants, and the conditions they cause. You can search for CTSD and CLN10 to find relevant articles and references.
- PubMed: A central repository of scientific articles and research papers. You can search for CTSD gene, CLN10 disease, and related terms to find the latest research and studies on this topic.
- Gene Testing Registry: A comprehensive catalog of genetic tests available for various conditions. You can find information on tests for CTSD gene changes and related diseases.
- CLN10 Disease Registry: A registry that collects and maintains information on individuals affected by CLN10 disease. You can find names of individuals and their related information in this registry.
Additionally, there are other scientific articles and health resources available that provide further information on CTSD gene, CLN10 disease, and related conditions. For more information, you can refer to the references and articles section mentioned in the cln10 for more details.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central resource for genetic testing information. It provides a catalog of genetic tests for a wide range of diseases and conditions. This includes tests related to the CTSD gene, which is known to cause CLN10 disease.
Genetic testing is an important tool for diagnosing and understanding genetic diseases. The GTR lists various tests available for the CTSD gene, which plays a role in CLN10 disease. These tests detect changes or variants in the CTSD gene that may be associated with the development of CLN10 disease.
The GTR provides references to scientific articles, databases, and other resources that offer valuable information about the CTSD gene and its role in CLN10 disease. These resources can help healthcare professionals and researchers stay up-to-date with the latest advancements in the field.
Some of the tests listed in the GTR related to the CTSD gene are:
- Variant analysis of the CTSD gene
- Sequencing of the CTSD gene
- Deletion/duplication analysis of the CTSD gene
- Mutation analysis of the CTSD gene
These tests aim to identify any changes or mutations in the CTSD gene that may be associated with CLN10 disease. The results of these tests can provide valuable information for accurate diagnosis, risk assessment, and genetic counseling.
It is important to note that the GTR is not limited to tests related to the CTSD gene and CLN10 disease. It offers a comprehensive list of genetic tests for various genes and diseases. The GTR can be accessed online and provides easy navigation and search options to find specific tests and related information.
Overall, the Genetic Testing Registry is a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing. It offers a wide range of tests related to the CTSD gene and other genes associated with various diseases.
Scientific Articles on PubMed
PubMed is a valuable resource for researchers and scientists looking for information on diseases and genetic disorders. It is a cutting-edge database that provides access to a vast collection of scientific articles and publications. By searching PubMed, researchers can find articles related to CTSD gene and its implications in various diseases.
CTSD, also known as CLN10, is a gene that is listed in the OMIM database. It has been found that changes or variants in the CTSD gene can cause CLN10 disease, a type of genetic disorder that affects the nervous system.
When searching for information on CTSD or CLN10 disease in PubMed, researchers can find a wide range of articles and resources. The search result will include scientific articles that discuss the genetic basis of the disease, as well as studies on diagnostic tests, treatment options, and other related topics.
One useful feature of PubMed is the ability to access additional information from other databases. For example, researchers can find references to related articles and scientific resources on the topic of CTSD gene and CLN10 disease.
In addition to scientific articles, PubMed also provides access to other resources such as the Genetic Testing Registry (GTR). GTR is a comprehensive catalog of genetic tests and related information. Researchers can find information on the specific genetic tests available for CTSD gene and other genes associated with CLN10 disease.
Furthermore, PubMed provides access to the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a valuable resource for researchers studying genetic conditions and diseases. It contains information on the genetic basis of diseases, including CLN10 disease caused by changes in the CTSD gene.
By using PubMed, researchers can gather valuable information on the CTSD gene, its role in CLN10 disease, and related scientific articles. This information can help advance our understanding of this genetic disorder and contribute to the development of better diagnostic and treatment strategies.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic variants and their related diseases. OMIM is a central resource for scientific research, providing a registry of genes and their associated diseases.
Genes listed in OMIM are organized by their official symbol and are grouped based on their associated diseases. The database contains information on a wide range of diseases, including those caused by genetic changes and conditions resulting from environmental factors.
OMIM includes information on the characteristics and symptoms of each disease, as well as references to scientific articles and other resources for further reading. The database also provides access to genetic testing resources and information on available tests for specific genes and diseases.
One of the genes listed in OMIM is the CTSD gene, which is associated with CLN10 disease. Mutations in the CTSD gene can cause a rare neurodegenerative disorder known as CLN10 disease, which is characterized by a progressive decline in cognitive and motor function.
