CLN5 disease, also known as neuronal ceroid lipofuscinosis 5 (NCL5), is a rare genetic condition that causes progressive damage to nerve cells in the brain. It is one of the many forms of neuronal ceroid lipofuscinosis, a group of diseases collectively known as NCL. CLN5 disease is caused by mutations in the CLN5 gene, which provides instructions for making a protein called ceroid-lipofuscinosis, neuronal 5 (CLN5).

The frequency of CLN5 disease is not well understood, but it is considered to be a rare condition. Studies have shown that the disease is more common in certain populations, such as those of Northern European descent. The exact causes and inheritance pattern of CLN5 disease are also still being researched.

Patients with CLN5 disease typically experience a range of symptoms, including loss of cognitive function, seizures, motor abnormalities, and visual impairment. The disease progresses over time, leading to further neurological decline and ultimately a shortened lifespan.

Information about CLN5 disease can be found in scientific articles and research papers. Resources such as PubMed and ClinicalTrials.gov provide additional information about ongoing studies and clinical trials related to the disease. Genetic testing is available to confirm a diagnosis of CLN5 disease, and support and advocacy organizations, such as the CLN5 and Neuronal Ceroid Lipofuscinosis Society, can provide resources and support for patients and their families.

Overall, CLN5 disease is a rare genetic condition that causes progressive damage to nerve cells in the brain. Research and genetic testing can provide more information about this condition, and support resources are available to assist patients and their families in managing the disease.

Frequency

ClN5 disease is a rare genetic condition that causes loss of proteins in cells, damaging normal cell function. The frequency of ClN5 disease is low, with only a few reported cases worldwide.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Testing for ClN5 disease is available and can be done through genetic testing. Inheritance of ClN5 disease follows an autosomal recessive pattern, meaning that both parents must carry a copy of the affected gene for their child to inherit the condition.

The disease is named after the gene that is associated with its development, CLN5. Mutations in the CLN5 gene lead to the production of abnormal proteins, which accumulate within the cells and cause the clinical symptoms of the disease.

Since ClN5 disease is rare, there is limited information available about the condition. However, scientific articles and research studies can be found on platforms such as PubMed and OMIM, providing more insights into the disease and potential treatment options.

The rareness of ClN5 disease also means that there are limited resources and support available for patients and their families. However, advocacy groups and research centers dedicated to rare diseases may provide additional information and support.

Clinical trials may also be conducted to learn more about the disease and test potential treatments. Information about ongoing clinical trials can be found on websites such as ClinicalTrials.gov.

In summary, ClN5 disease is a rare genetic condition with a low frequency of occurrence. Testing for the disease is available, and it is inherited in an autosomal recessive manner. The disease is associated with mutations in the CLN5 gene, leading to the accumulation of abnormal proteins within cells. Limited resources and support are available for patients and families affected by ClN5 disease.

Causes

The main cause of CLN5 disease is a mutation in the CLN5 gene. This gene provides instructions for making a protein that is involved in the normal functioning of cells. Mutations in the CLN5 gene lead to the production of a nonfunctional or abnormal protein, which disrupts the normal cellular processes.

Research has shown that the CLN5 gene is associated with a group of diseases collectively known as neuronal ceroid lipofuscinoses (NCLs). Each NCL disease is caused by mutations in different genes, but they all share similar symptoms and characteristics.

The CLN5 gene is located on chromosome 13 and encodes a protein called ceroid-lipofuscinosis, neuronal 5. It is involved in the breakdown and recycling of proteins within cells.

Genetic testing and analysis of the CLN5 gene can confirm a diagnosis of CLN5 disease. This information can also be used for genetic counseling, as CLN5 disease is inherited in an autosomal recessive manner.

Additional information about the CLN5 gene, its associated diseases, and the inheritance pattern can be found in the OMIM catalog (Online Mendelian Inheritance in Man). The OMIM catalog provides a comprehensive database for genetic information and is a valuable resource for clinicians and researchers.

Scientific studies and research articles on CLN5 disease can be found on PubMed, a database of scientific literature. Clinical trials and studies related to CLN5 disease can be found on ClinicalTrials.gov.

Support and advocacy organizations such as the CLN5 Disease Foundation provide resources and information for individuals and families affected by this condition. They offer support, educational materials, and connections to other families and researchers.

Learn more about the gene associated with CLN5 disease

The CLN5 gene, also known as the ceroid-lipofuscinosis, neuronal 5 gene, is associated with CLN5 disease. This gene is located on chromosome 13 and is responsible for encoding a protein called CLN5.

The condition CLN5 disease is a rare genetic disorder that primarily affects the nervous system. It is one of the collectively known diseases called neuronal ceroid lipofuscinoses (NCLs), which cause a gradual loss of brain cells.

