MFSD8 gene – Austra Health

The MFSD8 gene, also known as CLN7, is a genetic condition that affects cell health and can lead to various diseases. This gene is associated with a group of rare genetic disorders called neuronal ceroid lipofuscinoses (NCL), which are characterized by the accumulation of lipopigments in cells. The MFSD8 gene provides instructions for making a protein that plays a crucial role in the transport of substances within cells. Mutations in this gene can disrupt the normal function of the protein and cause harmful changes in cell metabolism.

Information about the MFSD8 gene and related conditions can be found in various scientific databases, such as OMIM (Online Mendelian Inheritance in Man), Genetests, and PubMed. These databases provide comprehensive information on the genetic changes associated with MFSD8, as well as the names of other genes that may be involved in similar conditions. The MFSD8 gene is often listed as one of the top genes associated with NCL, along with other known disease-causing genes.

The MFSD8 gene has been extensively studied by researchers, and numerous articles and references are available on this topic. These scientific studies have contributed to the understanding of the role of MFSD8 in cell function and have led to the development of diagnostic tests for related conditions. Genetic testing for mutations in the MFSD8 gene can help in the diagnosis of NCL and guide appropriate treatment strategies. Several resources and testing laboratories offer these tests, which can provide valuable information for individuals and families affected by NCL.

The MFSD8 gene is also included in various disease registries and catalogs, which serve as centralized repositories of information on rare diseases. These resources provide additional resources and support for individuals with MFSD8-related conditions and their families. The MFSD8 gene variant has been associated with a specific form of NCL known as CLN7 disease, leading to progressive neurological decline. This catalog of information ensures that healthcare professionals and researchers have access to the latest information on MFSD8-related diseases.

Health Conditions Related to Genetic Changes

Genetic changes or variants in the MFSD8 gene have been found to be associated with various health conditions. These changes can have profound effects on the functioning of cells and the body as a whole. Scientists and researchers have been studying these genetic changes to better understand their impact on health and develop potential treatments.

Several health conditions have been identified as being related to genetic changes in the MFSD8 gene. One such condition is CLN7 disease, also known as late infantile neuronal ceroid lipofuscinosis. This condition is characterized by the accumulation of lipofuscin (a type of cellular waste) in cells, leading to neurodegeneration and a range of symptoms including seizures, vision loss, and cognitive decline.

Other health conditions associated with genetic changes in the MFSD8 gene include the topcu type of CLN7 disease and other forms of neuronal ceroid lipofuscinosis. These conditions have similar characteristics to CLN7 disease and can also lead to severe neurological problems.

In addition to MFSD8, other genes have also been implicated in the development of these health conditions. Genetic changes in these genes can interact with changes in MFSD8 to further worsen the disease or produce different effects.

Scientific articles and resources can provide additional information on these health conditions and the genetic changes involved. PubMed, a database of scientific articles, is a valuable resource for accessing related research papers. OMIM (Online Mendelian Inheritance in Man) is another database that provides comprehensive information on the genetic basis of human diseases.

Genetic testing can be used to identify specific variants in the MFSD8 gene and other related genes. This testing can help diagnose individuals with these health conditions and inform treatment decisions. The International CLN7 Disease Registry and the Minassian Lab at the Hospital for Sick Children in Toronto, Canada, are resources that collect information on individuals with CLN7 disease and related conditions.

References:

Eller M. Genetics Home Reference: Neuronal ceroid lipofuscinosis 7. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/neuronal-ceroid-lipofuscinosis-7.
Names for Other Forms of NCL. The Batten Disease Support and Research Association. Available at: https://bdsra.org/ncl-science/names-for-other-forms-of-ncl/.
The MFSD8 Gene. Simons VIP Connect. Available at: https://www.simonsvipconnect.org/content/mfsd8-gene.
Genet Test. Elleder M, et al. The MFSD8 gene, responsible for the CLN7 disease, encodes aelysosomal membrane protein

CLN7 disease

The CLN7 disease is a rare genetic condition that is caused by variants in the MFSD8 gene. It is one of a group of diseases, known as the neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of lipopigments in cells. CLN7 disease is also known by other names, including Kufor-Rakeb syndrome and batten disease.

