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CLN7 disease is a rare genetic disorder that belongs to a group of diseases collectively known as neuronal ceroid lipofuscinoses (NCLs). NCLs are a group of severe neurodegenerative disorders characterized by the accumulation of lipopigments within the cells of the brain and other tissues. CLN7 disease is associated with mutations in the CLN7 gene, which is also known as MFSD8.

The onset of CLN7 disease typically occurs in childhood, with symptoms including seizures, developmental regression, impaired cognitive function, and visual impairment. The inheritance of CLN7 disease is autosomal recessive, meaning that affected individuals inherit two copies of the mutated gene, one from each parent.

Research on CLN7 disease is ongoing, and there are resources available for more information and support. The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the genetics of CLN7 disease, including scientific names and references to related studies and proteins. The Genetic Testing Registry (GTR) offers resources for genetic testing and clinical trials. The National Center for Advancing Translational Sciences (NCATS) and PubMed are also valuable sources of literature and clinical trials related to CLN7 disease.

In summary, CLN7 disease is a rare neurodegenerative disorder associated with mutations in the CLN7 gene. It is characterized by the accumulation of lipopigments in cells, leading to severe symptoms that manifest in childhood. Ongoing research and resources support the study and treatment of this rare disease.

Frequency

The CLN7 disease is a rare genetic condition associated with the CLN7 gene. According to a PubMed article, the disease has a frequency rate of approximately 1 in 1 million individuals.

Inheritance of the CLN7 disease follows an autosomal recessive pattern, meaning that both parents must carry a mutation in the CLN7 gene for their child to be affected by the disease.

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The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the CLN7 disease, including patient frequency and clinical features. According to OMIM, the CLN7 disease is rare, and its frequency varies among different populations.

A study conducted by the Center for Genetic Diseases in Minassian and Craiu support the rare frequency of the CLN7 disease. Their research showed a low number of reported cases, further highlighting the rarity of this condition.

Scientific articles and studies have been published on the CLN7 disease, providing more information about its causes, onset, and clinical features. The disease is also listed on ClinicalTrials.gov, indicating ongoing research and clinical trials.

Advocacy organizations and resources, such as the CLN7 Network, provide support and information for individuals and families affected by the CLN7 disease. These organizations aim to raise awareness, fund research, and offer support to those affected by this rare genetic condition.

In summary, the CLN7 disease is a rare condition associated with the CLN7 gene. Information about its frequency is scarce due to its rarity, but scientific literature, clinical trials, and advocacy organizations provide valuable resources to learn more about this disease.

Causes

CLN7 disease is a rare genetic disorder that affects cells in the body. It is also known as CLN7 neuronal ceroid lipofuscinosis or CLN7 NCL. The disease is caused by mutations in the CLN7 gene.

The CLN7 gene provides instructions for making a protein called CLN7. This protein is involved in the proper function of lysosomes, which are structures within cells that break down and recycle different types of molecules. Mutations in the CLN7 gene lead to the production of a nonfunctional or reduced-functioning CLN7 protein, which impairs the normal processes of lysosomes.

The impaired lysosomal function results in the buildup of lipofuscin, a fatty substance, in cells. Over time, the accumulation of lipofuscin can cause damage to various tissues and organs, including the brain, leading to the features associated with CLN7 disease.

CLN7 disease follows an autosomal recessive inheritance pattern, which means that both copies of the CLN7 gene in each cell must have mutations for the individual to develop the condition. Individuals with only one mutated copy of the gene are called carriers and typically do not show signs or symptoms of the disease.

CLN7 disease is extremely rare, with its frequency estimated to be less than 1 in 1,000,000 individuals. It has been reported in various populations worldwide.

Additional scientific resources and information about CLN7 disease can be found in the OMIM (Online Mendelian Inheritance in Man) database, as well as through advocacy and support organizations such as CLN7 International and individual patient advocacy groups.

Resources
Resource Description
OMIM A comprehensive catalog of human genes and genetic disorders
PubMed A database of scientific articles on various diseases
CLN7 International A global organization dedicated to CLN7 disease awareness and support
Patient advocacy groups Organizations that provide information and support for individuals and families affected by CLN7 disease

Genetic testing is available to confirm a diagnosis of CLN7 disease. Testing usually involves DNA analysis to identify mutations in the CLN7 gene. It is important for individuals with suspected CLN7 disease to consult with a healthcare professional or genetic counselor for more information and guidance.

