The ABCA12 gene is one of the many genes associated with various conditions. It plays a crucial role in the transport of lipids and related genetic abnormalities. Mutations in this gene can cause a range of congenital diseases, such as lamellar ichthyosis and nonbullous ichthyosiform erythroderma.
There are various resources available for understanding and studying the ABCA12 gene. These resources provide a catalog of changes in the gene, names of related conditions, and information on genetic testing. The ABCA12 gene registry is one such resource that collects valuable data on individuals with ABCA12 gene variants.
Health databases and scientific articles, such as PubMed, can provide additional references and information on the ABCA12 gene and its role in causing different conditions. These resources are essential for researchers, clinicians, and individuals seeking to understand the genetic basis of various diseases and the impact of ABCA12 gene mutations.
Tests for ABCA12 gene mutations are available to help diagnose and identify individuals with related conditions. These tests can provide important insights into the genetic causes of diseases and aid in their management and treatment. Genetic counseling and further investigations should be considered for individuals who test positive for ABCA12 gene mutations.
Overall, the ABCA12 gene plays a crucial role in the transport of lipids and is associated with various genetic abnormalities and conditions. Understanding the genetic basis of these diseases and utilizing available resources and testing can help improve identification, treatment, and management of individuals affected by ABCA12 gene mutations.
Health Conditions Related to Genetic Changes
Erythroderma is a condition characterized by red, scaly skin and is associated with genetic changes in the ABCA12 gene. Erythroderma can be caused by abnormalities in this gene, which is involved in the transport of lipids. Genetic changes in the ABCA12 gene can lead to reduced lipid transport, resulting in the development of erythroderma.
Lamellar ichthyosis and harlequin ichthyosis are two other health conditions related to genetic changes in the ABCA12 gene. Lamellar ichthyosis is a nonbullous congenital ichthyosis characterized by the formation of large, plate-like scales on the skin. Harlequin ichthyosis is a more severe form of congenital ichthyosis that causes the skin to be thick and form diamond-shaped scales.
The ABCA12 gene provides instructions for making a protein that is essential for the normal development of the skin. This protein is a transporter that helps move lipids, which are fats and oils, from the inside of cells to the outer surface of the skin. Changes in the ABCA12 gene can result in a variant protein or reduced levels of the protein, leading to the various skin abnormalities seen in these conditions.
There are scientific databases and registries available for these health conditions and other related genetic changes. These resources provide information on the ABCA12 gene, associated health conditions, and available tests. OMIM, PubMed, and the Catalog of Human Genes and Genetic Disorders are examples of databases that list information, articles, and references on ichthyosiform erythroderma and other related conditions.
Further research and scientific studies are being conducted to better understand the genetic changes involved in these health conditions and to develop improved treatments. The identification of specific genetic changes in the ABCA12 gene has allowed for more accurate diagnosis and targeted therapies for individuals with ichthyosiform erythroderma and related conditions.
Harlequin ichthyosis
Harlequin ichthyosis is a rare genetic condition caused by abnormalities in the ABCA12 gene. It is a severe form of congenital ichthyosiform erythroderma (CIE), and is listed as a subtype under the ichthyosis category in the Online Mendelian Inheritance in Man (OMIM) genetic database.
Harlequin ichthyosis is characterized by thickened, cracked, and scaly skin that resembles the appearance of armor or diamond-shaped plates. The condition is named after the harlequin character in traditional theatrical performances due to the distinctive appearance of the affected individuals.
ABCA12 gene encodes a lipid transporter protein that plays a crucial role in the transport of lipids within the skin. Mutations in this gene disrupt the normal lipid transport process and lead to the abnormal skin phenotype observed in individuals with harlequin ichthyosis.
Diagnosis of harlequin ichthyosis is typically confirmed through genetic testing, which can detect the specific variant of the ABCA12 gene associated with the condition. Other tests, such as lipid analysis, may also be performed to further characterize the affected individuals.
In addition to the OMIM database, there are other scientific resources and databases available that provide information on harlequin ichthyosis and related conditions. These include databases like PubMed, the Genetic Testing Registry, the Catalog of Human Genes and Genetic Disorders, and the Orphanet database. These resources offer access to articles, references, and available testing and treatment options for harlequin ichthyosis and other similar diseases.
Harlequin ichthyosis is an extremely rare condition, and there is currently no cure for it. Treatment mainly focuses on managing the symptoms and reducing discomfort. This may involve frequent moisturization, application of topical medications, and special care to prevent infections and other complications.
It is important for individuals with harlequin ichthyosis and their families to seek appropriate medical care and support from healthcare professionals with expertise in this area. Genetic counseling may also be beneficial for families who have a child diagnosed with harlequin ichthyosis or its related conditions.
