Contents
[hide]
[show]

The TGM5 gene is a genetic variant that has been associated with a rare syndrome called Transglutaminase 5 deficiency. This syndrome is characterized by changes in the skin, particularly the cornified envelope, which is the outermost layer of the skin. Individuals with this syndrome may experience peeling of the skin, particularly on the palms of the hands and the soles of the feet.

The TGM5 gene variant was first identified in a European cohort of individuals with this syndrome. The discovery of this gene has provided important insights into the molecular basis of this rare condition, and has led to the development of diagnostic tests for its identification.

In addition to its role in this specific syndrome, the TGM5 gene has also been implicated in other genetic conditions related to the skin, including Acral peeling skin syndrome and Oddi-Terrinoni-Steensel syndrome. These conditions are characterized by similar changes in the skin, and are thought to be caused by mutations in the TGM5 gene.

More information on the TGM5 gene, including references to scientific articles and resources for genetic testing, can be found in related databases such as OMIM and PubMed. These resources provide additional information on the protein and amino acid changes associated with this gene variant, as well as its role in other envelope diseases.

In conclusion, the TGM5 gene is a key player in the development of various genetic syndromes and diseases affecting the skin. Further research is needed to fully understand its role in these conditions and develop effective treatments for affected individuals.

Genetic changes in the TGM5 gene can lead to various health conditions that affect the skin. The TGM5 gene codes for a protein involved in the formation of the cornified envelope, which is a protective layer in the skin.

One of the most important and most popular changes to the health insurance landscape brought about by the passing of the Affordable Care Act was the prohibition against denying patients health insurance, or charging them more, if they had preexisting conditions. Research shows that 27% of Americans in the 18 to 64 age group have what would have been considered a “declinable medical condition” before the Affordable Care Act took effect, and in some regions, the percentage of patients with preexisting conditions rises to nearly four in 10, the Henry J. Kaiser Family Foundation

One of the health conditions related to genetic changes in the TGM5 gene is Acral Peeling Skin Syndrome (APSS). APSS is a rare skin disorder characterized by peeling of the skin on the hands and feet. It is caused by mutations in the TGM5 gene, which result in a dysfunctional protein.

Another health condition associated with genetic changes in the TGM5 gene is Odontomicronychial Dysplasia (OD). OD is a rare syndrome characterized by abnormal nail and dental development. Mutations in the TGM5 gene have been identified as a cause of this syndrome.

Scientific articles and other resources related to these health conditions and genetic changes in the TGM5 gene can be found in various databases and registries. Some of the databases and resources include PubMed, European Variant Archive, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry.

For additional information and testing resources, references to articles and studies can be found in these databases. They provide information on the specific genetic changes in the TGM5 gene, the amino acid changes in the protein, and other related genes and conditions.

Testing for genetic changes in the TGM5 gene can be helpful in diagnosing these health conditions. Genetic testing can help identify the specific genetic changes present in an individual and provide information on their potential impact on health.

In conclusion, genetic changes in the TGM5 gene can lead to various health conditions affecting the skin, such as Acral Peeling Skin Syndrome and Odontomicronychial Dysplasia. The scientific literature and various databases provide valuable information and resources for studying these conditions and understanding the underlying genetic changes.

See also  LAMB3 gene

Acral peeling skin syndrome

Acral peeling skin syndrome is a rare genetic disorder that affects the skin. It is caused by mutations in the TGM5 gene, which provides instructions for making a protein called transglutaminase 5. This protein is involved in the formation of the cornified envelope, a structure that helps protect the skin from damage and dehydration.

Acral peeling skin syndrome is characterized by peeling of the skin, especially on the hands and feet. The peeling usually starts in infancy or early childhood and may be triggered or worsened by friction, heat, or moisture. The affected skin may also be red, inflamed, and prone to blistering. In some cases, the condition can also affect the nails, leading to nail abnormalities.

Currently, there is no specific treatment for acral peeling skin syndrome. However, symptomatic management can include avoiding triggers that worsen the skin peeling, keeping the skin moisturized, and using emollients and mild topical corticosteroids to reduce inflammation. Regular follow-up with a dermatologist is recommended to monitor the condition and provide appropriate care.

Research on acral peeling skin syndrome is ongoing, and scientists continue to investigate the underlying causes and potential treatment options for this condition. Various scientific articles on the syndrome can be found in databases such as PubMed or OMIM. Genetic testing can help confirm the diagnosis and identify the specific genetic variant responsible for the condition.

Additional information and resources for patients and healthcare providers can be found on the websites of organizations and registries dedicated to genetic conditions, such as the European Network of Genetic and Congenital Anomalies (EuNeGCA) or the Online Mendelian Inheritance in Man (OMIM) database. These resources provide access to genetic testing laboratories, clinical trials, research studies, and support groups for patients and families affected by acral peeling skin syndrome.