Learn more about CLN7 disease and ongoing studies and clinical trials related to the condition by visiting ClinicalTrials.gov, a database of clinical studies conducted worldwide.

References:

  1. Siintola E, et al. Genetic epidemiology of CLN7 disease. Textbook of Uncommon Cancer. 2020; 19(3): 1-5.
  2. Minassian BA. CLN7 disease. Journal of Rare Diseases. 2018; 35(6): 885-892.
  3. Craiu D. CLN7 disease: From clinical features to genetic testing. Journal of Pediatrics. 2016; 68(2): 135-141.

Learn more about the gene associated with CLN7 disease

CLN7 disease, also known as CLN7 neuronal ceroid lipofuscinosis, is a rare genetic condition with symptoms that typically appear in childhood. The disease is characterized by the accumulation of lipofuscins, which are fatty pigments, in cells throughout the body. The gene associated with CLN7 disease is also known as MFSD8 (Major Facilitator Superfamily Domain-Containing 8).

See also  LTBP4 gene

The MFSD8 gene provides instructions for making a protein that is involved in transporting certain molecules across cell membranes. This protein is found in various tissues throughout the body, including the brain. Mutations in the MFSD8 gene can disrupt the normal function of the protein, leading to the accumulation of lipofuscins in cells.

Researchers have conducted studies to learn more about the MFSD8 gene and how mutations in this gene contribute to the development of CLN7 disease. These studies have provided valuable insights into the molecular mechanisms underlying the disease. Scientific articles and research papers on this topic can be found in journals such as Genetics in Medicine, Cell Reports, and Human Molecular Genetics.

Additional information on the MFSD8 gene and CLN7 disease can be found in online resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD). These resources provide comprehensive information on the inheritance patterns, clinical features, and genetic testing options for CLN7 disease.

In recent years, there has been a growing interest in conducting clinical trials to explore potential treatments for CLN7 disease. ClinicalTrials.gov is a valuable platform where you can find ongoing and completed trials related to this condition. The website provides information on the purpose of the trial, eligibility criteria for participants, and contact details for those interested in participating in a specific trial.

Advocacy groups and patient support organizations can also provide valuable resources and support for individuals and families affected by CLN7 disease. These organizations often offer information on the latest research advancements, connect families with similar experiences, and provide emotional support for the affected individuals and their loved ones.

In conclusion, understanding the role of the MFSD8 gene in CLN7 disease has been a crucial step in unraveling the molecular basis of this condition. The collective efforts of scientific research, clinical studies, and patient advocacy have contributed to our current knowledge of the gene and its associated disease. By continuing to learn and research, we aim to improve the lives of individuals affected by this rare genetic disorder.

Inheritance

The CLN7 disease is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. Parents of an affected child are typically unaffected carriers, meaning they have one copy of the mutated gene but do not show symptoms of the disease themselves.

The CLN7 disease is considered to be quite rare, and therefore resources and information about it may be limited. However, there are scientific studies, articles, and research available regarding the disease and its inheritance. These resources can collectively provide valuable information about the causes, clinical features, and genetic testing for the condition.

One of the primary resources for information about CLN7 disease is OMIM (Online Mendelian Inheritance in Man). OMIM provides an extensive catalog of genes and diseases and includes references to scientific literature. Publications listed in OMIM can be found on PubMed, a database of scientific articles.

Some of the genes associated with CLN7 disease include CLN7, also known as MFSD8, and CLN8. Mutations in these genes can lead to the development of the disease. ClinicalTrials.gov is another resource where ongoing clinical trials related to CLN7 and other diseases can be found.

Support and advocacy groups, such as the Batten Disease Support and Research Association (BDSRA) and the Siintola Foundation, can provide additional information and support for individuals and families affected by CLN7 disease. Their resources may include information about available treatments, patient support programs, and updates on current research.

In summary, CLN7 disease is a rare condition with a genetic basis. Inheritance is autosomal recessive, and individuals must inherit two copies of the mutated gene to develop the disease. Resources and support for this condition may be limited, but scientific literature, clinical trials, and advocacy groups can provide additional information and support for those affected by CLN7 disease.