Research on the CLN5 gene and its associated disease is ongoing, and there are additional names and codes for this condition that can be found in various databases such as OMIM and the NCBI Gene catalog. These resources provide valuable information on the genetic inheritance patterns, clinical features, and molecular characteristics of CLN5 disease.

See also  SLC29A3 gene

Studies have shown that mutations in the CLN5 gene can lead to a deficiency or a damaged form of the CLN5 protein, which disrupts normal cellular processes and causes the accumulation of lipopigments in the brain and other tissues.

Testing for mutations in the CLN5 gene can be done through genetic testing laboratories, and it is recommended for individuals who show symptoms consistent with CLN5 disease or have a family history of the condition. Genetic counseling is also available for individuals and families who may be affected by CLN5 disease.

Since CLN5 disease is a rare condition, there are limited scientific articles and studies available specifically on this gene. However, there are resources and support available through advocacy and patient organizations, such as the NCL Foundation and CLN5 Patient Families for Additional Resources and Education (CLN5 PFARE).

Resources for CLN5 disease
Resource Description
OMIM A comprehensive catalog of human genes and genetic disorders, including information on CLN5 disease
PubMed A database of scientific articles and research studies, which may include studies on CLN5 disease
ClinicalTrials.gov An online registry of clinical trials, which can provide information on ongoing and upcoming research related to CLN5 disease
NCBI Gene A database of genes and their associated information, including details on the CLN5 gene

By learning more about the CLN5 gene and its role in CLN5 disease, researchers hope to develop better diagnostic tools, treatments, and therapies for individuals affected by this rare condition. It is important to stay updated with the latest research and information from reputable sources.

Inheritance

CLN5 disease is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the CLN5 gene mutation in order for their child to develop the disease.

More information about the inheritance of CLN5 disease can be found in scientific articles and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information on the genetic causes and inheritance patterns of various diseases.

CLN5 disease is caused by mutations in the CLN5 gene. The CLN5 gene provides instructions for the production of a protein called ceroid-lipofuscinosis, neuronal 5 (CLN5). This protein is involved in the normal functioning of cells and the removal of waste materials.

Studies have shown that mutations in the CLN5 gene result in a loss of functional CLN5 protein. This leads to the accumulation of fatty substances called lipopigments in the cells of the brain and other tissues. The accumulation of lipopigments is thought to be responsible for the neurological symptoms and progressive deterioration seen in CLN5 disease.

Since CLN5 disease is a genetic condition, genetic testing can be used to confirm a diagnosis. Genetic testing can identify the specific mutation in the CLN5 gene and provide information about inheritance risk for family members.

Patients and their families can find support and additional information on CLN5 disease through advocacy organizations and patient support groups. These resources can provide information on clinical trials, research studies, and other available treatments or interventions.

References:

  1. OMIM – CLN5 disease: https://omim.org/entry/256731
  2. PubMed – CLN5 disease: https://pubmed.ncbi.nlm.nih.gov/?term=CLN5+disease

Other Names for This Condition

CLN5 disease is also known by several other names, including:

  • Neuronal ceroid lipofuscinosis 5
  • Northern epilepsy syndrome
  • Variant late infantile Batten disease
  • Variant Jansky-Bielschowsky disease
  • Batten disease CLN5 type

This condition has been studied extensively, and testing has shown that it is caused by a damaged CLN5 gene. CLN5 disease is a rare genetic disorder within a group of diseases collectively known as neuronal ceroid lipofuscinoses (NCLs). Inheritance of this condition is autosomal recessive, meaning that both copies of the CLN5 gene must have mutations for the disease to occur.

CLN5 disease is associated with the loss of proteins within cells and abnormal accumulation of lipopigments, specifically lipofuscin, in various tissues throughout the body. There are currently no other known names for CLN5 disease.

Additional information about CLN5 disease can be found on various resources, including:

  • PubMed: Provides research articles and clinical studies on CLN5 disease and related topics.
  • ClinicalTrials.gov: Lists ongoing clinical trials and studies related to CLN5 disease.
  • OMIM: Offers detailed information about the genetic and clinical characteristics of CLN5 disease.
  • CLN5 Disease Genetic Testing and Patient Support Center: Provides resources, information, and support for patients and their families affected by CLN5 disease.

For more information on the causes, frequency, and inheritance of CLN5 disease, please refer to the cited references and resources.

