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The ALOXE3 gene, also known as the arachidonate lipoxygenase 3 gene, is a genetic component that plays a role in the formation of lipids and their derivatives. This gene is associated with several health conditions, including nonbullous congenital ichthyosiform erythroderma, a group of genetic diseases characterized by dry, scaly skin.

Testing for mutations in the ALOXE3 gene can be done to confirm a diagnosis of these conditions. Scientific articles and studies related to this gene can be found in databases such as OMIM and PubMed, which provide valuable information for further analysis and research.

References and resources listed on the ALOXE3 gene in the OMIM database include articles on the genetic basis of the disease, enzyme analysis, and genetics of dehydration in congenital ichthyosiform erythroderma. Additional information can be found in the Genetic Testing Registry.

The ALOXE3 gene is just one of many genes involved in the formation of lipids and their derivatives. Other genes, such as ALOX12B and ALOX15B, also play a role in these processes. The analysis of these genes can provide a comprehensive understanding of the genetic basis of congenital ichthyosiform erythroderma and other related diseases.

Erythroderma with ichthyosiform dehydration and traupe-like nonbullous congenital erythroderma are two of the health conditions related to genetic changes in the ALOXE3 gene. These conditions are listed in various resources, including the OMIM database and registry. They are inherited in an autosomal recessive manner.

Genetic changes in the ALOXE3 gene can result in the formation of variant enzymes, leading to the development of these diseases. Additional information on the genetic changes and associated health conditions can be found in scientific articles listed in PubMed and other related databases.

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Enzyme testing can be used to confirm the presence of genetic changes in the ALOXE3 gene. This analysis provides valuable information for diagnosis and monitoring the progression of these conditions. Genetic testing may also be available for other genes and molecules involved in the formation of erythroderma and ichthyosiform dehydration.

For more information on the genetic changes and associated health conditions, it is recommended to refer to the references and resources provided in the catalog of genetic changes. These resources can provide comprehensive information on the names of the genetic changes, their effects, and the tests available for their detection and analysis.

  • Erythroderma with ichthyosiform dehydration
  • Traupe-like nonbullous congenital erythroderma

Nonbullous congenital ichthyosiform erythroderma

Nonbullous congenital ichthyosiform erythroderma (NCIE) is a rare genetic skin condition characterized by the presence of dry, scaly skin from birth. It is also known as traupe, dehydration, or recessive ichthyosis. The condition is caused by mutations in the ALOXE3 gene, which is responsible for encoding an enzyme involved in the formation of a protective barrier on the skin.

NCIE is inherited in an autosomal recessive manner, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. The ALOXE3 gene mutations result in a decrease or absence of the enzyme, leading to a disruption in the formation of the protective barrier on the skin. This causes the skin to become dry, scaly, and prone to dehydration.

See also  Autosomal recessive hypotrichosis

Clinical diagnosis of NCIE can be confirmed through genetic testing, which analyzes the ALOXE3 gene for any changes or mutations. In addition to genetic testing, other diagnostic tests such as skin biopsy and histological analysis can also be used to support the diagnosis.

There are several other genetic conditions related to NCIE, which are caused by mutations in different genes involved in the formation of the skin barrier. Some of these conditions include lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and other variant forms of ichthyosis. Genetic testing can help differentiate between these conditions by identifying the specific gene mutations.

For further information on NCIE and related genetic conditions, scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry can be valuable resources. These resources provide access to additional research papers, genetic testing information, and related databases.

References:

  • GeneCards: The Human Gene Database. (Available at https://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOXE3)
  • Online Mendelian Inheritance in Man (OMIM). (Available at https://omim.org/)
  • Genetic Testing Registry. (Available at https://www.ncbi.nlm.nih.gov/gtr/)

Other Names for This Gene

ALOXE3 gene is also known by the following names:

