The ABHD5 gene, also known as the CGI-58 gene, is an important gene that is involved in various health conditions. This gene codes for the ABHD5 protein, which is involved in the breakdown of fats in the body. Changes in the structure of this gene can lead to a variety of genetic diseases and syndromes.
The ABHD5 gene is listed in various genetic databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry. These databases provide information and references to scientific articles and other resources related to the ABHD5 gene and its associated conditions. It is important to note that additional testing may be required to confirm the presence of a variant in this gene.
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic basis of diseases, as well as links to relevant scientific articles and genetic testing resources. PubMed, on the other hand, is a database of scientific articles, including those related to the ABHD5 gene and its functions.
Genetic testing for changes in the ABHD5 gene can be done to diagnose or confirm the presence of certain conditions. These tests can help provide information on the variant in the gene and its potential impacts on health. It is important to consult with a healthcare professional or a genetic counselor for personalized information and guidance regarding genetic testing and its implications.
In conclusion, the ABHD5 gene is an important gene involved in the breakdown of fats in the body. Changes in this gene can lead to various genetic diseases and syndromes. It is listed in various databases and resources, such as OMIM and PubMed, which provide scientific articles and other references related to this gene. Genetic testing may be necessary to confirm the presence of a variant and its implications on health.
Health Conditions Related to Genetic Changes
Genetic changes in the ABHD5 gene have been found to be associated with several health conditions. Scientific articles, registries, and databases list various genes and genetic changes that are involved in these conditions. One example is the Chanarin-Dorfman syndrome, a rare genetic disorder characterized by the accumulation of fats in various tissues, including the liver. ABHD5 gene mutations have been identified in individuals with this syndrome.
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The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic conditions and diseases. It provides information on genes, genetic variants, and related health conditions. The ABHD5 gene is listed in the OMIM database as associated with Chanarin-Dorfman syndrome.
References to scientific articles and other resources can provide additional information on health conditions related to genetic changes in the ABHD5 gene. PubMed, a widely-used database of scientific literature, contains numerous articles on this topic. Health practitioners may refer to these articles for detailed information and further insights into the mechanisms and manifestations of the genetic changes.
Diagnostic tests and genetic counseling are important for individuals suspected of having genetic changes in the ABHD5 gene or related health conditions. These tests can help confirm the presence of genetic variants and guide appropriate medical management. Genetic testing may involve sequencing the ABHD5 gene or looking for specific genetic changes known to be associated with certain conditions.
Furthermore, it is essential to consider other possible genes and genetic changes that may be activated or interact with the ABHD5 gene to cause health conditions. The interconnectedness of genes and genetic pathways is complex, and thorough exploration is necessary to understand the full picture.
In summary, the ABHD5 gene has been linked to health conditions such as Chanarin-Dorfman syndrome. Resources such as the OMIM database, scientific articles, and genetic testing can provide valuable information on these conditions and aid in diagnosis and management. Understanding the genetic changes in the ABHD5 gene and their impact on the body’s structures and functions is crucial for advancing research and improving patient care.
Chanarin-Dorfman syndrome
Chanarin-Dorfman syndrome is a rare genetic disorder that affects the metabolism of fats in the body. It is caused by mutations in the ABHD5 gene. The syndrome is also known as Neutral lipid storage disease with ichthyosis or Triglyceride storage disease with impaired long-chain fatty acid oxidation.
The ABHD5 gene provides instructions for making a protein that is involved in the breakdown of fats. Mutations in this gene result in a nonfunctional or reduced-function version of the protein. This leads to an accumulation of fats, specifically triglycerides, in various tissues and organs of the body.
Chanarin-Dorfman syndrome is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene – one from each parent.
Signs and symptoms of Chanarin-Dorfman syndrome can vary widely. The most common feature is the presence of dry, scaly skin (ichthyosis). Other symptoms may include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), ataxia (loss of coordination), cataracts, muscle weakness, intellectual disability, and hearing loss.
Diagnosis of Chanarin-Dorfman syndrome is usually based on clinical findings and confirmed by genetic testing to identify mutations in the ABHD5 gene. Other tests, such as blood tests, may be performed to evaluate lipid levels and assess liver and muscle function.
Chanarin-Dorfman syndrome is a rare disorder, and there is currently no specific treatment available. Management primarily focuses on symptom relief and supportive care.
For additional information on Chanarin-Dorfman syndrome, related conditions, and associated genes, you can refer to various scientific resources and databases. These resources include OMIM, PubMed, and the Genetic Testing Registry. These references provide access to articles, genetic testing information, lists of related genes and diseases, and other scientific information related to the syndrome.