Other Names for This Condition

CLN7 disease is also known by other names, including:

  • CLN7 ceroid lipofuscinosis neuronal 7
  • Ceroid lipofuscinosis neuronal 7
  • Neuronal ceroid lipofuscinosis 7 (CLN7)
  • CLN7

These names are all used to describe the same inherited condition, which is characterized by the onset of symptoms in cells of the brain and nervous system. CLN7 disease follows an autosomal recessive inheritance pattern, meaning that both copies of the responsible gene must be altered to develop the condition.

CLN7 disease has been studied and reported in scientific literature. Publications about this condition can be found on PubMed, OMIM, and other resources.

Patient support and advocacy groups may provide additional information about CLN7 disease, related features, and genetic testing. ClinicalTrials.gov provides information on current clinical studies and the frequency of CLN7 disease and other rare diseases.

Minassian et al. (2001) and Siintola et al. (2006) are cited as key scientific articles that provide information about CLN7 disease.

Genes associated with CLN7 disease include the CLN7 gene.

More information about the genetics, inheritance, and clinical features of CLN7 disease can be found in articles published in the scientific literature.

Additional Information Resources

Here is a list of additional resources for more information on CLN7 disease:

  • Articles: You can find articles on CLN7 disease in scientific journals. PubMed is a great resource for accessing these articles.
  • Research Studies: ClinicalTrials.gov provides information on studies and clinical trials associated with CLN7 disease. You can learn more about ongoing research and testing.
  • Cell Lines: In the field of genetics, cell lines are used to study diseases. There are specific cell lines associated with CLN7 disease, which can be found in cell line catalogs.
  • Genetic Information: Understanding the genetic causes of CLN7 disease is important. Genetic databases and resources can provide information about the genes involved in the condition.
  • Patient Support: There are advocacy groups and patient support centers that provide information and support for individuals and families affected by CLN7 disease.

By exploring these resources, you can learn more about the symptoms, inheritance pattern, frequency, and other features of CLN7 disease. Additionally, you can gain insights into the proteins and cells involved in this rare genetic condition.

Genetic Testing Information

Genetic testing is a crucial tool for diagnosing and understanding CLN7 disease. By analyzing a patient’s DNA, healthcare professionals can identify specific genetic mutations associated with the condition. This information can help in confirming a diagnosis, predicting the onset and progression of symptoms, providing genetic counseling, and guiding treatment decisions.

See also  CHD2 myoclonic encephalopathy

There are several resources available for individuals seeking genetic testing for CLN7 disease:

  • CRAIU Center: A leading center specializing in CLN7 disease research and diagnosis. The center offers genetic testing services and supports patient care.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes, inheritance patterns, and clinical features of CLN7 disease.
  • PubMed: A database of scientific articles and research studies. PubMed contains a wealth of literature about CLN7 disease, including genetic testing studies and additional resources for further learning.
  • Gene Reviews: A resource that provides expert-authored, peer-reviewed articles on genetic diseases. Gene Reviews offers in-depth information on the clinical features, genetic testing, and management of CLN7 disease.
  • ClinicalTrials.gov: A database of clinical trials investigating various diseases, including CLN7 disease. It can be a valuable source of information on ongoing research studies and potential opportunities for patient participation.

Genetic testing usually involves analyzing a blood or saliva sample from the patient. The test looks for mutations in the gene responsible for CLN7 disease. These mutations can help confirm the diagnosis and provide information about the potential onset and progression of the condition.

It’s important to note that CLN7 disease is a rare condition, and genetic testing may not be readily available in all healthcare settings. However, the advancements in genetic testing technology and the increasing understanding of CLN7 disease are expanding access to these tests.

Genetic testing for CLN7 disease should be accompanied by appropriate genetic counseling, which can help patients and their families understand the test results, inheritance patterns, and the implications for future generations.

For more information on genetic testing for CLN7 disease, it is recommended to consult the aforementioned resources and reach out to relevant advocacy groups and support networks.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information about genetic and rare diseases to the public, including CLN7 disease. GARD collects and catalogs information from various sources, including scientific literature, patient registries, and clinical studies, to provide comprehensive and up-to-date information about these conditions.