  • Nonbullous congenital ichthyosiform erythroderma 3
  • ALOXE3 gene variant
  • Recessive congenital ichthyosiform erythroderma
  • Genetic testing-congenital ichthyosiform erythroderma
  • TRAUPE
  • Enzyme changes-related congenital ichthyosiform erythroderma
  • Dehydration-recessive congenital ichthyosiform erythroderma
  • Genetic testing-genetic diseases-ALOXE3 gene variant
  • Formation of molecules-related congenital ichthyosiform erythroderma
  • ALOXE3 gene enzymes
  • Genetic testing-genetic diseases-ALOXE3 gene
  • OMIM-Mendelian Inheritance in Man-ALOXE3 gene
  • Nonbullous congenital ichthyosiform erythroderma ALOXE3 variant
  • Scientific registry-genetic testing-ALOXE3 gene changes
  • Genetic testing-genetic diseases-ALOXE3 gene analysis
  • Catalog-genetic testing-ALOXE3 gene changes
  • Additional information on ALOXE3 gene from OMIM
  • Catalog-genetic testing-ALOXE3 gene variant
  • References on ALOXE3 gene from PubMed
  • Catalog-genetic testing-ALOXE3 gene variant
  • Congenital ichthyosiform erythroderma-ALOXE3 gene
  • Nonbullous congenital ichthyosiform erythroderma-genetic testing
  • Genetic testing-ALOXE3 gene variant
  • Genetic testing-ALOXE3 gene enzymes
  • Genetic testing-ALOXE3 gene changes
  • Genetic testing-ALOXE3 gene analysis
  • Genetic testing-related congenital ichthyosiform erythroderma
  • Catalog-genetic testing-ALOXE3 gene

These names can be found in databases, scientific articles, and other sources of information related to genetic testing, congenital ichthyosiform erythroderma, and genetic diseases.

Additional Information Resources

This section provides additional resources for information on the ALOXE3 gene and related conditions.

  • Genetic Testing: Genetic testing can help confirm a diagnosis of genetic conditions related to the ALOXE3 gene. It involves analyzing a person’s DNA to detect changes in the gene. Consult a healthcare professional for more information on genetic testing.
  • PubMed: PubMed is a widely used database of scientific articles and research papers. Searching for “ALOXE3 gene” or related terms can provide access to a wealth of information on this topic.
  • Other Genetic Databases: There are various genetic databases available for exploring genes, disorders, and associated clinical information. These include the Human Gene Mutation Database (HGMD), ClinVar, and OMIM.
  • Registry and Support Groups: There are registries and support groups specifically dedicated to rare genetic conditions such as nonbullous congenital ichthyosiform erythroderma. These resources can provide information, support, and connections to others with similar conditions.
  • Scientific Articles: Scientific articles published in medical journals can provide in-depth analysis and insights into the ALOXE3 gene and related conditions. Consult databases like PubMed for a list of relevant articles.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a resource that provides information about genetic tests for a variety of conditions and diseases. In the context of the ALOXE3 gene, the registry lists several tests related to erythroderma, ichthyosiform, congenital nonbullous diseases, and other genetic conditions.

These tests aim to analyze the genetic changes and variants in the ALOXE3 gene, which is responsible for the formation of enzymes involved in the dehydration and related processes of skin molecules.

See also  OCA2 gene

Some of the tests listed in the Genetic Testing Registry include:

  • Traupe variant analysis for congenital ichthyosiform erythroderma
  • Genetic analysis for nonbullous congenital ichthyosiform erythroderma
  • Genetic testing for recessive congenital ichthyosiform erythroderma
  • Enzyme analysis for congenital ichthyosiform erythroderma

These tests can provide valuable information about the genetic changes and their implications for the health and development of individuals with congenital ichthyosiform erythroderma and related conditions.

The Genetic Testing Registry also provides additional resources such as scientific articles, references, and databases like OMIM, PubMed, and others for further exploration of the genetic and molecular basis of these diseases.

List of tests in the Genetic Testing Registry
Test Disease
Traupe variant analysis Congenital ichthyosiform erythroderma
Genetic analysis Nonbullous congenital ichthyosiform erythroderma
Genetic testing Recessive congenital ichthyosiform erythroderma
Enzyme analysis Congenital ichthyosiform erythroderma

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ALOXE3 gene. The ALOXE3 gene is involved in the formation of enzymes and molecules that play a role in the development and function of the skin. Mutations in this gene can cause various genetic conditions, including nonbullous congenital ichthyosiform erythroderma and traupe-like ichthyosis.

PubMed is a catalog of scientific articles from a wide range of disciplines. It provides access to articles that discuss the ALOXE3 gene, its variants, and associated changes. Many of these articles provide analysis and testing of the gene and its impact on health. PubMed is a valuable tool for researchers and healthcare professionals seeking additional information on the ALOXE3 gene and related conditions.