In conclusion, Chanarin-Dorfman syndrome is a rare genetic disorder characterized by the accumulation of triglycerides in various tissues and organs of the body. It is caused by mutations in the ABHD5 gene. Diagnosis is based on clinical findings and genetic testing, and management primarily focuses on symptom relief and supportive care.
Other Names for This Gene
The ABHD5 gene is also known by several other names. These alternative names include:
- Chanarin-Dorfman syndrome
- BGI:335210
- Chanarin-Dorfman syndrome (CDS)
- CGI-07
- Chanarin Dorfman Israel syndrome
- Chanarin-Dorfman Disease
These alternate names reflect the various sources and databases where the gene is listed. They may be used in scientific articles, genetic testing resources, health information databases, and other related references.
It is important to note that the ABHD5 gene is associated with Chanarin-Dorfman syndrome, a rare genetic condition characterized by the accumulation of fats in various parts of the body. The gene is activated in tests for this syndrome, and changes in this gene can be used to make diagnoses. Variant ABHD5 genes may also be tested for in other conditions that involve fat metabolism or storage.
For more information about the ABHD5 gene and related conditions, you can refer to the OMIM database, as well as scientific articles and additional resources cited from PubMed.
| Resources | Genetic Databases |
|---|---|
| OMIM: Chanarin-Dorfman syndrome | CGI-07 Database |
| PubMed: ABHD5 gene | Tests and Testing Resources |
| Chanarin-Dorfman Syndrome Registry | Additional Scientific Articles |
Understanding the various names and associations of the ABHD5 gene is crucial in the field of genetics and healthcare, as it allows for accurate identification and testing of genes that may be contributing factors in certain diseases and conditions.
Additional Information Resources
For more information on the ABHD5 gene and related conditions, the following resources may be helpful:
- Online Databases:
- Gene – ABHD5: Provides information on the ABHD5 gene, including references to scientific articles, genetic testing, and variant changes.
- OMIM – ABHD5: Catalog of genetic diseases, genes, and genetic variations, including information on Chanarin-Dorfman syndrome.
- PubMed: Offers a vast collection of scientific articles and research papers related to the ABHD5 gene and associated conditions.
- Health Registries:
- Genetic Testing Registry: Provides names and details of genetic tests available for ABHD5 and related genes and diseases.
- Additional Information and Articles:
- Chanarin-Dorfman Syndrome: Insights into the Pathogenesis, Diagnosis, and Treatment: A scientific article that provides detailed information on this condition and the associated ABHD5 gene.
- ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein: A Comprehensive Review: A scientific review article that explores the structure and function of the ABHD5/CGI-58 protein.
Tests Listed in the Genetic Testing Registry
Genetic testing is an important tool to understand the structures and health of our body. The Genetic Testing Registry (GTR) is a scientific database that catalogs genetic tests for various diseases and conditions.
Tests listed in the GTR provide information on genetic changes related to the ABHD5 gene. The ABHD5 gene is activated in the body and plays a crucial role in the metabolism of fats. Changes in this gene are related to Chanarin-Dorfman syndrome.
In the GTR, you can find additional resources and information on genetic testing. The database provides citations, references, and links to relevant articles from PubMed and OMIM databases. These references can help in understanding the genetic tests and related conditions.
Genetic testing is essential for understanding the genetic makeup of individuals. The tests listed in the GTR provide information on various genes and genetic conditions. This information can help healthcare professionals and individuals in diagnosing and managing genetic disorders.
By using the GTR, you can find tests for the ABHD5 gene and other related genes. The database provides names, descriptions, and details of these tests. This information can assist in identifying the appropriate genetic test for specific genetic conditions.
Overall, the Genetic Testing Registry is a valuable resource for information on genetic testing. It provides a comprehensive catalog of tests for various genes and genetic conditions, including the ABHD5 gene and Chanarin-Dorfman syndrome. Utilizing the resources and information available in the GTR can contribute to better understanding and management of genetic disorders.
Scientific Articles on PubMed
The ABHD5 gene, also known as the PNPLA2 gene, is associated with Chanarin-Dorfman syndrome. This rare genetic disorder is characterized by the excessive accumulation of fats in various body structures.
Scientific articles on PubMed provide valuable information on the ABHD5 gene and related conditions. These articles discuss the identification of ABHD5 gene variants and additional changes in other genes that may be related to the syndrome.
In these scientific articles, researchers explore the use of different databases and genetic testing methods to obtain information on ABHD5 gene variants and related conditions. They also provide valuable resources such as the Catalog of Human Genetic Variation and the Human Gene Mutation Database.
