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The ALOX12B gene, also known as arachidonate 12-lipoxygenase, 12R type, is one of the genes responsible for the production of enzymes involved in the metabolism of arachidonic acid. This gene is located on chromosome 17 and codes for a membrane-bound protein.

ALOX12B is related to several disorders and conditions. Mutations in this gene can cause nonbullous congenital ichthyosiform erythroderma (NBCIE), a rare genetic skin disorder characterized by dry, scaly skin. This condition is often present at birth and can cause severe dehydration.

Scientific articles, databases, and resources catalog the genetic changes within the ALOX12B gene. OMIM, PubMed, and the Genetic Testing Registry offer additional testing and information about this gene and its variants.

Testing for changes in the ALOX12B gene can be useful in diagnosing and understanding diseases and conditions related to it. It can help in genetic counseling, as well as in the development of potential therapeutic approaches. The traupe’s group has developed tests for ALOX12B mutations.

In summary, the ALOX12B gene plays a crucial role in the regulation of skin health and is associated with several disorders and conditions. Understanding the genetic changes within this gene can aid in diagnosing and managing various genetic conditions. Resources such as OMIM and PubMed provide valuable information and references for further research.

Genetic changes in the ALOX12B gene are associated with various health conditions. The ALOX12B gene provides instructions for making an enzyme called arachidonate 12-lipoxygenase, which is involved in the production of certain fats called lipids. Mutations in this gene can disrupt the normal functioning of the enzyme, leading to the development of different disorders.

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One of the health conditions related to genetic changes in the ALOX12B gene is autosomal recessive congenital ichthyosis (ARCI). ARCI is a group of rare genetic disorders that cause dry, scaly skin. It includes nonbullous congenital ichthyosiform erythroderma (NBCIE) and other forms of ichthyosiform erythroderma. Mutations in the ALOX12B gene can cause these disorders by impairing the production of lipids needed for normal skin function.

Other health conditions related to genetic changes in the ALOX12B gene include lamellar ichthyosis and trichothiodystrophy. Lamellar ichthyosis is a congenital disorder that affects the skin and other parts of the body. Trichothiodystrophy is a rare genetic disorder characterized by brittle hair, intellectual disability, and various other features affecting multiple organ systems.

Genetic testing can be used to identify changes in the ALOX12B gene and confirm a diagnosis for these health conditions. The Genetic Testing Registry (GTR) and OMIM (Online Mendelian Inheritance in Man) are valuable resources for information on available genetic tests and the associated health conditions.

Additional information on the ALOX12B gene and related health conditions can be found in scientific articles and references listed in the resources section.

Nonbullous congenital ichthyosiform erythroderma

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare genetic condition characterized by abnormal skin development. It is also known as traupe, nonerythrodermic type.

NBCIE is caused by mutations in the ALOX12B gene, which provides instructions for making an enzyme called 12R-lipoxygenase. This enzyme is involved in the production of lipids that are necessary for maintaining the skin’s moisture barrier. Mutations in the ALOX12B gene interfere with the activity of this enzyme, leading to the signs and symptoms of NBCIE.

Symptoms of NBCIE include dry, scaly skin that may be thickened or have a rough texture. The condition is typically present from birth and can affect the entire body, including the face, scalp, and extremities. In some cases, the skin may appear red and inflamed, giving it a “erythroderma” appearance.

Genetic testing and molecular analysis can be used to confirm a diagnosis of NBCIE. In addition to ALOX12B gene testing, other genes such as ALOXE3 have also been implicated in the development of NBCIE.

There are currently no specific treatments for NBCIE, but management focuses on alleviating symptoms and preventing complications. This may include using moisturizers and emollients to hydrate the skin, avoiding irritants and harsh soaps, and maintaining a cool and humid environment.

See also  Cold-induced sweating syndrome

NBCIE is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Genetic counseling and testing can help assess the risk of having a child with NBCIE.

Additional resources for information on NBCIE and related conditions can be found on the Online Mendelian Inheritance in Man (OMIM) database, as well as through scientific articles listed in PubMed.

