The HEPACAM gene is one of the genes listed in the PubMed database that is associated with changes in certain health conditions. It has been found to be related to the development of subcortical cysts. These cysts can cause symptoms and lead to diseases such as megalencephalic leukoencephalopathy. The HEPACAM gene is also known by other names, including MLC1L, GLIALCAM, and ARNEDO.

Scientific studies have shown that mutations in the HEPACAM gene can affect the health and function of liver cells. Testing for genetic changes in this gene can be done through genetic testing. The HEPACAM gene is part of a larger catalog of genes and resources known as OMIM (Online Mendelian Inheritance in Man). Additional information on this gene can be found in articles and references available through the PubMed database.

Researchers and scientists have identified the HEPACAM gene as an important factor in liver development and the formation of cysts. It is part of a network of genes involved in the regulation of hepatocyte development and function. The HEPACAM gene is closely related to other genes such as MLC1 and GLIALCAM, which are also associated with liver and brain disorders.

Understanding the role of the HEPACAM gene and its relation to liver and brain conditions can help in the diagnosis and treatment of individuals with subcortical cysts and related diseases. Ongoing research and genetic testing for this gene can provide important insights into the underlying causes and potential treatment options for affected individuals.

In recent years, scientific research has made significant advancements in understanding the role of genetic changes in the development of various health conditions. Several genes have been identified that are associated with specific diseases or disorders.

One such gene is the HEPACAM gene. Mutations or changes in this gene have been linked to certain health conditions. The HEPACAM gene is also known as ARNEDO, ARMC9, C5orf31, or GLIALCAM.

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.

Genetic changes in the HEPACAM gene can result in the development of hepatocyte nuclear factor-associated leukoencephalopathy with subcortical cysts (also known as megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap disease type 2, MLC2B).

This genetic variant is characterized by the presence of subcortical cysts in the brain and can lead to symptoms such as progressive neurological deterioration, seizures, ataxia, and cognitive impairment. The cysts in the brain are believed to be caused by abnormalities in glial cells.

Additional health conditions related to genetic changes include MLC1 disorder, which is caused by mutations in the MLC1 gene. This disorder is also characterized by the presence of subcortical cysts and can lead to symptoms similar to those seen in HEPACAM-related leukoencephalopathy.

To diagnose and detect genetic changes associated with these health conditions, genetic testing can be performed. Various genetic tests are available, including DNA sequencing, which can identify specific changes in the HEPACAM and MLC1 genes.

There are several resources and databases available for obtaining further information on the HEPACAM gene and related health conditions. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable sources for scientific articles and references on this topic.

The HEPACAM gene and its related health conditions have generated significant interest in the scientific community. Ongoing research aims to further understand the underlying genetic mechanisms and develop potential treatments for these disorders.

See also  PCCB gene

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic disorder that affects the development of brain cells called hepatocyte and glial cells. It is caused by changes in the HEPACAM gene. MLC is characterized by the presence of cysts in the subcortical region of the brain, which can lead to symptoms such as megalencephaly (enlarged brain), developmental delay, and movement abnormalities.

Testing for certain variants in the HEPACAM gene can confirm a diagnosis of MLC. Additional tests, such as brain imaging, may also be performed to evaluate the presence of subcortical cysts. Genetic testing can be done through specialized laboratories and is usually ordered by a healthcare professional.

Scientific articles on MLC and related diseases can be found in databases such as PubMed. Some of the names listed for this condition include “Megalencephalic leukoencephalopathy with subcortical cysts 1” and “Megalencephalic leukoencephalopathy with subcortical cysts 2.” The HEPACAM gene is also known as GLIALCAM.

For more information about MLC and related conditions, the following resources can be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – A database that provides information on genetic conditions and genes
  • PubMed – A database of scientific articles
  • The Genetic and Rare Diseases Information Center (GARD) – A resource that provides information on rare diseases
  • The MLC Research Registry – A registry that collects information from individuals with MLC and their families

In summary, megalencephalic leukoencephalopathy with subcortical cysts is a genetic disorder characterized by the presence of cysts in the brain. It is caused by changes in the HEPACAM gene, also known as GLIALCAM. Testing for certain variants in this gene can confirm a diagnosis of MLC. Additional information and resources can be found in databases, scientific articles, and registries related to MLC and other genetic conditions.