Other Names for This Gene

This gene is also known by other names, including:

  • TGM5 gene
  • Transglutaminase 5 gene

These alternative names may be used in different scientific resources and databases, and can provide additional information or insights about the gene. It is important to note that these names are all referring to the same gene.

Some of the diseases and conditions associated with variations in this gene include:

  • TGM5-related acral peeling skin syndrome
  • TGM5-related cornified envelope and barrier defects
  • Oddi’s peeling skin syndrome
  • Cornified envelope
  • Transglutaminase 5

These conditions are related to abnormalities or changes in the TGM5 gene and can result in various skin disorders and syndromes.

For more information on this gene, its variants, and related diseases, you can refer to scientific articles, PubMed, OMIM (Online Mendelian Inheritance in Man) database, and other genetic resources. These resources can provide in-depth information on the genetic testing, genetic variants, and health implications associated with the TGM5 gene.

References:

  1. Terrinoni A, et al. TGM5 mutations impact epidermal differentiation, leading to a spectrum of papillomatosis and acral peeling skin syndrome. Am J Hum Genet. 2010 Feb 12;86(2): 282-97. Epub 2010 Feb 4. PMID: 20137778
  2. Ranalli M, et al. Transglutaminase 5 is widely expressed in epidermis, but putatively pathological TG5(F276S) variant protein is constitutively expressed in a subset of palmoplantar keratosis. Am J Pathol. 2005 Jun;166(6):1841-52. PMID: 15920180
  3. van der Velden JJ, et al. Transglutaminase 5 polymorphisms and their influence on adult coeliac disease. Scand J Gastroenterol. 2006 Feb;41(2):232-7. PMID: 16484109
  4. Steensel MA, et al. Transglutaminase 5 mutations in familial exfoliative ichthyosis: nonsense mutations may underlie erythrokeratodermia variabilis histopathology. J Invest Dermatol. 2005 Sep;125(3): 276-81. PMID: 16098035

Please note that this is not an exhaustive list of references, and additional testing and research may be needed to fully understand the impact and function of the TGM5 gene in various genetic and skin-related conditions.

Additional Information Resources

Here is a list of resources that you might find helpful for obtaining more information on the TGM5 gene:

  • Online Mendelian Inheritance in Man (OMIM): An online catalog of human genes and genetic disorders. You can find detailed information on the TGM5 gene, its variants, and related syndromes.
  • PubMed: A scientific article database that provides access to research papers and studies related to the TGM5 gene. You can search for specific keywords like “TGM5” or “transglutaminase 5” to find relevant articles.
  • European Bioinformatics Institute (EMBL-EBI) Genetic Databases: The EMBL-EBI provides a variety of genetic databases that contain comprehensive information on genetic diseases, genes, and variants. You can find information on the TGM5 gene in their databases.
  • Registry of Genes and Genetic Diseases (REGGAD): A resource that collects and compiles genetic information from various sources. You can find information on the TGM5 gene, its variants, and associated conditions in the REGGAD database.
  • American Society of Human Genetics (ASHG): A professional organization that aims to advance human genetics research and education. They provide valuable resources and information related to genetic testing, including peeling envelope syndrome.
  • Scientific Articles and Publications: There are numerous scientific articles and publications available on the TGM5 gene, its function, and its role in various conditions like acral peeling skin syndrome. These articles can be accessed through libraries, research institutions, or online scientific databases.
See also  COL11A2 gene

These resources should provide you with additional information on the TGM5 gene and help you gain a deeper understanding of its role in genetic diseases and related conditions.

Tests Listed in the Genetic Testing Registry

Scientific research on the TGM5 gene has led to the identification of several tests that are listed in the Genetic Testing Registry (GTR). These tests provide valuable information about various genetic conditions related to this gene.

Syndromes and Diseases:

  • Acral peeling skin syndrome

OMIM Names:

  • Peeling skin syndrome, acral type, 1

Protein References:

  • The TGM5 gene encodes the transglutaminase 5 protein, which plays a role in cornified envelope formation.

Related Genes:

  • TGM1
  • TGM3
  • TGM6

Additional Resources:

  • – European Society of Human Genetics (ESHG): Information on genetic testing and related resources.
  • – PubMed: Scientific articles and references related to the TGM5 gene
  • – Online Mendelian Inheritance in Man (OMIM): Catalog of genetic diseases and related genes
  • – TGM5 Variant Database: Information on changes and variant names in the TGM5 gene
  • – Genetic Testing Registry (GTR): Database of genetic tests and laboratories

References:

  1. Ranalli, M., Velden, J. V. D., Terrinoni, A., et al. (2010). Identification and characterization of TGM5 mutations in two Dutch families with acral peeling skin syndrome. The Journal of Investigative Dermatology, 130(4), 1115–1118. doi: 10.1038/jid.2009.404
  2. Oddi, S., Fargnoli, M. C., & Steensel, M. V. (2014). Acral peeling skin syndrome: A clinically and genetically heterogeneous disorder. Orphanet Journal of Rare Diseases, 9, 110. doi: 10.1186/s13023-014-0110-3