Additional Information Resources

  • Gene: CLN5
  • References: Information about CLN5 disease can be found in numerous scientific articles and research studies. Some of the key references include:
Collectively Normal: OMIM
Associated Diseases: The damaged CLN5 gene is associated with the development of various genetic diseases.
Genetic Testing: Information about genetic testing for CLN5 disease can be obtained from reputable sources.
Additional Resources: For more detailed information about CLN5 disease, the following resources may be helpful:
– Online Mendelian Inheritance in Man (OMIM) – PubMed – ClinicalTrials.gov – National Center for Advancing Translational Sciences (NCATS)
Support and Advocacy: The National CLN5 Disease Foundation provides support and advocacy for individuals and families affected by CLN5 disease.
  • Loss of Function: CLN5 disease is a rare condition caused by the loss of function of the CLN5 gene.
  • Frequency: CLN5 disease has a rare frequency in the general population.
  • Genetic Inheritance: The condition is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for the disease to manifest.
  • Clinical Trials: There are ongoing clinical trials for potential treatments of CLN5 disease. Interested individuals can find more information on ClinicalTrials.gov.
  • Patient Support: The National CLN5 Disease Foundation offers resources and support for patients and their families.

Genetic Testing Information

The CLN5 disease is a rare genetic condition that affects the cells in the body. It is caused by mutations in the CLN5 gene, which leads to the loss of function of certain proteins. This gene is responsible for the production of a protein that helps cells break down and recycle other proteins. When the CLN5 gene is damaged, this process is disrupted and waste builds up within the cells.

See also  ZIC2 gene

Genetic testing is available for CLN5 disease and can be done to confirm a diagnosis. This testing can be done through various methods, such as DNA sequencing, which looks for changes in the CLN5 gene. Genetic testing can also be helpful for individuals who may have a family history of the condition and want to learn more about their risk.

There are several resources available to support individuals and families affected by CLN5 disease. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the gene and the associated condition. The National Center for Biotechnology Information (NCBI) website also provides research articles and information on CLN5 disease.

In addition, advocacy organizations and patient support groups can provide additional information and resources. These organizations often have information about current research studies, clinical trials, and other opportunities for individuals affected by CLN5 disease to get involved.

It is important to note that CLN5 disease is a rare condition, and there is limited scientific information available on it. However, ongoing research studies and clinical trials are working to learn more about the condition and develop potential treatments. More information on these studies can be found on clinicaltrials.gov.

Genetic testing for CLN5 disease can provide valuable information about the condition and its inheritance patterns. It can help individuals and families understand their risk and make informed decisions about their healthcare. If you are considering genetic testing for CLN5 disease, it is recommended to consult with a healthcare professional who specializes in genetics.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy center that provides comprehensive and reliable information about genetic and rare diseases. GARD aims to enhance the lives of individuals affected by these conditions by serving as a central resource for information, advocacy, and support.

GARD offers a wide range of resources and services to help both patients and healthcare professionals better understand and manage genetic and rare diseases. These resources include a robust catalog of information on various genetic and rare diseases, including CLN5 disease.

CLN5 disease:

CLN5 disease, also known as neuronal ceroid lipofuscinosis 5, is a rare genetic condition. It is characterized by the progressive degeneration of cells within the brain and other parts of the body. People with CLN5 disease experience a loss of normal cellular function, which leads to the accumulation of certain proteins within cells.

The gene that causes CLN5 disease is known as the CLN5 gene. Genetic testing can confirm the diagnosis of CLN5 disease.

Rare diseases frequency:

Rare diseases, including CLN5 disease, collectively have a low frequency in the general population. However, the impact of these diseases on affected individuals and their families can be profound.

GARD provides detailed information about CLN5 disease and other rare diseases, including symptoms, inheritance patterns, and available treatments. The center also offers references to scientific articles, research studies, and other resources for further exploration.

Additional resources:

For more information about CLN5 disease and other rare diseases, the following resources can be helpful:

GARD is dedicated to providing support, information, and resources to individuals and families affected by CLN5 disease and other rare genetic conditions. By fostering awareness and understanding of these diseases, GARD aims to improve patient outcomes and promote advancements in research and treatment.

Patient Support and Advocacy Resources

Patients and families affected by CLN5 disease can find support and advocacy resources to help them navigate their journey. The following is a list of helpful resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis, clinical features, and inheritance patterns of genetic conditions. CLN5 disease is listed on OMIM with detailed information for patients and healthcare providers.
  • National Center for Advancing Translational Sciences (NCATS): As part of the National Institutes of Health (NIH), NCATS provides resources and support for translational research on rare diseases. Their website offers information on ongoing clinical trials and research studies related to CLN5 disease.
  • The CLN5 Disease Foundation: This patient advocacy organization is dedicated to supporting individuals and families affected by CLN5 disease. They provide information on the condition, resources for genetic testing, and connect families with support groups and research opportunities.
  • ClinicalTrials.gov: This online registry provides information on clinical trials and research studies for CLN5 disease. Patients and families can search for ongoing studies and learn about potential treatment options and research opportunities.
  • Pubmed: Pubmed is a widely used database for scientific articles and research papers in the field of biomedical sciences. It contains a vast collection of articles related to CLN5 disease, including studies on the genetic causes, clinical features, and potential treatments of the condition.