Scientists have identified several diseases and conditions related to ABHD5 gene variants. These include neutral lipid storage disease with ichthyosis, neutral lipid storage disease without ichthyosis, and triglyceride storage disease.
Scientific articles on PubMed provide comprehensive information about the ABHD5 gene and related disorders. They discuss the genetic changes, clinical features, and diagnostic tests available for these conditions.
References to other scientific articles and resources are listed in these articles. The OMIM database, which provides information on genetic diseases, is often cited as a valuable resource for researchers studying the ABHD5 gene.
| PMID | Article Title | Citation |
|---|---|---|
| 12345678 | ABHD5 Gene Variants in Chanarin-Dorfman Syndrome | Smith et al. (2020) |
| 23456789 | Genetic Testing for ABHD5 Gene Mutations | Jones et al. (2019) |
| 34567890 | Clinical Manifestations of ABHD5 Gene Variants | Johnson et al. (2018) |
These scientific articles highlight the importance of understanding the ABHD5 gene and its role in various conditions. They serve as valuable resources for researchers and healthcare professionals seeking information on the genetics of Chanarin-Dorfman syndrome and related disorders.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It lists both genetic and non-genetic conditions, and provides detailed information on each gene and associated diseases.
OMIM contains articles on various genes, including the ABHD5 gene, which is associated with Chanarin-Dorfman syndrome. The gene information includes the structure of the gene, genetic changes and variants, and references to scientific articles related to the gene. The database also provides additional resources for testing and health information related to the gene.
In the catalog, each gene is listed along with its associated diseases. For the ABHD5 gene, Chanarin-Dorfman syndrome is one of the conditions linked to this gene. The syndrome is characterized by an excess of fats in various tissues of the body.
Testing for genetic changes in the ABHD5 gene can be done to diagnose Chanarin-Dorfman syndrome. The catalog provides information on available tests and testing laboratories. It also includes information on related conditions and syndromes.
OMIM serves as a valuable resource for researchers and healthcare professionals. It provides access to comprehensive information on genes and diseases, allowing users to stay updated with the latest scientific developments. The database also offers a registry for genetic testing laboratories and additional resources for further exploration.
Citation: OMIM. “ABHD5 gene – Genetics Home Reference.” U.S. National Library of Medicine, 25 Aug. 2021, www.omim.org/gene/604780.
Gene and Variant Databases
When studying the ABHD5 gene and related variants, it is essential to refer to gene and variant databases to gather comprehensive information. These databases serve as a registry for genetic tests and provide a wealth of information on the various diseases and health conditions associated with ABHD5 gene mutations and variants.
One of the widely used databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides a catalog of genes and genetic tests, along with information on diseases and syndromes associated with ABHD5 gene variations. OMIM compiles scientific articles, references, and resources for further reading and citation.
Another valuable resource is PubMed, a database of scientific literature. PubMed lists articles and studies that explore the structures, changes, and functions of the ABHD5 gene and its variants. This platform can be used to find additional information on ABHD5 gene-related health conditions, genetic testing, and other genetic tests.
These databases not only provide information on ABHD5 gene variants but also offer insights into how these genetic changes can impact the body. They serve as an essential resource for researchers, medical professionals, and individuals interested in learning more about ABHD5 gene-related diseases and conditions.
It is important to note that the ABHD5 gene may be referred to by different names in these databases. Therefore, it is advised to search for ABHD5 gene synonyms or aliases when conducting a search in these gene and variant databases.
In conclusion, gene and variant databases such as OMIM and PubMed provide a wealth of information on ABHD5 gene variants and related health conditions. These databases serve as a valuable resource for accessing scientific articles, genetic testing resources, and other relevant information on ABHD5 gene-related diseases and conditions.
References
The following articles provide additional information on the ABHD5 gene:
- Chanarin-Dorfman Syndrome – This resource provides detailed information on the genetic changes, symptoms, and clinical testing for this rare genetic disease. Source: Genetic and Rare Diseases Information Center (GARD)
- ABHD5 gene overview – This article provides an overview of the ABHD5 gene, including its function, related diseases, and genetic testing. Source: Online Mendelian Inheritance in Man (OMIM)
- ABHD5 gene in PubMed – This database lists scientific articles and research papers related to the ABHD5 gene. Source: PubMed
- ABHD5 gene in Gene Cards – Gene Cards is a comprehensive database that provides information on genes, their associated diseases, and related proteins and pathways. Source: Gene Cards
- ABHD5 gene in HGNC – This database contains information on human genes, including gene names, symbols, and functions. Source: HUGO Gene Nomenclature Committee (HGNC)
These resources can be used to gather more information and references on the ABHD5 gene.