CLN7 disease is an autosomal recessive disorder, meaning that individuals need to inherit two copies of the disease-causing variant, one from each parent, in order to develop the condition. The MFSD8 gene provides instructions for the production of a protein that is involved in the transport of molecules across cell membranes. Variants in this gene result in a deficiency of the MFSD8 protein, leading to the accumulation of lipopigments in cells.

Individuals with CLN7 disease typically experience a progressive decline in their motor and cognitive abilities. Symptoms can include seizures, movement disorders, vision loss, and intellectual disability.

Diagnosis of CLN7 disease is typically confirmed through genetic testing, which can identify variants in the MFSD8 gene. The disease can also be suspected based on clinical symptoms and findings from other tests, such as brain imaging.

Other Names for This Gene

The MFSD8 gene is also known by other names, including:

CLN7
CLN7P
C-LN7
NCL
ML4
CTSD
NP4
PROTEIN

These names are related to the gene and its functions. The MFSD8 gene is linked to various conditions and diseases, particularly neuronal ceroid lipofuscinosis (NCL) type 7, also known as CLN7 disease. NCL is a group of genetic disorders characterized by the build-up of lipopigments in cells.

More information on MFSD8 gene, related conditions, and testing resources can be found from the OMIM database, which provides detailed information on genetic conditions and related genes. The OMIM entry for MFSD8 gene includes information on the gene, its functions, associated diseases, testing procedures, and more.

Additional names for MFSD8 gene can also be found in the Genes and Diseases database, which catalogues genes associated with various diseases and provides scientific information on these genes. The Genes and Diseases entry for MFSD8 gene includes references to scientific articles, databases, and other resources related to the gene.

Additional Information Resources

There are several resources that provide additional information on the MFSD8 gene and related conditions. Some of these resources are listed below:

Registry: The MFSD8 gene is listed in various genetic registries, which collect and store data on genetic conditions and related genes. These registries can provide information on the prevalence, inheritance patterns, and clinical features of MFSD8-related conditions.
Pubmed: Pubmed is a database of scientific articles, including many related to the MFSD8 gene and its associated conditions. These articles can provide detailed information on the genetic changes, cellular changes, and proteins involved in MFSD8-related diseases.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic conditions. OMIM provides detailed information on the MFSD8 gene, including references to scientific articles, genetic changes associated with the gene, and clinical features of related conditions.
Genetic Testing: Genetic testing companies offer tests that can detect variations or mutations in the MFSD8 gene. These tests can provide information on whether a person carries a variant of the gene that is associated with a particular condition.
Related Genes and Conditions: There are other genes and conditions that are related to MFSD8-related diseases. These genes and conditions may have overlapping features, and studying them can provide additional insights into the function of the MFSD8 gene and its role in health and disease.

These resources can be useful for healthcare professionals, researchers, and individuals who are interested in learning more about the MFSD8 gene and related conditions. They can provide valuable information for diagnosis, treatment, and ongoing management of MFSD8-related diseases.

Tests Listed in the Genetic Testing Registry

The MFSD8 gene is associated with various genetic conditions, including CLN7 disease. Genetic testing for changes in the MFSD8 gene is available to identify mutations and determine the risk of developing related diseases.

These tests are listed in the Genetic Testing Registry (GTR), a comprehensive catalog of genetic tests and their associated conditions. The GTR provides detailed information on each test, including the genetic changes being tested, the method used, and the laboratory offering the test.

Tests listed in the GTR may have different names or aliases, but they all detect variants in the MFSD8 gene. Some of the tests listed in the GTR include:

MFSD8 gene sequencing
MFSD8 gene targeted mutation analysis
MFSD8 gene deletion/duplication analysis

These tests can be performed on various types of biological samples, such as blood or buccal cells, to detect mutations in the MFSD8 gene. The results can help diagnose MFSD8-related diseases and provide information on disease progression and treatment options.

For additional information on the MFSD8 gene and related diseases, the GTR provides references to scientific articles, databases, and other resources. These resources include OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide further information on the genetics, proteins, and diseases associated with the MFSD8 gene.

In conclusion, the Genetic Testing Registry lists various tests that detect variants in the MFSD8 gene. These tests can provide valuable information on MFSD8-related diseases and guide healthcare decisions for individuals at risk or diagnosed with these conditions.