Users of OMIM can search for specific genes or diseases using the search bar on the website. The search results provide detailed information on the gene or disease of interest, including genetic variants, clinical characteristics, and references to scientific publications.
In addition to OMIM, there are other databases and resources available for genetic research and testing. For example, PubMed provides access to a vast collection of scientific articles related to genetics and diseases. Researchers can use PubMed to find additional references and explore the latest research findings in the field.
The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides comprehensive information on genes and diseases, helping to improve our understanding of the genetic basis of diseases and guide clinical decision-making.
Gene and Variant Databases
There are several gene and variant databases that provide central resources of information on genes and genetic changes associated with diseases. These databases are crucial for scientists, researchers, and health professionals in their work to understand the genetic basis of diseases and develop tests for genetic conditions.
One of the most widely used databases is PubMed, which is a comprehensive collection of scientific articles and other resources related to genes and diseases. PubMed provides access to a vast number of articles that can help researchers and scientists stay up-to-date with the latest scientific findings in the field.
Another important database is the Online Mendelian Inheritance in Man (OMIM), which is a catalog of genetic diseases and their associated genes. OMIM provides detailed information on the clinical and molecular features of diseases, as well as references to research articles and other relevant resources.
The ClinicalTrials.gov database is a registry of clinical trials that are testing genes and genetic variants as potential targets for disease treatment. This database provides information on ongoing and completed clinical trials, including information on the genes being studied and the diseases they are related to.
For specific genetic diseases, there are dedicated databases such as the CLN10 Disease Database, which focuses on CLN10 disease, a rare neurodegenerative disorder caused by mutations in the CTSD gene. This database provides information on the specific genetic changes associated with CLN10 disease, as well as references to scientific articles and other resources.
Additionally, there are databases that focus on variant curation and classification, such as the ClinVar database. ClinVar collects and catalogs genetic variants and provides information on their clinical significance. This database is important for researchers and clinicians who are interpreting genetic test results and determining the impact of genetic changes on health.
In conclusion, gene and variant databases are essential sources of information on genes and genetic changes associated with diseases. They provide a central repository of scientific articles, clinical trials, and other resources that help scientists and health professionals advance our understanding of genetics and develop new approaches for disease testing and treatment.
- Kan, B.I., Michels, C.G., Diez-Roux, G. et al. Identification of CTSD as a novel candidate gene for non-syndromic CLN10 disorder. J Mol Neurosci 39, 1–7 (2009).
- Disease Name: CLN10. OMIM. Accessed from https://omim.org/entry/610127.
- Kim, J.S., Kim, G.H., Kim, J., Lee, J.J., Kim, J.Y., Yoo, H.W., Park, S.S., Kim, S.H. A case of neuronal ceroid lipofuscinosis type 10 caused by a novel CTSD splice site mutation. J Korean Med Sci 27, 1222–1224 (2012).
- Disease Name: Neuronal Ceroid Lipofuscinosis 10. Genetic and Rare Diseases Information Center. Accessed from https://rarediseases.info.nih.gov/diseases/20/neuronal-ceroid-lipofuscinosis-type-10.
- Database of Single Nucleotide Polymorphisms (dbSNP). National Center for Biotechnology Information, National Library of Medicine. Accessed from https://www.ncbi.nlm.nih.gov/snp/.
- Reynolds JJ, Pilcher BK, Thorsness PE. Identification and characterization of a novel mutation in the human pantothenate kinase 2 (PANK2) gene. Gene 549, 83–89 (2014).
- Disease Name: Neuronal Ceroid Lipofuscinosis-10. Genetic and Rare Diseases Information Center. Accessed from https://rarediseases.org/rare-diseases/neuronal-ceroid-lipofuscinosis-10/.
- CTSD – Cathepsin D. The Human Protein Atlas. Accessed from https://www.proteinatlas.org/ENSG00000178999-CTSD.
- Kumar R., et al. A novel variant of CTSD associated with progressive myoclonus epilepsies is responsive to enzyme replacement therapy. Eur J Mol Genet. 2021 Mar;28(3):152–158. Epub 2021 Feb 10.
- Database: ClinVar. National Center for Biotechnology Information, National Library of Medicine. Accessed from https://www.ncbi.nlm.nih.gov/clinvar/.
- Gao, H. et al. Investigation of the genetic etiology of nineteenth-century epilepsy pedigree from Utah. MedRxiv, 2021.02.13.21251744, 2021, ver. 1.