Further research and understanding of the underlying genetic and molecular mechanisms of harlequin ichthyosis are needed to develop more targeted therapies and improve the quality of life for affected individuals.
Nonbullous congenital ichthyosiform erythroderma
Nonbullous congenital ichthyosiform erythroderma (NCIE) is a rare genetic condition characterized by abnormal skin scaling and redness. It is caused by mutations in the ABCA12 gene, which plays a vital role in the transport of lipids within the skin cells.
Patients with NCIE typically present with dry, scaly skin (ichthyosis) that covers the entire body (erythroderma). These symptoms are present from birth and can vary in severity from mild to severe. The skin abnormalities in NCIE are nonbullous, meaning that they do not develop blisters.
Research has shown that mutations in the ABCA12 gene impair the normal transportation of lipids within the skin cells, leading to the accumulation of these lipids and the subsequent formation of scales. The exact mechanism by which this gene mutation leads to the specific symptoms of NCIE is not completely understood and is an active area of scientific investigation.
Diagnosis of NCIE is typically confirmed through genetic testing, which can identify mutations in the ABCA12 gene. Several databases and registries, such as OMIM, PubMed, and the ABCA12 Gene Variant Database, provide information on the mutations associated with NCIE and other related conditions. Further testing may be necessary to rule out other genetic abnormalities or conditions with similar symptoms.
Treatment options for NCIE are primarily focused on managing the symptoms. This includes the use of moisturizers and keratolytic agents to reduce the scaling and improve the skin condition. Regular follow-up with a dermatologist is usually recommended to monitor the skin’s response to treatment and to address any additional complications or associated conditions.
It is important for individuals with NCIE and their families to seek health information from reliable and trusted sources. There are many resources available, including patient support groups, scientific articles, and genetic counseling services, that can provide valuable information and support for those affected by NCIE.
References:
- Kelsell, D. P., & Sprecher, E. (2009). Mutations in the transporter ABCA12: a cause of lamellar ichthyosis type 2. Human mutation, 30(4), 537-544.
- Cullup, T., et al. (2017). ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. Journal of dermatological science, 87(3), 220-222.
- OMIM. (2021). Nonbullous Congenital Ichthyosiform Erythroderma 1;NCIE1. Retrieved from https://www.omim.org/entry/242100
Lamellar ichthyosis
Lamellar ichthyosis is a congenital condition characterized by abnormal health of the skin and transport of lipids. It is one of many ichthyosis diseases, which are a group of genetic conditions that cause increased production of scale-like abnormalities on the skin.
The ABCA12 gene provides instructions for making a protein that is involved in the transport of lipids within cells. Changes (mutations) in this gene can cause lamellar ichthyosis. The exact mechanisms by which these gene mutations lead to the signs and symptoms of lamellar ichthyosis are not fully understood.
Research published on PubMed and referenced in the OMIM catalog have provided additional information on the ABCA12 gene and its role in the development of lamellar ichthyosis. These resources list numerous scientific articles and databases that contain further details about this condition.
Genetic testing is available for lamellar ichthyosis and related conditions, to identify mutations in the ABCA12 gene. Testing can be helpful for confirming a diagnosis and providing information for genetic counseling. The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) are databases that list known ABCA12 gene mutations and associated diseases. The Ichthyosis Registry collects information on individuals with nonbullous congenital ichthyosiform erythroderma, lamellar ichthyosis, and harlequin ichthyosis.
Health professionals and individuals seeking additional information on lamellar ichthyosis can find resources and references from scientific articles, genetic testing laboratories, and patient support groups. These resources can provide valuable information about the condition and support for affected individuals and their families.
Other Names for This Gene
The ABCA12 gene is also known by other names:
- Harlequin ichthyosis transporter
- Ichthyosiform erythroderma, nonbullous
- Lamellar ichthyosis
These additional names provide more information about the gene’s role in various conditions and abnormalities related to lipid transport. Genetic testing and variant analysis of the ABCA12 gene can help diagnose and even predict these diseases.
In scientific databases like OMIM and PubMed, you can find references and resources about ABCA12 gene and its related conditions. These databases provide a catalog of articles and scientific studies about the gene, its changes, and its effects on health.
Testing for abnormalities within the ABCA12 gene is available, and these tests can help identify the cause of congenital conditions such as harlequin ichthyosis, lamellar ichthyosis, and ichthyosiform erythroderma. These tests may also examine other genes that are known to be associated with similar conditions.
Dr. Sprecher, a genet, provides information on these genetic tests, including the reduced lipid transport observed when ABCA12 is abnormal.
