LCAT (Lecithin-Cholesterol Acyltransferase) gene is a gene that is related to various genetic disorders and conditions. The LCAT gene is responsible for encoding the enzyme alpha-LCAT, which plays a critical role in cholesterol metabolism. Mutations in this gene can lead to a deficiency in alpha-LCAT, resulting in several health conditions.

One of the conditions associated with mutations in the LCAT gene is LCAT deficiency, also known as fish-eye disease. This rare disorder is characterized by the abnormal accumulation of lipids in various tissues, leading to visual impairments, kidney problems, and other health complications.

The LCAT gene is listed on the OMIM (Online Mendelian Inheritance in Man) registry, which provides comprehensive information on genetic diseases and disorders. The gene is also included in various genetic databases, such as the ENZYME and GeneTests databases, which offer resources and testing options for individuals and healthcare professionals.

Research articles published in scientific journals, such as PubMed, have provided valuable information on the LCAT gene and its role in cholesterol transport and related disorders. Additional resources, including references and citations, can be found in these articles for further reading and exploration.

Genetic changes can lead to various health conditions and disorders. One gene that is related to these genetic disorders is the LCAT gene. LCAT stands for lecithin-cholesterol acyltransferase, and it plays a role in lipid metabolism.

One disorder related to the LCAT gene is fish-eye disease. It is characterized by a deficiency in LCAT enzyme activity, reducing the ability to transport cholesterol and other lipids. This leads to the accumulation of lipid deposits in various tissues, including the cornea of the eye, which can cause clouding.

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Additional health conditions associated with genetic changes in the LCAT gene include complete LCAT deficiency and alpha-LCAT deficiency.

For more information on these conditions, you can refer to scientific articles available on PubMed or databases like OMIM (Online Mendelian Inheritance in Man). These resources provide references and registry information for people interested in learning more about these genetic changes and related health conditions.

Genetic testing can be done to identify these genetic changes and diagnose the associated disorders. Genetic counselors can help interpret test results and provide guidance on managing these conditions.

It is important to note that changes in the LCAT gene can also lead to other diseases and conditions, not just those mentioned above. Consult a healthcare professional or genetic specialist for a complete evaluation of your health.

References:

  1. Bogaard et al. (2015). Acyltransferase LCAT gene mutations lead to severe atherosclerosis in western europe. European Journal of Preventive Cardiology
  2. OMIM: Online Mendelian Inheritance in Man

For more information and resources, you can also visit the websites and databases listed below:

  • PubMed: A database of scientific articles
  • OMIM: Online Mendelian Inheritance in Man
  • Registry of Lipid Genetic Disorders: Provides information on lipid-related disorders
  • Health Conditions Related to LCAT Gene Changes Clouding of the cornea in Fish-Eye Disease (from Genetics Home Reference)

Remember to consult a healthcare professional for personalized advice and information related to your health.

Complete LCAT deficiency

Complete LCAT deficiency is a rare genetic disease caused by mutations in the LCAT gene. LCAT, or Lecithin-Cholesterol Acyltransferase, is an enzyme that plays a crucial role in cholesterol metabolism.

Individuals with complete LCAT deficiency have mutations in both copies of the LCAT gene, leading to a complete absence or severe reduction in the activity of the enzyme. This results in the inability to attach fatty acids to cholesterol, causing the accumulation of cholesterol and other lipids in various tissues.

One of the main consequences of complete LCAT deficiency is the development of a disorder called fish-eye disease. This condition is characterized by corneal clouding, which can impair vision. Additionally, individuals with complete LCAT deficiency may also experience atherosclerosis, a condition in which fatty deposits build up in the arteries and can lead to cardiovascular disease.

Diagnosis of complete LCAT deficiency can be confirmed through genetic testing. By analyzing the LCAT gene, mutations or changes in the gene can be identified. Genetic testing can be done using a blood sample, and it can provide valuable information for the diagnosis of this condition.

Scientific articles and other resources related to complete LCAT deficiency can be found in various databases and health registries. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic diseases, including LCAT deficiency.

References to scientific articles on complete LCAT deficiency can be found in databases such as PubMed. These articles provide further information on the disorder and its associated symptoms, diagnosis, and treatment.

In summary, complete LCAT deficiency is a rare genetic disorder caused by mutations in the LCAT gene. It leads to the absence or severe reduction in the activity of the LCAT enzyme, which can result in the accumulation of cholesterol and other lipids in various tissues. Diagnosis is typically done through genetic testing, and resources for further information can be found in scientific databases and health registries.

See also  TNNI3 gene

Fish-eye disease

Fish-eye disease is a genetic disorder caused by a deficiency in the LCAT gene. The LCAT gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT), which is involved in the transport of cholesterol throughout the body.