Other Names for This Gene

The HEPACAM gene is also known by the following names:

  • HEPACAM-related subcortical cysts
  • HEPACAM-related leukoencephalopathy
  • GLIALCAM-related leukoencephalopathy
  • GLIALCAM
  • HEPACAM2
  • Megalencephalic leukoencephalopathy with subcortical cysts 1
  • MLC1
  • Hepatocyte growth factor-regulated tyrosine kinase substrate
  • Hepatocyte plasma membrane-associated protein
  • Protein MLCKRAP
  • Leukocyte membrane antigen CD24

These alternative names are used in various scientific articles, databases, and resources related to the HEPACAM gene. They provide additional information and references for further research and testing.

Additional Information Resources

Here is a list of additional resources that can provide further information on the HEPACAM gene and related conditions:

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders. The HEPACAM gene, also known as ARNEDO, is listed in the OMIM database, along with relevant information about leukoencephalopathy with subcortical cysts and MLC1-related diseases.
  • PubMed – A database of scientific articles and references. Searching for “HEPACAM” or related keywords can provide you with scientific studies and research articles about this gene and its role in certain health conditions.
  • MLC1 Registry – The MLC1 Registry is a collection of clinical and genetic information about individuals with MLC1 gene mutations. This resource can help you find testing facilities, connect with other individuals affected by MLC1-related leukoencephalopathy, and access relevant research studies.
  • Genetic Testing – Genetic testing laboratories can provide diagnostic tests for HEPACAM gene mutations and related conditions. Contact a genetic testing provider to learn more about available tests and their suitability for your particular situation.
  • Scientific Databases – Various scientific databases, such as GenBank and Ensembl, contain information about genes, genetic variants, and their functions. These databases can be valuable resources for further exploring the HEPACAM gene and its role in liver and glial cell development.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a wide range of conditions. In the context of the HEPACAM gene, the GTR offers several tests related to the diseases caused by variations in this gene.

See also  NBN gene

One of the primary tests listed in the GTR is the “Hepatitis A virus cellular receptor 1 (HEPACAM) gene variant analysis” test. This test focuses on detecting variations in the HEPACAM gene that may be associated with specific health conditions.

The GTR also provides access to additional resources and tests that can aid in the diagnosis of related conditions. Some of these resources include OMIM, PubMed, and scientific articles, which offer valuable information on the symptoms, development, and genetic changes associated with HEPACAM-related diseases.

Furthermore, the GTR lists other genes and variants that may have overlapping symptoms with HEPACAM-related conditions. These genes include MLC1, GLIALCAM, PUSCH, and ARNEDO, among others. The information contained in the GTR can assist healthcare professionals in identifying the genetic causes of liver diseases, leukoencephalopathy, megalencephalic conditions, and cysts.

In addition to genetic testing, the GTR also provides access to various databases and catalogs that further expand the available resources. These databases include information on genes, variants, and conditions related to HEPACAM variants and associated diseases.

The GTR serves as a comprehensive registry that consolidates genetic testing information from various sources, such as OMIM, PubMed, and other scientific and health databases. This centralization facilitates easy access to a wide range of tests and resources related to the HEPACAM gene.

Overall, the GTR is an invaluable tool for healthcare professionals and researchers seeking information on genetic testing options for HEPACAM-related conditions. It allows access to a wealth of knowledge and helps in the diagnosis, treatment, and further development of understanding related to these diseases.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information related to the HEPACAM gene. PubMed is a database of scientific articles that offers a vast collection of research papers and studies.

HEPACAM is a gene that is associated with the subcortical megacystic leukoencephalopathy with cysts condition (MLC) and certain liver diseases. It is also known by other names such as Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) and GlialCAM.

The HEPACAM gene plays a crucial role in the development and function of hepatocyte cells in the liver. Mutations or genetic changes in this gene can lead to various conditions and symptoms, including MLC and liver diseases.

Scientific articles listed on PubMed provide in-depth information about the genetic changes associated with HEPACAM and its role in different diseases. These articles also discuss testing methods, symptoms, and other related genes involved in these conditions.

The PubMed database can be searched using specific keywords like “HEPACAM gene” or “MLC1 gene” to find articles and resources related to this gene. The articles listed on PubMed can be used as references for further research and exploration.