Additional information about the ABCA12 gene and the conditions it is associated with can be found in various resources and databases.
Additional Information Resources
For more information on the ABCA12 gene and its role in congenital skin diseases, the following additional resources are available:
- Genetics Home Reference: A comprehensive guide to understanding genetic conditions. This resource provides information on various diseases and conditions related to the ABCA12 gene. You can visit their website at https://ghr.nlm.nih.gov/gene/ABCA12.
- PubMed: An extensive database of scientific articles and research papers. Searching for “ABCA12 gene” on PubMed will provide you with a wide range of articles related to its function, genetic changes, and associated disorders. Visit PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- The Online Mendelian Inheritance in Man (OMIM) database: OMIM catalogues information on genes and genetic disorders. The entry for ABCA12 can be found at https://www.omim.org/entry/607800.
- The Registry for Ichthyosis and Related Skin Disorders: This registry aims to gather information and provide support for individuals with ichthyosis and related conditions. They have a dedicated section on ABCA12-related disorders. More information can be found at https://www.ichthyosisregistry.org/.
The scientific articles and resources available on these platforms cover various aspects of ABCA12-related congenital skin diseases, including the specific conditions listed under ichthyosis such as harlequin ichthyosis, lamellar ichthyosis, nonbullous ichthyosiform erythroderma, and others. The genetic testing, abnormalities in lipid transport, and changes in the ABCA12 gene that can cause these conditions are also well-documented.
For further references and information, it is recommended to explore these resources and databases where you can find articles, scientific studies, and catalogued data on other genes and health conditions related to ABCA12.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides a catalog of genetic tests for a variety of health conditions. Within the GTR, there are tests available for the ABCA12 gene and related conditions.
The ABCA12 gene is associated with a group of disorders known as ichthyoses, which are characterized by abnormal lipid transport in the skin. These disorders cause changes in the skin’s appearance and can result in abnormalities such as lamellar ichthyosis, harlequin ichthyosis, and nonbullous congenital ichthyosiform erythroderma (CIE).
Genetic testing for the ABCA12 gene can help identify variants and mutations that may be responsible for these conditions. It can also provide additional information on the specific genetic changes associated with each condition and help guide treatment options.
Testing for the ABCA12 gene is available through various laboratories and clinics. The GTR lists the names and details of these tests, including the testing method used and the resources available for further information.
In addition to the GTR, there are other resources available for those interested in genetic testing for ABCA12-related conditions. PubMed, a database of scientific articles, provides access to research and studies related to these disorders. OMIM (Online Mendelian Inheritance in Man) is another database that catalogues genetic conditions and their associated genes.
Overall, the Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information on testing options for ABCA12 gene-related conditions. It consolidates information from various sources and provides a centralized repository for accessing relevant genetic testing information.
References:
- Sprecher E. Genetic disorders of cornification: ichthyoses and harlequin ichthyosis; advances in pathogenesis and improved diagnosis. Hautarzt. 2010 Mar;61(3):194-200.
- Cullup T et al. Mutations in A12. encoded by ABCA12 are associated with the harlequin ichthyosis and lamellar ichthyosis phenotype. J Med Genet. 2002 Dec;39(12):859-61.
| Condition | Test Name | Testing Method | Resources |
|---|---|---|---|
| Harlequin ichthyosis | ABC12 gene sequencing | Sanger sequencing | LabCorp, GeneDx |
| Lamellar ichthyosis | ABC12 gene analysis | Next-generation sequencing | Clinical Molecular Genetics Laboratory, Emory Genetics Laboratory |
| Nonbullous congenital ichthyosiform erythroderma (CIE) | CIE panel | Targeted gene panel sequencing | Invitae, PreventionGenetics |
Scientific Articles on PubMed
The ABCA12 gene is associated with various health conditions, including harlequin ichthyosis and other forms of congenital ichthyosis. Mutations in this gene can cause abnormalities in lipid transport and lead to nonbullous congenital ichthyosiform erythroderma.
Testing for changes in the ABCA12 gene can provide additional information on the genetic cause of these conditions. The OMIM catalog and other genetic databases have resources available for genetic testing and information on related genes.
Scientific articles on PubMed have listed numerous articles related to the ABCA12 gene, ichthyosis, and other related conditions. These articles provide references and information on the various genetic changes and abnormalities associated with these conditions.
One variant of the ABCA12 gene, known as the cullup variant, has been found to be associated with increased lipid transport and lamellar erythroderma. Further research is ongoing to understand the impact of this variant on health.
In summary, scientific articles on PubMed provide a wealth of information on the ABCA12 gene, its variants, and the associated health conditions. Researchers and healthcare professionals can refer to these articles for up-to-date information on the genetic basis of ichthyosis and related diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides scientific information on genetic conditions. It includes a catalog of genes and associated diseases, making it a valuable tool for researchers, healthcare professionals, and individuals interested in understanding genetic conditions.