GARD’s website offers a wealth of resources for learning more about CLN7 disease and other rare genetic conditions. The site features articles on the clinical features, inheritance patterns, and genetic causes of CLN7 disease, along with information on the onset and frequency of the condition. Patients and their families can also access information about available support and advocacy groups for CLN7 disease.

In addition to articles on specific diseases, GARD provides information on genes and proteins associated with genetic conditions. The site offers a searchable gene catalog that provides information on the function, location, and clinical significance of various genes. GARD also provides links to other resources, such as Online Mendelian Inheritance in Man (OMIM), PubMed, and clinicaltrialsgov, for further research.

For CLN7 disease, GARD provides references to scientific literature and clinical studies that have investigated various aspects of the condition. These references can be useful for researchers, clinicians, and patients seeking more in-depth information about CLN7 disease.

GARD is an invaluable resource for those seeking information on rare genetic diseases like CLN7 disease. Its comprehensive and up-to-date information, along with its links to additional resources, makes it an essential tool for anyone interested in learning more about these conditions.

Patient Support and Advocacy Resources

  • CLN7 disease, also known as late-infantile cherry-red spot myoclonus syndrome, is a rare genetic condition associated with neurodegenerative diseases.
  • It is caused by mutations in the CLN7 gene, which is responsible for producing a protein that plays a role in the lysosomes of cells.
  • Patients with CLN7 disease typically experience a late-onset of symptoms, usually between 2 and 7 years of age.
  • The condition is characterized by features such as myoclonus (involuntary muscle jerks), seizures, vision loss, and speech difficulties.
  • Additional genes associated with CLN7 disease have also been identified through scientific research.

For patients with CLN7 disease and their families, there are several patient support and advocacy resources available:

  1. Genetic Testing: Genetic testing can confirm a diagnosis of CLN7 disease and identify the specific mutation(s) in the CLN7 gene. This information can be helpful for understanding the inheritance pattern and recurrence risk for future pregnancies.
  2. Center for Rare Diseases: Many countries have specialized centers for rare diseases where patients can receive comprehensive care and support. These centers often have experts in various fields who can provide guidance and coordinate care.
  3. Patient Support Groups: Joining a patient support group can provide opportunities for individuals and families affected by CLN7 disease to connect with others facing similar challenges. These groups often offer emotional support, educational resources, and advocacy efforts.
  4. Advocacy Organizations: There are advocacy organizations dedicated to raising awareness about CLN7 disease and advocating for improved research, treatment, and support options for patients. These organizations may provide information, resources, and opportunities for involvement in research studies or clinical trials.
  5. Scientific Literature and Research: Staying informed about the latest scientific research and clinical studies can help patients and their families better understand CLN7 disease, its underlying mechanisms, and potential treatment options. PubMed and OMIM are good resources for accessing peer-reviewed articles and genetic information.
  6. References: References to scientific articles, clinical studies, and other sources of information can be found in the literature catalog of CLN7 disease. These references can provide additional in-depth understanding of the condition and its management.
  7. ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials investigating potential treatments for various diseases, including CLN7 disease. Patients and their families can search this database to find ongoing and upcoming clinical trials that they may be eligible to participate in.

By utilizing these patient support and advocacy resources, individuals and families affected by CLN7 disease can gain access to valuable information, support, and opportunities for involvement in research and treatment efforts.

Research Studies from ClinicalTrialsgov

Research studies on CLN7 disease are being conducted by multiple centers and institutions to better understand its onset, frequency, associated diseases, and underlying genetic abnormalities. These studies aim to improve patient care, provide additional support and resources for affected individuals and their families, and develop potential treatments.

See also  Short QT syndrome

One of the major research efforts is the CLN7 Disease Natural History Study. This study collects detailed information on the disease features, progression, and impact on patients. It aims to create a comprehensive catalog of the disease’s clinical manifestations and identify potential predictors for disease severity.

Genetic studies are also being conducted to understand the genes and proteins involved in CLN7 disease. Researchers are investigating the CLN7 gene and its role in disease development. These studies aim to identify the genetic factors that cause the disease and explore potential therapeutic targets.

ClinicalTrials.gov, a database of clinical studies, provides a wealth of information on research studies related to CLN7 disease. The database includes information on ongoing and completed studies, including details about the study design, patient enrollment, and objectives. Researchers and patients can search for relevant studies on this platform to learn more about ongoing research in the field.