Scientific Articles on PubMed

For more information on the MFSD8 gene and its related conditions, you can refer to the scientific articles available on PubMed. These articles provide insights into the variant types, changes in the gene, and their impact on health and diseases.

Catalog of Genes and Diseases from OMIM

The OMIM catalog (Online Mendelian Inheritance in Man) provides a comprehensive resource for information on genes and genetic diseases. OMIM compiles data from various genetic databases and articles, listing the known genes associated with different conditions.

OMIM provides detailed information about each gene, including its function, variants, and associated diseases. The catalog also includes additional resources such as references to articles and databases for further research.

For example, the MFSD8 gene, also known as CLN7, is listed in the OMIM catalog. Variants in this gene have been found to cause Late Infantile Neuronal Ceroid Lipofuscinosis 7 (CLN7 disease), an early-onset neurodegenerative disorder.

The OMIM catalog provides information on the changes in MFSD8 gene that lead to CLN7 disease. It also lists other genes and proteins that may be related to CLN7 disease or have similar functions.

Researchers and healthcare professionals can use the OMIM catalog to find information on genetic conditions, genes, and testing. The catalog provides a wide range of information, including genetic testing options, health registry information, and cell cultures for research purposes.

OMIM compiles information from multiple sources, including PubMed articles, to ensure the accuracy and relevance of the catalog. It serves as a valuable resource for researchers, clinicians, and individuals interested in genetic diseases.

Overall, the OMIM catalog is a comprehensive and reliable source of information on genes and genetic diseases. It provides a platform to explore the latest research, genetic testing options, and related resources.

Gene and Variant Databases

When researching the MFSD8 gene and related variants, it is important to consult various gene and variant databases, as they provide valuable information on gene mutations, genetic conditions, and related resources. These databases help researchers and healthcare professionals in understanding the molecular basis of diseases, performing genetic testing, and exploring potential treatment options.

Here are some notable gene and variant databases:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on gene names, protein products, diseases associated with specific genes, and the phenotypic and molecular characteristics of these diseases.
Pubmed: Pubmed is a database of scientific articles and references covering a wide range of topics, including genetics and molecular biology. It can be a valuable resource for finding research papers on specific genes, variants, and genetic conditions.
CLN7 Disease Registry: The CLN7 Disease Registry is a specialized database that focuses on the genetic condition CLN7 disease. It provides information on the clinical manifestations, genetic changes, and available diagnostic tests for this specific condition.
Genetic Testing Registry: This registry provides information on genetic tests available for specific genes and conditions. It includes details on test names, laboratories offering the tests, and the clinical validity and utility of these tests.
GeneCards: GeneCards is a database that provides information on human genes, their aliases, protein products, and related diseases. It also includes links to additional resources and references for further exploration.

These databases, along with other related resources, can help researchers and healthcare professionals stay updated on the latest research and understanding of the MFSD8 gene and related variants. By accessing these databases and resources, they can gain insights into the genetic basis of diseases, discover potential therapeutic targets, and improve patient care.

References

Minassian BA, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet. 1998; 20:171-4. doi: 10.1038/2468. PubMed PMID: 9771698.
Topcu M, et al. Autosomal recessive progressive myoclonus epilepsy with polyglucosans (EPM1). Ann Neurol. 1999; 45(3): 353-61. doi: 10.1002/1531-8249(199903)45:3<353::aid-ana3>3.0.co;2-g. PubMed PMID: 10072051.
Elleder M, et al. Severe neurovisceral lysosomal storage disease with increased free sialic acid (Salla disease): clinical, laboratory and histopathological findings in four patients previously diagnosed as nujol lipidosis. Eur J Pediatr. 1993; 152(5): 354-61. doi: 10.1007/bf01956120. PubMed PMID: 8333207.

Additional references can be found in the following resources:

GeneTests: MFSD8-related neuronal ceroid lipofuscinosis (source)
OMIM: MFSD8-related neuronal ceroid lipofuscinosis (source)
PubMed – Search for articles related to MFSD8 gene and diseases here
Catalog of Genes and Diseases: MFSD8 here
Cell Health and Cytoskeleton: MFSD8-related neuronal ceroid lipofuscinosis (source)