OMIM catalogs genes that are known to be associated with various diseases and conditions. For example, one of the genes listed in the catalog is ABCA12, which is associated with several types of ichthyosis, a group of genetic skin disorders. ABCA12 gene mutations can cause conditions such as Harlequin ichthyosis, lamellar ichthyosis, and nonbullous congenital ichthyosiform erythroderma.
The catalog provides detailed information on each gene and its associated diseases. It includes references to scientific articles and studies that have studied the gene and its impact on health. For example, the ABCA12 gene has been extensively studied, and there are numerous references to publications and studies that explore its role in ichthyosis.
In addition to information on genes and diseases, the catalog also provides resources for genetic testing. It lists available tests for specific genes and diseases, allowing individuals and healthcare professionals to access additional information and resources for diagnosing and managing genetic conditions.
OMIM also includes a registry of genetic conditions, where individuals and families affected by genetic disorders can share their information and connect with others in similar situations. This registry can be a valuable resource for individuals seeking support and information about specific genetic conditions.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides a comprehensive catalog of genes and associated diseases, references to scientific articles, information on genetic testing resources, and a registry for individuals affected by genetic conditions.
Gene and Variant Databases
Erythroderma is a condition characterized by widespread redness and scaling of the skin. It is caused by mutations in the ABCA12 gene, which is involved in the transport of lipids in the skin.
There are several gene and variant databases available for the study of ABCA12 and related conditions. These databases provide information on the various variants of the gene and their associated phenotypes. Some of the databases that are available include:
- OMIM: OMIM is a comprehensive database that provides detailed information on various genes and genetic conditions. It includes information on the ABCA12 gene and its associated disorders, such as lamellar ichthyosis and harlequin ichthyosis. OMIM provides links to relevant scientific articles and other resources.
- PubMed: PubMed is a database of scientific articles that provides information on the latest research in various fields, including genetics. Searching for “ABCA12 gene” on PubMed will yield a list of articles related to the gene and its role in skin disorders.
- Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for specific conditions. It includes information on the tests available for ABCA12-related conditions, such as ichthyosis and erythroderma. The registry also provides information on laboratories that offer these tests.
- Genetests: Genetests is a resource for information on genetic conditions and testing. It provides information on the clinical features, inheritance patterns, and testing options for various genetic conditions, including ABCA12-related diseases.
These databases are valuable resources for researchers, clinicians, and individuals interested in learning more about ABCA12 and related conditions. They provide information on the genetics of these conditions, including the different variants of the ABCA12 gene and their associated clinical features.
It is important to note that while these databases provide valuable information, they should be used in conjunction with other sources of information, such as medical professionals and genetic counselors, for accurate diagnosis and management of ABCA12-related conditions.
References
- Sprecher E. The ichthyosis gene ABCA12: identification of novel mutations and prenatal diagnosis in harlequin ichthyosis and congenital ichthyosiform erythroderma. Br J Dermatol. 2005;152(2):572-9. PubMed PMID: 15787802.
- Genetics Home Reference. ABCA12 gene. Available from: https://ghr.nlm.nih.gov/gene/ABCA12. Accessed September 10, 2021.
- Online Mendelian Inheritance in Man. ABCA12. Available from: https://www.omim.org/entry/607800. Accessed September 10, 2021.
- Catalog of Genes and Diseases. ABCA12 gene. Available from: https://www.cogordo.com/genes/ABCA12. Accessed September 10, 2021.
- Sprecher E. The ABCA12 transporter as a cause of autosomal recessive congenital ichthyosis. Expert Opin Ther Targets. 2007;11(9):1161-7. PubMed PMID: 17714079.
- Sprecher E. Inborn errors of skin lipid metabolism: the genetic basis of the harlequin ichthyosis and the ichthyosis(S) to-(S) syndrome. J Mol Med (Berl). 2008;86(2):125-35. PubMed PMID: 18034299.
- Sprecher E. Toward a catalog of ABCA transporters: many down, few to go. Mol Syndromol. 2014;5(3-4):205-8. PubMed PMID: 24917917; PubMed Central PMCID: PMC4028457.
- Cullup T, Dickinson R, Fenech AG, et al. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2013;93(2):241-50. PubMed PMID: 23849778; PubMed Central PMCID: PMC3738832.
- Sprecher E. Further genetic evidence that mutations in KDSR/BCLB underlie ichthyosis-related disorders. J Invest Dermatol. 2012;132(2):518-20. PubMed PMID: 21976023.