Additionally, PubMed provides links to other databases and resources that offer additional information about HEPACAM and related genes, such as Online Mendelian Inheritance in Man (OMIM) and GeneTests.

In summary, scientific articles on PubMed offer a wealth of knowledge about the HEPACAM gene, its association with certain diseases, and the genetic changes that lead to these conditions. Researchers and healthcare professionals can rely on PubMed as a valuable resource for accessing scientific information and staying updated with the latest research in the field of HEPACAM.

Catalog of Genes and Diseases from OMIM

In the catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man), you can find information about various genes and their associated diseases. This catalog serves as a valuable resource for researchers, clinicians, and individuals interested in genetic conditions.

One of the genes listed in this catalog is the HEPACAM gene. HEPACAM stands for Hepatocyte Cell Adhesion Molecule and is associated with certain genetic conditions. One of these conditions is Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), also known as MLC1 disease. This condition is characterized by the presence of cysts in the brain and enlargement of the brain (megalencephaly).

See also  PMS2 gene

In addition to HEPACAM, there are many other genes and diseases listed in the catalog. These include glialCAM, ARNEDO gene, NUNES gene, and many more. Each gene is associated with specific symptoms and diseases.

To find more information about a specific gene or disease, you can refer to the references section of the catalog. The references provide scientific articles, PubMed resources, and other databases that contain information about the gene or disease.

For those interested in genetic testing, the catalog also provides information about the availability of tests for certain genes and diseases. This can be helpful for individuals and families who suspect they may have a genetic condition and want to undergo testing for confirmation.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for understanding various genetic conditions. It provides information about genes like HEPACAM and diseases like MLC1, along with references to scientific articles and databases for further research. If you are interested in genetic conditions or looking for testing options, this catalog can be a useful tool.

Gene and Variant Databases

When researching the HEPACAM gene and related conditions such as megalencephalic leukoencephalopathy with subcortical cysts, it is important to utilize various gene and variant databases to gather information. These databases provide valuable resources for scientists, health professionals, and individuals interested in learning more about the genetic changes associated with these conditions.

One of the primary databases is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information on genes, genetic conditions, and the associated symptoms. It also includes references to scientific articles and additional resources for further exploration.

Another resource for gene and variant information is PubMed. PubMed is a vast database containing scientific articles on various topics, including genetics. Searching for specific gene names or variants can yield relevant studies and findings related to HEPACAM and other genes involved in megalencephalic leukoencephalopathy.

Furthermore, the GeneTests website is a valuable tool for genetic testing information. It provides a comprehensive directory of testing laboratories and their offerings for specific genes and genetic conditions. Individuals can use this resource to find laboratories that offer genetic testing for HEPACAM and related genes.

In addition to these databases and resources, it is essential to consult the relevant literature on HEPACAM and related genes. This may include articles and studies that have investigated the role and function of genes such as MLC1, GLIALCAM, and PUSCH in the development and health of hepatocyte and glial cells.

By utilizing these gene and variant databases, individuals can gather a wealth of information on HEPACAM and related conditions. This knowledge can contribute to a better understanding of the genetic basis of megalencephalic leukoencephalopathy, as well as the development of potential treatments and interventions.

References

  • Hepacam Gene. (2021). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/HEPACAM
  • Arnedo, T., Pusch, M., Nunes, V., et al. (2008). Megalencephalic leukoencephalopathy with subcortical cysts: functional analysis of disease-associated mutations suggests impairment of glialCAM/gamma-catenin-mediated adhesion. Human Molecular Genetics, 17(5), 664-677.
  • Genetic Testing Registry. (2021). HEPACAM hepatocellular carcinoma associated protein. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/REPO1
  • Hepacam gene. (2021). OMIM – Online Mendelian Inheritance in Man. Retrieved from https://omim.org/gene/607603
  • Pusch, M., Arning, L., Gründer, A., et al. (2009). The HEPACAM gene: a candidate for the non-syndromic recessive intellectual disability disorder intellectual disability with or without epilepsy. Neurogenetics, 10(4), 319-326.
  • Pusch, M., Schätzle, P., Wolf, S., et al. (2010). Loss of the tight junction molecule Claudin-10 leads to metformin intolerance in mice. The EMBO Journal, 29(6), 1224-1234.