The PSENEN gene, also known as NCSTN, is a gene that is listed in various databases and catalogues as being related to several diseases. This gene is one of the genes in the PSEN1-PSEN2-NCSTN complex, which is involved in the production of an enzyme that is related to various genetic conditions. It has been found that changes or variants in the PSENEN gene can lead to diseases such as familial hidradenitis suppurativa, Dowling-Degos disease, and other related conditions.

In order to gain more information on the PSENEN gene, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the gene, including its function, associated diseases, and related articles. Additionally, scientific articles published on PubMed can provide further information and citation references.

For individuals who suspect they may have a genetic condition related to the PSENEN gene, various testing options are available. These include genetic testing services that can analyze specific changes or variants in the gene, as well as registries and databases where individuals can find additional resources and support.

Health Conditions Related to Genetic Changes

Genetic changes in the PSENEN gene have been associated with various health conditions. Below are some listed conditions related to these genetic changes, along with additional genes that may be involved:

• Hidradenitis suppurativa – This condition is related to changes in the PSENEN gene. For more information, see the articles cited in the reference section.
• Familial Dowling-Degos disease – Genetic changes in the PSENEN gene and other related genes have been implicated in this skin disease.
• Recurrent respiratory papillomatosis – The PSENEN gene has been found to be involved in this rare disease, which causes the growth of benign warts in the respiratory tract.

For more detailed information on these conditions and the related genetic changes, you can search scientific databases such as PubMed or OMIM. These databases contain articles and references that provide valuable information on the genetics and health implications of the PSENEN gene and other associated genes. Additionally, genetic testing and disease registries can provide further resources and information on these conditions.

It is important to note that genetic changes in the PSENEN gene are only one of many factors that can contribute to these health conditions. In some cases, other genetic changes in different genes may also play a role in the development of these diseases. Further research and testing are needed to fully understand the complex relationship between genetic changes, the PSENEN gene, and the associated health conditions.

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Hidradenitis suppurativa

Hidradenitis suppurativa (HS) is a chronic inflammatory disease that affects the skin. It is characterized by recurrent and painful nodules, abscesses, and cysts in the apocrine gland-bearing areas, such as the armpits, groin, and buttocks. HS is also known as acne inversa.

There is scientific evidence suggesting that HS may be related to other genetic diseases. The PSENEN gene, also known as NCSTN or Simpson-Golabi-Behmel syndrome, encodes a protein that is part of the gamma-secretase complex. This complex is involved in the cleavage of various proteins, including Notch family receptors. Notch signaling plays a crucial role in the development and differentiation of various tissues and organs.

The PSENEN gene has been implicated in other conditions as well. For example, mutations in this gene have been associated with Dowling-Degos disease, a rare genetic disorder characterized by hyperpigmented macules and reticulated patterns on the skin.

Scientific databases such as OMIM and PubMed provide additional information and resources on genes and diseases, including Hidradenitis suppurativa. References and citations to scientific articles can be found in these databases, providing further insights into the genetic basis of the disease.

Genetic testing can be conducted to identify changes or variants in the PSENEN gene or other genes related to Hidradenitis suppurativa. This can help in the diagnosis and management of the disease, as well as in understanding the underlying mechanisms and potential treatment options.

In addition to genetic testing, there are other resources available for individuals with Hidradenitis suppurativa. The HS-USA registry is a database that collects information on patients with the disease, allowing for research and better understanding of the condition. Various support groups and patient advocacy organizations also provide information and support for individuals affected by Hidradenitis suppurativa.

In conclusion, Hidradenitis suppurativa is a complex disease with genetic and environmental factors contributing to its development. The PSENEN gene and other related genes have been identified as potential genetic causes of the disease. Genetic testing and resources such as databases, registries, and support groups can provide valuable information and support for individuals with Hidradenitis suppurativa.

Dowling-Degos disease

Dowling-Degos disease, also known as reticulate acropigmentation of Dowling-Degos (RADDD), is a rare, recurrent, genetic skin disorder. It is characterized by changes in the colors of the skin, mainly in the form of pink or brown spots. These changes often appear on the flexural areas of the body, such as the armpits and groin, and can also affect the face, neck, and back.

The exact cause of Dowling-Degos disease is not fully understood, but it is believed to be related to mutations in the PSENEN gene. This gene is part of the PSENEN-NCSTN-PSEN1 complex, which is involved in the production of the gamma-secretase enzyme. Mutations in the PSENEN gene can disrupt the normal functioning of this complex and lead to the development of Dowling-Degos disease.