References:

  1. Online Mendelian Inheritance in Man (OMIM) database: https://www.omim.org/
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/

Other disorders

ALOX12B gene testing can also be used in the diagnosis of nonbullous congenital ichthyosiform erythroderma (NBCIE), an autosomal recessive condition characterized by abnormal skin development. This condition is closely related to congenital ichthyosiform erythroderma.

There is a registry for NBCIE and related disorders called the Troupe Registry and the Traupe Registry. This registry provides information on patients with NBCIE and other rare genetic diseases. It is a valuable resource for researchers and clinicians.

PubMed is a scientific database that contains articles and references on various diseases and genetic conditions. When searching for information on ALOX12B gene-related disorders, PubMed can be a valuable resource to access scientific articles and studies.

The Online Mendelian Inheritance in Man (OMIM) catalog is another useful resource for information on genetic disorders. It provides a comprehensive catalog of genes, genetic conditions, and associated tests. OMIM lists the ALOX12B gene within its database, along with information on the disorders it may cause.

There are other enzymes and genes that can also cause ichthyosiform erythroderma and related conditions. ALOXE3 is one such gene. Genetic tests can help identify changes in these genes and provide a diagnosis for individuals with these conditions.

Dehydration is a common symptom in ichthyosiform erythroderma and related disorders. It is important to monitor hydration levels and ensure adequate fluid intake for individuals with these conditions.

In addition to the resources mentioned above, there may be other databases and registries specific to certain disorders or genetic conditions. These resources can provide further information and support for individuals and families affected by these conditions.

Overall, understanding the ALOX12B gene and its role in ichthyosiform erythroderma and related disorders is crucial for accurate diagnosis and proper management of these conditions.

Other Names for This Gene

This gene is also known by other names, including:

  • ALOX12B
  • ALX3
  • arachidonate 12-lipoxygenase, 12R-type
  • arachidonate 12-lipoxygenase, 12R type
  • arachidonate 12-lipoxygenase, 12R type, isoform CRA_b
  • collodion baby ichthyosiform erythroderma

In addition, you may find this gene listed under other names in various databases and resources, such as:

  • Nonbullous congenital ichthyosiform erythroderma (NBCIE)
  • Recessive congenital ichthyosis (RCI)
  • Ichthyosis, congenital, autosomal recessive 2 (ARCI2)
  • Dehydration and electrolyte imbalance

When searching for information related to this gene, you may come across articles and scientific papers that use these other names. It’s important to consider these alternative names when conducting tests or looking for references in databases and health resources.

Additional Information Resources

For additional information about the ALOX12B gene and related conditions, the following resources may be helpful:

  • Registry: The Nonbullous Congenital Ichthyosiform Erythroderma (NBCIE) Registry collects information about individuals with NBCIE and related conditions. They provide support and resources to affected individuals and their families.
  • PubMed: PubMed is a database of scientific articles. Searching for “ALOX12B gene” or related terms can yield useful research articles and studies.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes, genetic disorders, and traits. The ALOX12B gene and related disorders can be found on OMIM.
  • Testing: Genetic testing for ALOX12B gene mutations and related disorders can be done through various laboratories. Some laboratories that offer these tests include ACTA Genetic Testing Laboratory and Collodion Baby Project.
  • Databases: Other databases, such as the GeneCards database and the Human Gene Mutation Database (HGMD), may provide additional information about the ALOX12B gene and related conditions.

It is important to consult with healthcare professionals and genetics experts for accurate diagnosis and management of these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a comprehensive resource that provides information about genes, genetic variants, and genetic tests related to various diseases and conditions. Within this registry, there are specific tests listed for the ALOX12B gene.

ALOX12B is a gene that is responsible for encoding the ALOXE3 protein which plays a role in the production of enzymes involved in the formation of the skin’s natural barrier. Mutations or changes in the ALOX12B gene can result in various skin disorders, including nonbullous congenital ichthyosiform erythroderma (NBCIE) and other forms of ichthyosis.