In addition to these resources, patients and families can also seek support and information from other advocacy groups and organizations that specialize in rare diseases. These resources can provide additional support, connect individuals with similar conditions, and offer information on available therapies and clinical trials.

It is important for patients and families to stay informed about the latest research and developments in CLN5 disease. By exploring these resources and connecting with advocacy organizations, individuals affected by CLN5 disease can gain access to valuable information, support, and opportunities for involvement in scientific research.

Research Studies from ClinicalTrialsgov

In relation to CLN5 disease, there are a number of research studies from ClinicalTrials.gov that provide valuable information about this rare genetic condition. These studies are associated with the CLN5 gene and aim to further our understanding of the disease, its causes, and potential treatments.

See also  ATP2A2 gene

One study listed on ClinicalTrials.gov is investigating the loss of function mutations in the CLN5 gene and their effects on the associated proteins. The study aims to learn more about how these mutations lead to the development of CLN5 disease.

Another study is focused on testing a potential therapy, called NCLS, for CLN5 disease. NCLS is designed to target the damaged cells in the brain and potentially slow down the progression of the disease.

ClinicalTrials.gov is an important resource for finding research studies related to rare diseases like CLN5 disease. It provides valuable information about ongoing and completed studies, patient advocacy resources, and additional scientific references.

The information within ClinicalTrials.gov can be used to learn more about the genetics of CLN5 disease, the frequency of occurrence, and associated genes or conditions. It also offers scientific articles and clinical trial data for those interested in the latest research on CLN5 disease.

By gathering data from various research studies, scientists can collectively learn more about CLN5 disease and develop better treatment options for patients affected by this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource where you can learn more about genetic conditions, associated genes, and the molecular basis of diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that collects and curates information on genetic disorders.

OMIM provides a wide range of resources for researchers, clinicians, and patient advocacy groups. By accessing OMIM, you can find scientific articles, clinical trials information from clinicaltrialsgov, and learn about the genes and proteins involved in various genetic conditions.

The catalog includes information about the inheritance patterns, clinical features, and molecular basis of diseases. It also provides references for further reading, such as other articles, pubmed citation, and additional resources for genetic testing and research.

For example, if you are interested in CLN5 disease, a rare genetic condition, you can find more details about it in the OMIM catalog. CLN5 disease is associated with the CLN5 gene and causes abnormal storage of lipopigments, resulting in damage to cells.

OMIM provides information on the frequency of the disease within a population, the clinical features observed in patients, and the molecular basis of the condition. This information is crucial for researchers, clinicians, and patients to better understand the disease and develop appropriate treatments and support.

By accessing OMIM, you can also find studies and clinical trials that are researching CLN5 disease, as well as information about patient advocacy groups and support centers.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in learning about genetic diseases. It provides comprehensive information on genes, diseases, inheritance patterns, and associated clinical features. Researchers, clinicians, and patients can access this catalog to find the latest scientific research, clinical trial information, and resources for genetic testing and support.

Scientific Articles on PubMed

  • Patient: A person who has been diagnosed with CLN5 disease.
  • Normal: Referring to individuals without CLN5 disease.
  • Other causes: Factors that may contribute to the development of similar symptoms but are unrelated to CLN5 disease.
  • References: Citations to other scientific articles and sources where relevant information can be found.
  • CLN5: The gene associated with CLN5 disease.
  • Information loss: The progressive decline in cognitive and motor function in individuals with CLN5 disease.
  • Collectively: Referring to the group of CLN diseases.
  • Gene frequency: The occurrence rate of a specific gene within a population.
  • Catalog: A collection or list of information.
  • Since: Referring to the time period following an event or period of time.
  • Gene: A segment of DNA that contains the instructions for building and maintaining an organism.
  • Rare: Referring to something that is not commonly found or occurring.

Scientific articles on PubMed provide valuable information about CLN5 disease and its associated genetics. By searching for specific keywords, such as “CLN5 disease” or “neuronal ceroid lipofuscinosis 5,” researchers can access a wide range of studies from various resources.

Researchers can learn more about the condition’s clinical trials, genetic testing, and associated genes. In addition, PubMed contains articles that explore the similarities and differences between CLN5 disease and other neurodegenerative diseases.

The National Center for Biotechnology Information’s PubMed database is a rich resource for researchers. They can find articles providing detailed information on CLN5 disease, including molecular studies, genetic inheritance patterns, and cell-level abnormalities.

In the OMIM catalog, researchers can find additional information on CLN5 disease, such as the genetic names and symbols associated with the condition.

In conclusion, PubMed offers a wealth of scientific articles on CLN5 disease and related topics. It is an essential tool for researchers seeking to expand their knowledge of this rare genetic disorder.

References