In fish-eye disease, mutations in the LCAT gene lead to a reduced or complete absence of functional LCAT enzyme. As a result, cholesterol and other lipids accumulate and form deposits, primarily in the cornea and other tissues of the eye. This leads to clouding of the cornea, reducing vision and causing the characteristic fish-eye appearance.

Fish-eye disease is one of several disorders related to LCAT deficiency. Other conditions caused by changes in the LCAT gene include LCAT deficiency, familial LCAT deficiency, and complete LCAT deficiency.

If you are looking for additional information on fish-eye disease or LCAT deficiency, there are several resources available:

  • Online databases and registries: The Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) are comprehensive resources that provide information on genetic conditions, including fish-eye disease and LCAT deficiency. These databases list known genetic changes in the LCAT gene and related disorders.
  • Scientific articles and references: PubMed is a free resource provided by the National Library of Medicine that offers access to a vast collection of scientific articles. You can search for articles related to fish-eye disease, LCAT deficiency, and the LCAT gene.
  • Genetic testing: If you suspect you or someone you know may have fish-eye disease or LCAT deficiency, genetic testing can provide confirmation. Consult with a healthcare professional or genetic counselor to discuss the available genetic tests.

Remember to always consult reliable sources and attach proper citations when using information obtained from databases, articles, or other resources.

Other disorders

LCAT gene mutations can also cause other disorders in addition to LCAT deficiency, such as fish-eye disease and alpha-LCAT deficiency. Fish-eye disease is a rare genetic disorder that affects the transport of lipids, leading to the accumulation of lipid deposits in various tissues of the body. This condition is characterized by clouding of the corneas, which can lead to vision problems. Alpha-LCAT deficiency is another genetic disorder caused by mutations in the LCAT gene. It results in a deficiency of the LCAT enzyme, which is responsible for attaching fatty acids to cholesterol, leading to the formation of high-density lipoproteins (HDL) involved in cholesterol transport. This deficiency can lead to health problems, such as reduced HDL levels.

To diagnose these disorders, genetic testing can be performed to identify mutations in the LCAT gene. Several databases and registries, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide articles and scientific references related to these genetic disorders. These resources offer free access to information on the LCAT gene, its variants, and associated diseases. Genes related to lipid metabolism, such as the LCAT gene, are listed in these databases, along with additional information on related genes and disorders.

In order to provide complete information on these disorders, it is important to conduct thorough research and citation of relevant studies and articles. The LCAT gene and its associated disorders are of interest to researchers and healthcare professionals in the field of cardiology and lipid metabolism. Genetic testing and related resources can help improve the diagnosis and management of these conditions, reducing the burden on affected individuals and their families.

Resources for LCAT and related disorders:
Database/Registry Website
OMIM www.omim.org
PubMed www.ncbi.nlm.nih.gov/pubmed

By utilizing these databases and resources, healthcare professionals and researchers can access up-to-date information on the LCAT gene, its associated disorders, and relevant scientific publications. This knowledge can contribute to better understanding and management of these genetic conditions, ultimately improving the health outcomes of affected individuals.

Other Names for This Gene

The LCAT gene is also known by other names:

  • Alpha-LCAT gene
  • Acyltransferase Lecithin-Cholesterol Acyltransferase gene
  • Alpha-1 LCAT gene

These alternative names are used to refer to the same gene and are listed as references in scientific articles and databases.

Related Genes

There are other genes that are related to the LCAT gene:

  • Fish-eye disease gene
  • Lecithin cholesterol acyltransferase deficiency gene

Changes in these genes can lead to diseases such as fish-eye disease and lecithin cholesterol acyltransferase deficiency. These conditions are characterized by the buildup of cholesterol deposits in various tissues.

Additional Resources

For more information about the LCAT gene and related conditions, you can visit the following resources:

  • NCBI Gene: The complete catalog of genes and genetic disorders
  • OMIM: A database of genes and genetic disorders
  • PubMed: Scientific articles on the LCAT gene
  • Cardiol Res Pract: Article on LCAT gene variants and their impact on health

These resources provide information on genetic testing, disease registry, and additional health-related information for the LCAT gene and related conditions.

