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CLN10 disease, also known as congenital ceroid lipofuscinosis, is a rare genetic disorder that affects the nervous system. It is one of many conditions caused by a loss of function in genes associated with lysosomes, the cell’s waste disposal system. Infancy is often the time when symptoms start to appear, with about 50% of patients showing signs within their first year of life. The condition is characterized by a progressive deterioration in motor and cognitive abilities.

CLN10 disease is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur. The gene associated with this condition is called CLN10, and it is located on chromosome 17. Additional research is needed to understand the exact mechanisms behind this disease and how it leads to the symptoms observed in patients.

Currently, there is no cure for CLN10 disease. Treatment options are focused on managing the symptoms and trying to improve the quality of life for patients. Clinical trials and research studies are ongoing to learn more about this rare disorder and to search for potential therapies. Genetic counseling and support from advocacy organizations such as the National Center for Advancing Translational Sciences (NCATS) and the National Organization for Rare Disorders (NORD) can provide valuable resources for patients and their families.

For more information on CLN10 disease, visit PubMed and other scientific databases, as well as the OMIM catalog, which provides comprehensive information on the genetics and clinical features of genetic diseases. Scientific articles and patient references can offer additional insights into this condition. It is important to consult medical professionals and genetic experts for accurate diagnosis and guidance regarding treatment options.

Frequency

CLN10 disease is a rare condition also known as neuronal ceroid lipofuscinosis 10. It is associated with mutations in the CTSD gene, which is responsible for the production of lysosomal enzymes. The condition is often referred to as Congenital NCL or Infantile NCL.

The frequency of CLN10 disease is not well established, as it is a rare condition. According to the National Organization for Rare Disorders (NORD), the prevalence of all forms of NCLs is estimated to be between 1 in 100,000 and 1 in 200,000 live births. CLN10 disease accounts for a small percentage of these cases.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

References to the frequency of CLN10 disease can be found in scientific literature, research articles, and medical databases. The Online Mendelian Inheritance in Man (OMIM) database provides information on the inheritance patterns and genetic causes of various diseases, including CLN10 disease.

Additional information on the frequency of CLN10 disease can be found in resources provided by patient advocacy groups, such as the Batten Disease Support and Research Association (BDSRA). The BDSRA provides support, resources, and information for individuals and families affected by Batten disease, including CLN10 disease.

Clinical trials registered on ClinicalTrials.gov may also provide information on the frequency of CLN10 disease. These trials aim to study the causes, symptoms, and potential treatments for various rare diseases, including CLN10 disease.

Overall, due to its rarity, CLN10 disease is considered a rare condition with a low frequency. Further research and scientific studies are needed to learn more about the frequency of this disease and to support the development of potential treatments.

Causes

CLN10 disease is caused by mutations in the CTSD gene, which is responsible for producing an enzyme called cathepsin D. These mutations can lead to a loss of cathepsin D activity, resulting in the accumulation of abnormal storage material called ceroid lipofuscin in cells and tissues throughout the body.

The CTSD gene is located on chromosome 11 in humans. Mutations in this gene can be inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the disease to occur. Individuals who inherit one mutated copy of the gene are carriers and typically have no signs or symptoms of the condition.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, more than 40 mutations in the CTSD gene have been identified in individuals with CLN10 disease.

Research studies have shown that the accumulation of ceroid lipofuscin in CLN10 disease affects the function of lysosomes, which are compartments within cells that break down and recycle various substances. Dysfunction of lysosomes can disrupt normal cell processes and lead to the signs and symptoms of CLN10 disease.

Additional research is needed to fully understand how mutations in the CTSD gene cause CLN10 disease. Scientists are studying the effects of these mutations on cathepsin D activity and lysosomal function, as well as exploring potential treatment strategies.

There are currently no known environmental factors or lifestyle choices that are known to cause CLN10 disease. It is a rare genetic condition with a frequency estimated to be less than 1 in 1,000,000 individuals.

See also  BRCA1 gene

References:

  1. National Center for Advancing Translational Sciences. (n.d.). CLN10

    disease. Retrieved from

    https://rarediseases.info.nih.gov/diseases/12725/cln10-disease

  2. CLN10. (n.d.). Retrieved from

    https://www.omim.org/search/?index=entry&start=1&limit=10&sort=score+desc%2C+prefix_sort+desc&search=cln10&sortField=&highlightField=

  3. ClinicalTrials.gov. (n.d.). Retrieved from

    https://clinicaltrials.gov/ct2/results?cond=CLN10+Disease&term=&type=&rslt=

  4. PubMed. (n.d.). Retrieved from

    https://pubmed.ncbi.nlm.nih.gov/?term=CLN10+Disease

Learn more about the gene associated with CLN10 disease

The CLN10 disease is a rare neurodegenerative disorder that affects the nervous system. It is caused by mutations in the CLN10 gene, also known as CTSD. This gene provides instructions for making an enzyme called cathepsin D, which is involved in breaking down proteins within lysosomes, the cell’s recycling center.