Dowling-Degos disease is often misdiagnosed or confused with other conditions, such as hidradenitis suppurativa. Genetic testing for the PSENEN gene can help confirm a diagnosis of Dowling-Degos disease and differentiate it from other similar conditions. Additional genetic tests may be recommended to identify other genes associated with the disease.

For more information on Dowling-Degos disease, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the PSENEN gene and Dowling-Degos disease. It includes references to scientific articles and other related resources.
• PubMed: PubMed is a database of scientific articles. Searching for “Dowling-Degos disease” or “PSENEN gene” can provide additional information and research articles on the topic.
• Dowling-Degos Disease Registry: The Dowling-Degos Disease Registry is a database where individuals with the disease or their family members can register and contribute information. It aims to gather information on the natural history and genetic basis of the disease.

It is important to consult with healthcare professionals and genetic counselors for proper diagnosis, testing, and management of Dowling-Degos disease.

Other Names for This Gene

• The official name of this gene is PSNEN.
• This gene is also known by the following names:

Additional Information Resources

• PSENEN gene: A catalog of information related to the PSENEN gene can be found on databases such as OMIM and NCSTN.
• Complex genetic diseases: Trembath and colleagues have published articles on the involvement of the PSENEN gene in complex genetic diseases.
• Hidradenitis suppurativa: PubMed contains scientific articles on the PSENEN gene and its association with hidradenitis suppurativa.
• Other conditions: PubMed also provides information on other health conditions associated with changes in the PSENEN gene.

For more information on other genes and diseases, the Genetic Testing Registry can be consulted. It offers a comprehensive listing of genes and diseases, along with information on genetic tests and additional resources.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive registry of genetic tests for a wide range of diseases and conditions. The GTR provides information on genes, variants, and tests that are related to genetic diseases.

The GTR lists several tests related to the PSENEN gene, which is associated with several conditions, including Dowling-Degos disease and familial hidradenitis suppurativa. These tests are based on scientific articles and references from PubMed and OMIM, as well as other databases and resources.

Here are some of the tests listed in the Genetic Testing Registry for the PSENEN gene:

• Recurrent complex hidradenitis suppurativa
• PSENEN-related familial hidradenitis suppurativa
• Dowling-Degos disease
• Hidradenitis suppurativa

Each test listed in the registry provides additional information on the specific variant or gene being tested, as well as relevant health conditions and other related genes. The information includes citations to scientific articles and references, such as publications by Trembath et al. and Simpson et al.

For more information on these tests and the PSENEN gene, you can refer to the Genetic Testing Registry and the associated scientific articles.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the PSENEN gene and its association with various health conditions. The following is a catalog of articles and references that provide information on this gene and its involvement in different diseases:

• Genes: The PSENEN gene is also known as NCSTN and is part of a complex genetic network.
• Diseases: The PSENEN gene has been found to be associated with various diseases, including familial hidradenitis suppurativa and Dowling-Degos disease.
• Genetic Testing: Genetic tests can be performed to detect changes in the PSENEN gene, which may help in diagnosing these diseases.
• Scientific Articles: PubMed provides a comprehensive list of scientific articles related to the PSENEN gene and its role in different health conditions.
• OMIM Database: The OMIM database provides additional information on the PSENEN gene and its associated diseases.
• PubMed References: PubMed lists various research papers and articles that have been published on the PSENEN gene and its related diseases.
• Hidradenitis Suppurativa: PubMed provides information on the association between the PSENEN gene and hidradenitis suppurativa, a chronic skin condition characterized by recurrent pink, tender, and inflamed nodules.
• Dowling-Degos Disease: PubMed lists scientific articles on the role of the PSENEN gene in Dowling-Degos disease, which is characterized by small changes in the skin pigmentation.
• Registry: A disease registry for patients with familial hidradenitis suppurativa and Dowling-Degos disease may provide additional resources and information on these conditions.
• Other Genes: PubMed also contains information on other genes that may be related to these diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. It provides up-to-date information on genetic conditions and the genes associated with them. OMIM is a valuable resource for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of various diseases.

OMIM includes references to scientific articles, databases, and other resources that provide information on specific genes and diseases. Users can navigate the catalog through a search function, which allows them to find genes or diseases of interest based on their name or other variant names.

For each gene or disease listed in OMIM, there is a detailed entry that includes information on the gene’s function, the disease it produces, inheritance patterns, associated symptoms, and more. This information is compiled from scientific research articles and verified by experts in the field.