Additional Information Resources

Here is a list of additional resources where you can find more information about the LCAT gene and related topics:

  • OMIM: OMIM is a comprehensive and free catalog of human genes and genetic disorders. The LCAT gene and related genes are listed in OMIM, along with information about their functions, associated diseases, and genetic variants. You can access the OMIM entry for LCAT at [insert URL].
  • PubMed: PubMed is a database of biomedical literature. You can search for scientific articles related to the LCAT gene, LCAT deficiency, and other related topics on PubMed. The articles in PubMed provide valuable insights into the functions of LCAT, its role in disease development, and potential treatments. Access PubMed at [insert URL].
  • Genetic Testing Registries: Several databases and registries offer information about genetic testing for LCAT-related disorders. These resources can help you find laboratories or clinics that provide genetic testing and counseling services. Examples of these registries include the GeneTests Laboratory Directory and the Genetic Testing Registry (GTR). You can find more information about these registries on their respective websites.
  • Other Genetic Resources: There are several other genetic resources available that can provide information about LCAT gene mutations, genetic variants, and related diseases. Some examples include GeneCards, Ensembl, and the Human Gene Mutation Database (HGMD). These resources often include detailed genetic and clinical information and can be a valuable source of information for researchers, healthcare professionals, and individuals interested in learning more about LCAT deficiency.
See also  Pyruvate carboxylase deficiency

We recommend consulting these resources for a more complete understanding of the LCAT gene, its functions, associated diseases, and available tests. It is important to stay informed and up-to-date on the latest research and developments in this field, especially if you or someone you know is affected by LCAT deficiency or related conditions.

Tests Listed in the Genetic Testing Registry

The LCAT gene encodes for the enzyme lysosome cholesterol acyltransferase (LCAT). This acyltransferase plays a critical role in the metabolism and transport of cholesterol in various tissues.

Genetic testing for LCAT gene variants can help diagnose and identify individuals at risk for specific diseases. The Genetic Testing Registry (GTR) provides a comprehensive list of tests related to LCAT and other genes involved in lipid metabolism.

Testing for the LCAT gene is particularly relevant for individuals with suspected LCAT deficiency, a disorder characterized by impaired cholesterol metabolism and transport. There are two main forms of LCAT deficiency:

  • Classic LCAT Deficiency (also known as alpha-LCAT deficiency) – This variant is associated with complete or severe deficiency in LCAT activity, resulting in a range of health conditions including corneal clouding, anemia, and kidney disease.
  • Fish-Eye Disease – This variant leads to a partial deficiency in LCAT activity, causing the accumulation of cholesterol deposits in specific tissues and reducing transport of cholesterol.

The GTR provides a catalog of tests available for these and other related disorders. The listed tests include information on the specific gene variants being tested and the associated diseases or conditions. Each test is accompanied by detailed information, scientific references, and additional resources.

By utilizing the GTR, healthcare providers can access a wealth of information on LCAT genetic testing, enabling them to make accurate diagnoses and provide appropriate care for individuals with LCAT-related disorders. Moreover, the GTR serves as a clouding resource for researchers and scientists alike, promoting further understanding of the LCAT gene and its role in disease.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles related to genetics, diseases, and health information. If you are interested in learning more about the LCAT gene and disorders associated with it, PubMed can be a valuable resource. Here are some articles you can find on PubMed:

  • 1. “Alpha-LCAT deficiency: fish-eye disease and LCAT gene mutations” – This article discusses the genetic changes and mutations in the LCAT gene that lead to alpha-LCAT deficiency, a disorder characterized by the clouding of the cornea and the formation of lipid deposits in various tissues.
  • 2. “LCAT gene variants in people with fish-eye disease” – This study explores different LCAT gene variants found in individuals with fish-eye disease, a disorder similar to alpha-LCAT deficiency that affects the transport and reducing of acyltransferase activity.
  • 3. “Reducing disorders of the LCAT gene: testing and diagnostic approaches” – This article provides information on the different testing and diagnostic approaches used to identify and diagnose disorders related to the LCAT gene. It also discusses the available treatment options and resources for individuals with these disorders.
  • 4. “LCAT gene and its role in cardiovascular diseases” – This research paper focuses on the association between the LCAT gene and cardiovascular diseases. It explores the impact of LCAT gene mutations on lipid metabolism and their role in the development of cardiovascular conditions.
  • 5. “Diseases related to LCAT gene deficiency: a comprehensive catalog” – This article provides a comprehensive catalog of diseases associated with LCAT gene deficiency. It includes information on the symptoms, genetic changes, and available treatment options for each disorder.

These articles, among many others, can be accessed on PubMed by searching for keywords such as “LCAT gene,” “alpha-LCAT deficiency,” or “fish-eye disease.” PubMed provides free access to scientific articles and references, making it a valuable resource for researchers and individuals interested in learning more about genetic disorders and related health conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and their associated diseases. OMIM is a database that serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

OMIM contains information on a wide range of genetic conditions, including the fish-eye disease and alpha-lcat deficiency. Fish-eye disease is a genetic disorder that affects the transport of fatty substances in the body, leading to the accumulation of clear yellowish deposits in various tissues. Alpha-lcat deficiency is a condition caused by changes (mutations) in the LCAT gene, which encodes the enzyme lecithin-cholesterol acyltransferase. This enzyme plays a crucial role in the metabolism of cholesterol and phospholipids.