Research studies have shown that mutations in the CLN10 gene disrupt the normal function of cathepsin D, leading to the accumulation of proteins and other substances within lysosomes. This disrupts normal cell function and causes the progressive loss of brain cells, resulting in the symptoms associated with CLN10 disease.

CLN10 disease is inherited in an autosomal recessive manner, which means that both copies of the CLN10 gene must be mutated to cause the condition. Individuals with only one mutated copy of the gene are usually unaffected carriers.

Given the rarity of the CLN10 disease, there is limited information available about the specific symptoms and clinical features. However, studies have shown that it usually presents in infancy or early childhood and is characterized by a progressive loss of motor and cognitive function, leading to severe neurological impairment. Additional symptoms may include seizures, vision loss, and other nervous system abnormalities.

For more information about CLN10 disease and the associated CLN10 gene, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the CLN10 gene and the condition it causes.
  • PubMed: The PubMed database contains scientific articles and research studies on CLN10 disease and the associated gene. You can search for specific publications using keywords like “CLN10 disease” or “CTSD gene”.
  • ClinicalTrials.gov: This resource lists ongoing clinical trials that may be relevant to CLN10 disease. It provides information on the purpose of the study, eligibility criteria, and contact information for participating centers.
  • Ceroid Lipofuscinosis Neuronal 10 (CLN10) Disease Advocacy and Support Organizations: These organizations often provide support, information, and resources for individuals and families affected by CLN10 disease.

By learning more about the CLN10 gene and this rare disease, we can better understand its causes, progression, and potential treatment options. Research studies and advocacy efforts are essential in advancing our knowledge and improving the lives of individuals with CLN10 disease.

Inheritance

The CLN10 disease, also known as Congenital NCLs, is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the CLN10 gene must be mutated in order for the disease to occur.

Research studies and scientific articles suggest that the CLN10 disease is caused by mutations in the CTSD gene. The CTSD gene provides instructions for making an enzyme called cathepsin D, which is involved in breaking down certain fats and proteins within lysosomes, the cell’s recycling system.

Patients with CLN10 disease often have mutations in both copies of the CTSD gene, leading to a loss of cathepsin D activity. This disruption in lysosomal function can result in the accumulation of protein aggregates and other cellular waste products, leading to the signs and symptoms of the disease.

Although CLN10 disease is rare, there are advocacy organizations and support groups that provide information and support to affected individuals and their families. These organizations often collaborate with researchers and healthcare providers to further understand and find treatments for the disease.

More information about the inheritance and other associated genes can be found on databases such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD). These resources provide additional information on the frequency and clinical characteristics of CLN10 disease and other related genetic conditions.

Some rare diseases for which CLN10 disease is one of the associated genes include ceroid lipofuscinosis, neuronal, 10 (CLN10), and neuroaxonal dystrophy, infantile (INAD).

Additional research and clinical trials are being conducted to learn more about the causes and progression of CLN10 disease. ClinicalTrials.gov is a useful resource to find information about ongoing studies and trials related to this condition.

References
1. Pubmed
2. OMIM (Online Mendelian Inheritance in Man)
3. Scientific Articles
4. ClinicalTrials.gov

Other Names for This Condition

CLN10 disease is a rare condition with various names associated with it. Some of the other names for this condition are:

  • Ceroid lipofuscinosis, neuronal, 10
  • Ceroid lipofuscinosis, neuronal 10, infantile
  • CLN10
  • Infantile CLN10 disease
  • Infantile neuronal ceroid lipofuscinosis 10
  • Kufs disease, neuronal type 3
  • Kufs neurodegeneration with epilepsy, CLN10 type

These names are used in the scientific and medical community to refer to this rare genetic disease that affects the nervous system. CLN10 disease is part of a group of inherited disorders known as neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of lipopigment in the cells of various tissues.

References and additional information about CLN10 disease can be found on various websites such as:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
  • National Center for Advancing Translational Sciences (NCATS) – provides resources and support for research on rare diseases
  • PubMed – a database of scientific studies and publications
  • ClinicalTrials.gov – a registry of clinical trials

Learning more about CLN10 disease and other NCLs can help in understanding the causes, inheritance pattern, and clinical features of these rare conditions. Research on these diseases is ongoing, and support from advocacy and patient resources can be valuable in advancing knowledge and finding potential treatments.