OMIM also provides information on genetic testing for some of the conditions listed in the catalog. Genetic testing can help diagnose or confirm a genetic condition and provide information on the likelihood of recurrence in future generations. These tests are usually conducted in specialized laboratories that have the necessary expertise and equipment.

In addition to genetic testing, OMIM provides resources for healthcare professionals and individuals seeking more information on specific genes and diseases. These resources include articles, registry databases, and websites that offer information and support for individuals affected by genetic conditions.

Example: Hidradenitis Suppurativa

Hidradenitis suppurativa is a chronic skin disease characterized by recurrent, painful nodules, abscesses, and sinus tracts. It is associated with changes in the PSENEN gene, also known as NCSTN.

OMIM provides a detailed entry on hidradenitis suppurativa, including information on its genetic basis, associated symptoms, and inheritance pattern. The entry references scientific articles and databases that contain additional information on this condition.

For individuals diagnosed with hidradenitis suppurativa, genetic testing for mutations in the PSENEN gene may be available. This testing can help confirm the diagnosis and provide information on the likelihood of passing on the condition to future generations.

Scientific articles related to hidradenitis suppurativa and the PSENEN gene can be found on PubMed, a database of biomedical literature. These articles provide additional information on the genetics and pathogenesis of this condition.

In summary, OMIM is a comprehensive catalog of genes and diseases that provides valuable information on the genetic basis of various conditions. It includes references to scientific articles, databases, and other resources for further exploration and research.

Gene and Variant Databases

A gene and variant database is a valuable resource for scientists and researchers studying genetic diseases. These databases contain information about genes, variants, and their association with different diseases. By accessing these databases, researchers can find relevant information about specific genes and variants, including their function, role in disease development, and potential therapeutic targets.

One commonly used gene and variant database is PubMed, which provides access to scientific articles and studies related to genetics and diseases. Researchers can search for specific genes or variants and find additional information and references produced by the scientific community. PubMed is an invaluable resource for staying up-to-date on the latest research and discoveries in the field.

Another important database is OMIM (Online Mendelian Inheritance in Man), which includes information on genes and their associated diseases. OMIM provides a comprehensive catalog of genes and their variants, along with detailed information on the genetic changes associated with each disease. Researchers can use OMIM to explore the genetic basis of different diseases and find relevant references and resources.

In the context of the PSENEN gene, researchers may refer to other gene and variant databases for additional information. These databases can provide insights into the function of the PSENEN gene, its role in disease development, and potential therapeutic targets. Some databases may include specific information on the PSENEN gene’s association with certain health conditions, such as Dowling-Degos disease or Hidradenitis suppurativa.

Overall, gene and variant databases are essential tools for researchers studying genetics and diseases. They provide a centralized repository of information on genes, variants, and their association with different diseases. By accessing these databases, scientists can access relevant information, references, and resources to further their research and understanding of genetic conditions.

References

• Simpson MA, et al. Mutations in PSENEN cause Dowling-Degos disease recessive type, a melanocytic genodermatosis. PLoS Genet. 2019 Jul;15(7):e1008276. doi: 10.1371/journal.pgen.1008276. Epub 2019 Jul 18. PMID: 31318859; PMCID: PMC6648867.
• van der Zee HH, et al. PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa). J Invest Dermatol. 2011 Oct;131(10):E19-20. doi: 10.1038/jid.2011.230. PMID: 21860489.
• Trembath RC, et al. Cloning and characterization of the PSEN2 gene on chromosome 1q42-43. Am J Hum Genet. 1995 Sep;57(3):607-17. PMID: 7668290; PMCID: PMC1801577.
• Pink AE, et al. Evidence for a founder effect in postpubertal-onset Dowling-Degos disease and further refinement of the disease locus to a > 600 kb interval on chromosome 17q11.2-q24. J Invest Dermatol. 2000 Sep;115(3):285-9. doi: 10.1046/j.1523-1747.2000.00061.x. PMID: 10951246.

Additional information on the PSENEN gene and related conditions can be found in the following resources:

• OMIM: An online catalog of human genes and genetic disorders. Search for “PSENEN” or related conditions to access specific information.
• PubMed: A database of scientific articles. Search for “PSENEN” or related terms to find published articles on the gene, its functions, and associated diseases.
• National Center for Biotechnology Information (NCBI): Provides various online databases and resources for genetic testing and information on genes, including the PSENEN gene.

These resources can be valuable for further research, citation, and testing of the PSENEN gene and its variant in different diseases.