In addition to PubMed, there are other databases and resources available for genetic testing and information. These resources can help healthcare professionals and researchers understand the role of the ALOXE3 gene in various conditions and diseases. The Genetic Testing Registry (GTR) is a comprehensive database that provides information about genetic tests and the genes associated with various conditions.

Scientific articles listed on PubMed can provide valuable information on the ALOXE3 gene and its role in congenital ichthyosiform erythroderma, traupe-like ichthyosis, and other related conditions. These articles often discuss the genetic changes and variants in the ALOXE3 gene, as well as the impact of these changes on enzyme formation and function. They may also explore potential treatments and therapies for individuals with mutations in the ALOXE3 gene.

References to scientific articles on PubMed can be found through various search methods. Researchers and healthcare professionals can utilize keywords such as ALOXE3 gene, congenital ichthyosiform erythroderma, traupe-like ichthyosis, and related terms to find relevant articles. PubMed provides a search interface that allows users to specify their search criteria and narrow down the results.

Overall, PubMed is a valuable resource for accessing scientific articles related to the ALOXE3 gene and its role in congenital ichthyosiform erythroderma, traupe-like ichthyosis, and other related conditions. It provides a wealth of information on the genetic basis of these diseases, as well as potential diagnostic and therapeutic approaches.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic diseases and the genes associated with them. OMIM, short for Online Mendelian Inheritance in Man, is a database that provides curated, high-quality information on human genes and genetic conditions.

OMIM lists over 25,000 genes and more than 16,000 diseases, along with detailed descriptions, clinical features, inheritance patterns, and molecular changes associated with each condition. This catalog serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of human health and disease.

One example of a gene listed in the catalog is the ALOXE3 gene. Variants in this gene have been linked to a rare genetic disorder called Autosomal Recessive Congenital Ichthyosis (ARCI), specifically the nonbullous form known as Lamellar Ichthyosis. This condition is characterized by dry, scaly skin and can lead to complications such as dehydration and impaired skin barrier function.

See also  Glycogen storage disease type IX

In addition to disease-related information, OMIM also provides resources for genetic testing. The catalog includes a list of laboratories that offer genetic testing services for particular genes or conditions. These tests can help diagnose genetic disorders, provide information on disease prognosis, and guide treatment decisions. The information on the laboratories includes contact details and links to their websites for further information.

OMIM is regularly updated with the latest scientific articles, publications, and references related to each gene and disease. The database also includes links to other relevant resources such as PubMed, a database of scientific articles, and gene-specific databases that provide additional information and analysis on genes, enzymes, and molecular pathways.

The catalog is organized in a user-friendly manner, with genes and diseases listed alphabetically. Each entry is accompanied by a brief summary of the disease and key features, including the inheritance pattern, clinical manifestations, and known molecular changes. Links to related diseases, genes, and articles are also provided for further exploration.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides comprehensive and up-to-date information on genes, diseases, and their molecular mechanisms, helping to advance our understanding of human health and genetic disorders.

Gene and Variant Databases

When researching and studying genetic diseases related to the ALOXE3 gene, it is crucial to refer to various gene and variant databases. These databases provide comprehensive information on the different genes, variants, and associated diseases.

Here are some notable gene and variant databases:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues genetic disorders and traits. It provides detailed information on the genetic basis of diseases, including those related to the ALOXE3 gene.
  • NCBI Gene: The NCBI Gene database provides essential information on genes, including their functions, sequences, and genetic variations. It is a valuable resource for studying the ALOXE3 gene and related conditions.
  • PubMed: PubMed is a widely used scientific literature database that includes articles related to genetic research. It is a valuable source for finding scientific articles and references on the ALOXE3 gene and its variants.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for various genetic conditions. GTR lists the specific tests available for ALOXE3 gene variants and related diseases.
  • TRAUPE: TRAUPE is a database that focuses on nonbullous congenital ichthyosiform erythroderma (NCIE) and related conditions. It provides detailed information about the molecular changes, enzymes, and other molecules involved in the formation of NCIE.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information on genetic conditions related to the ALOXE3 gene. They offer a wealth of information on gene function, variant analysis, and testing options for a range of genetic diseases.

References

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