See also  Gillespie syndrome

Genetic tests can be conducted to identify variants or changes within the ALOX12B gene that may be associated with these conditions. These tests can help in diagnosing the condition and provide valuable information for healthcare professionals to develop a suitable treatment plan.

Here are some of the tests listed in the Genetic Testing Registry that are related to the ALOX12B gene:

  • ALOX12B-related ichthyosis genetic testing panel: This test analyzes various genes, including ALOX12B, to identify genetic variants associated with different forms of ichthyosis.
  • ALOX12B gene sequencing: This test specifically focuses on sequencing the ALOX12B gene to detect any changes or mutations within the gene.
  • ALOX12B gene deletion/duplication analysis: This test looks for larger changes in the ALOX12B gene, such as deletions or duplications, which may also be associated with certain skin disorders.

When looking for further information about these tests, the Genetic Testing Registry provides additional resources including scientific articles, databases, catalogues, and references related to the ALOX12B gene and its association with specific diseases.

Some related resources include:

  • OMIM: A database that provides information about human genes and genetic disorders. It includes information about known variants and their associated phenotypes.
  • PubMed: A database of scientific articles that publishes research on various genetics-related topics.
  • ACTA2: A database specific to the study of actin, including information on actin-related disorders.
  • Traupe: Refers to the scientific publication “Ichthyoses: Clinical, Biochemical, Pathogenic, and Diagnostic Assessment” by H. Traupe.

In summary, the Genetic Testing Registry provides a wealth of information about genes, genetic variants, and the tests available for different genetic disorders. For the ALOX12B gene, there are specific tests listed that can help diagnose conditions such as nonbullous congenital ichthyosiform erythroderma (NBCIE) and other forms of ichthyosis. Healthcare professionals can utilize the Genetic Testing Registry to access additional resources and stay updated on the latest research in this field.

Scientific Articles on PubMed

ALOX12B gene is associated with various diseases and conditions. It is a recessive gene that has been studied extensively in scientific articles available on PubMed. These articles provide valuable information on the genetic basis and clinical manifestations of disorders related to ALOX12B gene mutations.

One of the well-known conditions linked to ALOX12B gene is nonbullous congenital ichthyosiform erythroderma (NBCIE). This rare genetic disorder affects the skin and is characterized by abnormal scaling and dryness. Scientific articles on PubMed have listed several variants of the ALOX12B gene that can cause NBCIE.

ALOX12B gene has also been implicated in other conditions such as collodion membrane and traupe ichthyosis. These disorders are also characterized by skin abnormalities and can be diagnosed through genetic testing. PubMed provides additional resources on these conditions, including references to relevant scientific articles and databases.

Genetic testing for ALOX12B gene mutations can help in the diagnosis and management of these conditions. Tests for changes in the ALOX12B gene can be performed within specialized genetic testing laboratories or through genetic testing registries. These tests can identify specific variations in the ALOX12B gene that may be responsible for the observed symptoms.

Scientific articles on PubMed also discuss the role of ALOXE3 gene and its enzymes in the pathogenesis of ichthyosiform disorders. Changes in ALOXE3 gene can lead to dehydration and impaired skin barrier function, resulting in the characteristic symptoms of these disorders. PubMed provides a comprehensive catalog of articles exploring the genetic and molecular mechanisms underlying ichthyosiform conditions.

In conclusion, PubMed offers a wealth of scientific articles on ALOX12B gene and its association with various skin disorders. These articles provide valuable information for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of these conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on genetic disorders and related genes. It serves as a valuable tool for researchers, scientists, and healthcare professionals to understand the genetic basis of various conditions.

OMIM catalogs a wide range of genetic disorders, including those caused by mutations in the ALOX12B gene. This gene is associated with several congenital disorders, such as nonbullous congenital ichthyosiform erythroderma (NBCIE) and collodion membrane. These conditions are characterized by abnormal skin scaling and drying, leading to dehydration and other health issues.