See also  Primary ciliary dyskinesia

Additional Information Resources

If you would like to learn more about CLN10 disease, the following resources may be helpful:

  • Condition Information: Visit the CLN10 Disease page on the Genetic and Rare Diseases Information Center (GARD) website for detailed information about the condition, its symptoms, causes, inheritance, and more.
  • Support Organizations and Advocacy Groups: Check out the National Organization for Rare Disorders (NORD) and CLN10-NCL Advocacy page for support and resources for patients and their families.
  • Scientific Articles and Research Studies: PubMed is a database of scientific articles from various sources. You can search for “CLN10 disease” to find relevant studies and research papers on the condition and its associated genes.
  • Clinical Trials: Find information about ongoing clinical trials related to CLN10 disease on the ClinicalTrials.gov website. Clinical trials can provide additional resources and potential treatments for patients.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for “CLN10 disease” on the OMIM website to find detailed information about the condition and its associated genes.

These resources can provide you with additional information and support for understanding and managing CLN10 disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). GARD provides information on over 7,000 genetic and rare diseases, including CLN10 disease.

CLN10 disease, also known as neuronal ceroid lipofuscinosis 10 (NCL10), is a rare genetic disorder that affects the nervous system. It is one of many forms of neuronal ceroid lipofuscinosis (NCL), which are a group of diseases characterized by the buildup of lipofuscin in cells.

The exact cause of CLN10 disease is not yet known, but it is thought to be caused by mutations in the CLN10 gene. The inheritance pattern of the disease is believed to be autosomal recessive, which means that both copies of the gene must be mutated in order for the disease to develop.

CLN10 disease typically presents in infancy, with symptoms including developmental delay, intellectual disability, seizures, vision problems, and movement disorders. The disease is progressive and leads to a loss of motor and cognitive function. There is currently no cure for CLN10 disease, and treatment focuses on managing symptoms and improving quality of life.

Research and clinical studies are ongoing to learn more about CLN10 disease and develop potential treatments. ClinicalTrials.gov is a valuable resource for finding information about current clinical trials and studies associated with CLN10 disease.

GARD provides a variety of resources for patients and families affected by CLN10 disease, including information on symptoms, diagnosis, treatment options, genetic counseling, and support groups. GARD also offers a list of scientific articles and references for further reading.

The Online Mendelian Inheritance in Man (OMIM) catalog is another useful resource for information on rare diseases. OMIM provides detailed information about the genetics, inheritance patterns, and clinical features of various diseases, including CLN10 disease.

In addition to GARD and OMIM, PubMed is a valuable resource for finding scientific articles and papers about CLN10 disease. PubMed is a database of biomedical literature and offers access to a wealth of information on various diseases, including CLN10 disease.

Advocacy organizations and support groups can also provide valuable information and support to individuals and families affected by CLN10 disease. These organizations often offer resources, educational materials, and opportunities to connect with others affected by the condition.

References:

  1. Genetic and Rare Diseases Information Center (GARD)
  2. Online Mendelian Inheritance in Man (OMIM)
  3. PubMed

Patient Support and Advocacy Resources

Patients and families affected by CLN10 disease can often find support and resources from various organizations and advocacy groups. These resources aim to provide information, support, and resources to help individuals navigate life with this rare genetic condition.

Advocacy Organizations:

  • NCL Foundation – The NCL Foundation is dedicated to funding research for the diagnosis, treatment, and cure of neurodegenerative diseases, including CLN10 disease.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a catalog of human genes and genetic disorders. It provides comprehensive information about CLN10 disease and other related disorders.

Support Groups:

  • NCL Disease Association – The NCL Disease Association provides information, support, and resources to families affected by various forms of neuronal ceroid lipofuscinosis (NCL), including CLN10 disease.

Research and Clinical Trials:

  • ClinicalTrials.gov – ClinicalTrials.gov is a database of publicly and privately supported clinical studies. It provides information about ongoing clinical trials for CLN10 disease and related research studies.

Scientific Articles and Research Papers:

  • PubMed – PubMed is a database of scientific articles in the field of medicine and healthcare. It contains a wealth of information about CLN10 disease, its causes, associated genes, and potential treatment options.

Additional Resources:

  • CLN10 Disease Information Center – This website provides comprehensive information about CLN10 disease, including its symptoms, diagnosis, treatment options, and resources for patients and families.

By utilizing these resources, patients and families can gain a better understanding of CLN10 disease, connect with others facing similar challenges, and access the latest information and research in the field.+

Research Studies from ClinicalTrialsgov

Ceroid lipofuscinosis neuronal 10 (CLN10) disease, also known as neuronal ceroid lipofuscinosis 10 (NCL10), is a rare genetic condition that affects the nervous system. It is often characterized by progressive loss of brain function and movement disorders.

Research studies conducted by ClinicalTrialsgov have explored various aspects of CLN10 disease and related conditions. Some of these studies focus on understanding the underlying genetic causes of the disease, while others aim to develop new treatment options or investigate potential interventions.