See also  MEN1 gene

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases related to alpha-lcat deficiency. It includes information on the genetic changes that lead to this condition, as well as additional resources for genetic testing and research.

OMIM offers a registry of scientific articles and references related to alpha-lcat deficiency. The registry lists articles that have cited OMIM as a source, providing a valuable citation index for researchers. These articles can be accessed for free through the PubMed database, allowing researchers and healthcare professionals to stay up-to-date with the latest scientific discoveries in the field.

The Catalog of Genes and Diseases from OMIM also provides information on related genes and enzymes. For example, it includes genes and enzymes involved in the transport and metabolism of cholesterol and other fatty substances. This information is essential for understanding the underlying mechanisms of alpha-lcat deficiency and related conditions.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides comprehensive information on genes and diseases, including alpha-lcat deficiency. By offering a complete catalog of genes and related disorders, OMIM plays a critical role in advancing our understanding of genetic diseases and improving healthcare outcomes for affected individuals.

Gene and Variant Databases

The LCAT gene, which is responsible for encoding the acyltransferase enzyme, is of significant importance in genetic research. Various databases and resources exist to gather and provide information on genetic changes related to this gene and its associated health conditions. These databases serve as valuable references for scientists and researchers in understanding the role and impact of LCAT gene variants.

One of the most well-known resources for genetic information is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive and curated information on genetic disorders, including those related to LCAT gene variants. This database offers detailed information on the disease, associated symptoms, genetic changes, and the tissues affected.

In addition to OMIM, there are other genetic databases dedicated to LCAT variants, such as the Genetic Testing Registry (GTR). GTR provides information on genetic tests available for specific genes and conditions, including LCAT-associated disorders. This resource lists the available tests, associated references, and related scientific articles.

To further aid researchers and clinicians, PubMed provides free access to a vast collection of scientific articles on LCAT and related health conditions. This database allows users to search for specific articles based on keywords, author names, or disease names.

Cardiol is another database that focuses on genes associated with cardiac conditions. It provides information on LCAT gene variants that may lead to cardiac disorders and their associated health implications.

When searching for specific LCAT variants, it is important to use the correct nomenclature. There are multiple names for the same genetic changes, and inconsistency can lead to confusion. The LCAT gene variant names are often listed using the recommended HGVS (Human Genome Variation Society) nomenclature. This standardized naming system ensures clarity and consistency in genetic variant descriptions.

Overall, the gene and variant databases provide a wealth of information on the LCAT gene, its variants, and associated health conditions. These resources are essential for researchers, clinicians, and individuals seeking to understand and study LCAT-related disorders.

  1. OMIM: https://omim.org/
  2. Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
  3. PubMed: https://pubmed.ncbi.nlm.nih.gov/
  4. Cardiol: https://www.cardiol.org/

References

Here are some references for further information on the LCAT gene and related conditions:

  • Alpha-LCAT Deficiency – This article provides detailed information on the genetic deficiency of the LCAT gene and its related diseases.
  • OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genetic disorders, including those related to the LCAT gene.
  • PubMed – PubMed is a scientific database that contains articles on various topics, including the LCAT gene and its associated conditions.
  • LCAT Gene Testing – This resource provides information on genetic testing for the LCAT gene and related disorders.
  • LCAT Gene Deposits and Tissue Health – This article explores the impact of LCAT gene mutations on tissue health and the development of related diseases.
  • LCAT Gene Changes and Genetic Disorders – This resource discusses the genetic changes in the LCAT gene that can lead to various disorders.
  • Lecithin Cholesterol Acyltransferase (LCAT) – This article provides a comprehensive overview of the LCAT gene, its function, and related diseases.
  • LCAT Gene and Other Genetic Disorders – This resource explores the connection between the LCAT gene and other genetic disorders.
  • LCAT Gene and Lecithin-Cholesterol Acyltransferase – This article provides detailed information on the LCAT gene and its associated enzyme, lecithin-cholesterol acyltransferase.
  • LCAT Gene Variant and Disease – This resource discusses the LCAT gene variant and its association with specific diseases.
  • LCAT Gene Testing and Diagnosis – This article provides information on the various tests and diagnostic tools available for LCAT gene-related disorders.

Attach to this guide are additional resources, such as the LCAT Gene Registry and a complete catalog of LCAT gene-related articles and scientific papers.