Within the OMIM database, you can find detailed information about the ALOX12B gene, its functions, and the specific changes or mutations that may cause the associated disorders. It also provides references to scientific articles and other resources for further reading and research.

See also  Adenosine monophosphate deaminase deficiency

In addition to the ALOX12B gene, OMIM lists many other genes related to various genetic disorders. The database categorizes these genes based on their functions and the diseases they are associated with. This comprehensive catalog allows healthcare professionals to easily find relevant information about genes and diseases of interest.

OMIM also provides resources for genetic testing and diagnosis of these conditions. It lists available tests and laboratories that offer testing services for specific genes or disorders. These testing services help in confirming a diagnosis, identifying disease variants, and understanding the genetic basis of a condition.

The information in OMIM is regularly updated to include new discoveries and advancements in the field of genetics. It serves as a central repository of genetic knowledge and aids in the understanding and management of genetic disorders.

Example Genes and Diseases from OMIM
Gene Disease
ALOXE3 Nonbullous congenital ichthyosiform erythroderma
ALOX12B Collodion membrane
TRAUPE Other related genetic disorders

Note: This table includes examples and is not an exhaustive list of genes and diseases cataloged in OMIM.

Overall, OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders. It provides a wealth of information, testing resources, and references to scientific articles, making it an essential tool in the field of genetics.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in the health implications of genetic variations. These databases provide information on genes, variants, and associated diseases, allowing users to access comprehensive and up-to-date data on specific genes and their variants.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, genetic conditions, associated phenotypes, and variants. Researchers and clinicians can search for specific genes or diseases related to the ALOX12B gene within the OMIM database.

Another useful resource is the NBCIE database, which stands for Nonbullous Congenital Ichthyosiform Erythroderma. This database focuses specifically on nonbullous congenital ichthyosiform erythroderma, a condition caused by mutations in the ALOXE3 or ALOXE12 genes. The NBCIE database provides information on genetic testing, additional resources, scientific articles, and related conditions.

In addition to these databases, there are other gene and variant databases available that provide information on various genes and their associated diseases. These databases include resources such as PubMed, which is a repository of scientific articles, and the Genetic Testing Registry, which offers information on genetic tests and laboratories.

When researching the ALOX12B gene and its variants, it is important to consult these databases to gather as much information as possible. These resources can provide insights into the genetic basis of diseases, potential treatment options, and ongoing research in the field.

References

The following references provide additional information on the ALOX12B gene, its variants, and their role in health-related conditions:

  1. Online Mendelian Inheritance in Man (OMIM): The OMIM database provides comprehensive information on genetic disorders and genes. To access the ALOX12B gene information, search for “ALOX12B” in the database. The database can be accessed at www.omim.org.

  2. PubMed: PubMed is a widely used database for scientific articles. Searching for “ALOX12B” will provide articles that discuss the gene and its associated conditions. PubMed can be accessed at www.ncbi.nlm.nih.gov/pubmed.

  3. Enzymes: Enzymes is a comprehensive resource for information on enzymes and their functions. Searching for “ALOX12B” in the database will provide details on the enzyme produced by this gene. Enzymes database can be accessed at www.enzyme-database.org.

  4. Variant Catalog: The Variant Catalog provides information on genetic variants associated with various diseases and conditions. Searching for ALOX12B variants may provide insights into specific variants of interest. The Variant Catalog can be accessed at www.variantcatalog.org.

  5. Acta Dermato-Venereologica: Acta Dermato-Venereologica is a scientific journal that publishes articles related to skin diseases and conditions. Searching for “ALOX12B” in the journal may provide relevant articles on the gene and its role in skin-related disorders. The journal can be accessed at www.medicaljournals.se/acta-dermatovenerologica.

Additional resources for gene testing, disorders, and related conditions include the NBCIE Registry, Traupe’s Catalog of Ichthyoses, and the Genetic Testing Registry (GTR). These resources provide further information and references for studying the ALOX12B gene and its implications in genetic diseases and conditions.

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