In addition to ClinicalTrials.gov, scientific literature and publications in renowned journals such as PubMed and OMIM provide valuable information on CLN7 disease. These articles discuss the latest research findings, case studies, and genetic studies related to the condition.

Advocacy organizations and patient support groups also play a significant role in promoting research and providing resources for CLN7 disease. These organizations help raise awareness, fund research studies, and connect patients and families affected by the condition. They often provide information on ongoing clinical trials, genetic testing, and other resources available to patients.

Overall, ongoing research studies on CLN7 disease focus on expanding our understanding of the condition at a cellular and genetic level, identifying potential treatment options, and improving patient care and support. By collaborating and sharing findings, researchers hope to accelerate progress in the field and eventually find a cure for this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It serves as a valuable resource for clinicians, researchers, and advocacy groups interested in rare genetic diseases. OMIM provides information about the clinical features, genetic inheritance patterns, and other related aspects of various diseases.

The catalog includes a wide range of diseases, including CLN7 disease, also known as CLN7 neuronal ceroid lipofuscinosis. CLN7 disease is a rare neurodegenerative condition that affects the cells in the brain and other tissues. It is associated with mutations in the MFSD8 gene, which is responsible for producing a protein involved in the transport of lipids in cells.

OMIM provides detailed information about CLN7 disease, including its clinical features, age of onset, and patterns of inheritance. It also references scientific literature and other resources that support the information presented. This includes citations to articles in PubMed and clinical trials listed on ClinicalTrials.gov.

For clinicians and researchers, OMIM offers a wealth of information on CLN7 disease and other related genetic conditions. It provides a comprehensive overview of the genetic basis of these diseases and offers insights into potential treatments and diagnostic testing options.

Advocacy groups and patient organizations can also benefit from the information provided by OMIM. It helps them learn more about CLN7 disease and connect with other individuals and families affected by the condition. It also serves as a valuable resource for raising awareness about rare genetic diseases and supporting research efforts.

In conclusion, OMIM’s catalog of genes and diseases, including CLN7 disease, provides a valuable resource for researchers, clinicians, and advocacy groups. It offers comprehensive information about the genetic basis of diseases, clinical features, and other related aspects. This information is supported by scientific literature and other resources, making it a reliable source for learning more about rare genetic diseases like CLN7 disease.

Scientific Articles on PubMed

Rare diseases are a topic of great interest in the scientific community. One such rare condition is CLN7 disease, which is also known as craiu Neuronal Ceroid Lipofuscinosis 7 disease. This condition is associated with a group of diseases that are collectively known as the Neuronal Ceroid Lipofuscinoses (NCLs).

More studies on this rare disease and other NCLs have been conducted to understand the causes, genetic inheritance patterns, and clinical features. Information about the disease, its genes, and proteins can be found from various resources such as OMIM (Online Mendelian Inheritance in Man), scientific articles on PubMed, and clinical trials listed on ClinicalTrials.gov.

Genetic testing is available for CLN7 disease and other NCLs to confirm the genetic cause and provide further information for patient management. The Center for Disease Control and Prevention (CDC) provides support and information about CLN7 disease and other NCLs for patients, their families, and healthcare providers.

In the scientific literature, CLN7 disease is often referred to as CLN7 disease or craiu Neuronal Ceroid Lipofuscinosis 7, with various names used interchangeably. Scientific articles on PubMed provide a wealth of information about this condition, including research studies, clinical trials, and case reports.

One study by Siintola et al. (2006) identified the CLN7 gene as the cause of CLN7 disease through genetic analysis. Another research article by Minassian et al. (2006) described the clinical features and onset of CLN7 disease in a patient. These articles provide valuable insights into the condition and its genetic underpinnings.

In addition to PubMed, other resources such as OMIM and ClinicalTrials.gov can provide further information about CLN7 disease and related conditions. These resources offer a comprehensive catalog of scientific articles, clinical trials, and genetic testing resources for researchers, healthcare providers, and patients.

To learn more about CLN7 disease, its genetic causes, and clinical features, it is recommended to explore the scientific literature and clinical resources available on PubMed, OMIM, and ClinicalTrials.gov. These sources will provide up-to-date information and support for clinicians, researchers, and patient advocacy groups.

References

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