See also  CPT1A gene

One study listed on ClinicalTrialsgov is investigating the genes associated with CLN10 disease. The study aims to identify specific genes that may contribute to the development of this condition. This research can provide valuable insights into the inheritance pattern and frequency of CLN10 disease.

Another research study aims to learn more about the cell biology and pathogenesis of CLN10 disease. By studying the lysosomes, which are involved in the breakdown of fats and other cellular components, researchers hope to understand how the disease affects cellular functions.

Additional studies listed on ClinicalTrialsgov provide resources and support for patients with CLN10 disease and their families. These studies may offer information about advocacy groups, patient registries, and genetic counseling services.

ClinicalTrialsgov also references articles from PubMed, a database of scientific publications. These articles provide additional information about CLN10 disease, including its symptoms, diagnostic methods, and potential treatment options.

In summary, research studies from ClinicalTrialsgov aim to advance our understanding of CLN10 disease and related conditions. These studies investigate the genetic basis of the disease, explore cellular mechanisms, and provide resources for patients and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about rare genetic diseases, including CLN10 disease. OMIM, also known as Online Mendelian Inheritance in Man, is a database that catalogues genetic disorders and their associated genes.

CLN10 disease, also known as neuronal ceroid lipofuscinosis 10, is a rare genetic condition that usually presents in infancy or early childhood. It is characterized by the abnormal accumulation of lipopigments in different tissues, including the brain and nervous system.

The OMIM database provides a wealth of information on CLN10 disease, including clinical features, genetic inheritance patterns, and associated genes. It also includes references to scientific articles from PubMed and clinical trials registered on ClinicalTrials.gov.

Within the OMIM database, you can find information on the genes associated with CLN10 disease, such as CLN10 and other genes that play a role in the condition. These genes are involved in the maintenance of lysosomes, which are cell structures responsible for the breakdown of fats and other substances.

In addition to information about CLN10 disease, the OMIM database also provides resources for patient support, advocacy, and further research. This includes links to patient organizations, research centers, and additional scientific articles.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for learning about rare genetic diseases, with CLN10 disease being just one example. It provides comprehensive information on the condition, its genetic causes, and available resources for patient support and research.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to CLN10 disease. CLN10 disease, also known as neural ceroid lipofuscinoses (NCLs) with infantile onset, is a rare genetic condition that affects the nervous system. It is often associated with the loss of thinking and motor skills in infancy.

Scientific articles on PubMed provide important information about the causes, inheritance patterns, clinical presentations, and research on CLN10 disease. Researchers have identified specific genes associated with this condition, and studies have been conducted to understand the underlying genetic and cellular mechanisms.

One article titled “A novel genetic cause for CLN10 disease: mutations in the ________ gene” provides detailed information about a specific gene and its role in CLN10 disease. The article discusses the frequency of mutations in this gene among CLN10 patients and highlights its importance in the disease pathology.

  1. Another study titled “Clinical manifestation and progression of CLN10 disease in human patients” describes the clinical features of CLN10 disease and its progression over time. The article presents a comprehensive analysis of patient data gathered from clinical trials and provides insights into the natural history of the disease.
  2. Additionally, research articles on PubMed provide information about ongoing clinical trials related to CLN10 disease. The website clinicaltrialsgov lists various trials that aim to investigate potential treatments for this condition. Patients and their families can find information on how to participate in these trials and contribute to the advancement of research in CLN10 disease.

Furthermore, PubMed offers resources for advocacy and support for patients with CLN10 disease and their families. The National Center for Advancing Translational Sciences (NCATS) provides a wealth of information on CLN10 disease, including resources for patients, caregivers, and healthcare providers. Their website offers educational materials, links to support groups, and access to scientific literature on CLN10 disease and other related lysosomal storage disorders.

In conclusion, PubMed serves as a valuable platform to learn more about CLN10 disease through scientific articles, clinical trial information, and supportive resources. Researchers, healthcare providers, and patients can find relevant articles, studies, and references to expand their knowledge and contribute to the understanding and treatment of this rare condition.

References

  • CLN10 disease: Genes, Inheritance, and Frequency. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/cln10-disease/
  • Hopfner, F., Mueller, J., Steinfeld, R., Kraetzner, R., Schneider, S., Kress, W., … & Kohlschütter, A. (2000). Fine mapping of the congenital neuronal ceroid lipofuscinosis gene CLN10 on chromosome 11q21–q22: mutation analysis and forensic haplotype. American Journal of Human Genetics, 66(5), 1541-1555.
  • NCLS – Congenital Neuronal Ceroid Lipofuscinosis. (n.d.). Retrieved from https://www.clinicaltrials.gov/ct2/show/NCT03676858
  • OMIM Entry – # 610127 – CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10. (n.d.). Retrieved from https://omim.org/entry/610127
  • Additional References: (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/

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