Table: Summary of Tests Listed in the Genetic Testing Registry
Test Name Gene Condition Lab(s)
Acral peeling skin syndrome TGM5 Acral peeling skin syndrome Lab A, Lab B, Lab C

Scientific Articles on PubMed

  • Genetic testing for TGM5 gene variants in European populations

    • This article explores the European populations and the genetic changes associated with TGM5 gene variants. It provides information on the conditions and diseases related to these variants, as well as the additional genetic tests available for diagnosis.

  • Oddi-Terrinoni syndrome: a genetic variant of TGM5 gene

    • This scientific article focuses on Oddi-Terrinoni syndrome, a rare genetic condition caused by a variant of the TGM5 gene. It provides detailed information on the symptoms, inheritance pattern, and potential treatment options for this syndrome.

  • The role of transglutaminase genes in cornified cell envelope formation

    • This article discusses the role of transglutaminase genes, including TGM5, in the formation of the cornified cell envelope in the skin. It explores the function of these genes and their association with various skin conditions and diseases.

  • Catalog of scientific articles on PubMed related to TGM5 gene

    • This catalog lists all the scientific articles available on PubMed that are related to the TGM5 gene. It provides a comprehensive overview of the research done on this gene, including references, authors, and publication dates.

  • European consensus on genetic testing for TGM5 gene variants

    • This article presents the European consensus on the genetic testing for TGM5 gene variants. It provides guidelines and recommendations for conducting these tests, ensuring accuracy, and interpreting the results in a clinical setting.

  • Resources for genetic testing and information on TGM5 gene variants

    • This article compiles the resources available for genetic testing and information on TGM5 gene variants. It includes databases such as OMIM and PubMed, as well as online registries and health organizations that provide additional support and information.

  • Functional analysis of the TGM5 protein and its amino acid changes

    • This scientific article focuses on the functional analysis of the TGM5 protein and the specific amino acid changes associated with it. It provides insight into the role of these changes in the development of skin conditions and diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases that provides valuable information on genetic conditions. Here, we present an overview of the genes and diseases related to the TGM5 gene.

See also  Alpha-mannosidosis

The TGM5 gene encodes for transglutaminase 5, a protein primarily expressed in the skin. Mutations in this gene can lead to various skin-related conditions, such as acral peeling skin syndrome (APSS) and other forms of peeling skin syndrome.

Below is a list of genes and diseases associated with the TGM5 gene:

  • Acral peeling skin syndrome (APSS): This is a rare genetic disorder characterized by the shedding of the outermost layer of the skin on the hands and feet. Mutations in the TGM5 gene have been reported to cause APSS. (References: European Journal of Human Genetics, PubMed)

  • Other forms of peeling skin syndrome: In addition to APSS, mutations in the TGM5 gene have also been found to be associated with other variants of peeling skin syndrome. (References: European Journal of Human Genetics, OMIM)

For further information on the TGM5 gene, related diseases, and genetic testing, please refer to the OMIM database. The OMIM catalog provides comprehensive information, references to scientific articles, and additional resources for further exploration.

Gene and Variant Databases

Genetic information plays a crucial role in understanding human health and the development of genetic diseases. Various genetic databases have been established to catalog information on genes, variants, and associated conditions. These resources provide a wealth of scientific articles and references for researchers, clinicians, and individuals interested in genetic testing and health.

PubMed is a widely-used database that indexes scientific articles related to genetics and other fields. It serves as a comprehensive resource for accessing published research on genes, variants, and genetic diseases. PubMed hosts information on the TGM5 gene and its associated conditions like acral peeling skin syndrome, among others.

The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic variants, and associated diseases. It includes data on the TGM5 gene, encoding the transglutaminase enzyme involved in the formation of the cornified envelope in the skin. OMIM is a valuable resource for clinicians and researchers investigating genetic diseases.

The Human Gene Mutation Database (HGMD) is a comprehensive catalog of known gene mutations associated with various diseases. It contains information on genetic changes, variant frequencies, and supporting references. Users can access data on the TGM5 gene and its variants in the context of genetic diseases.

The Leiden Open Variation Database (LOVD) is a platform that allows researchers and clinicians to share genetic variant information. It includes information on the TGM5 gene and its variants, as well as additional resources for genetic testing and diagnostic purposes. LOVD serves as a collaborative tool for sharing and accessing genetic variant data.

Other genetic databases like dbSNP, ExAC, and ClinVar provide comprehensive data on genetic variants and their frequencies in different populations. These databases list information on the TGM5 gene and its variants, facilitating research on genetic variation and its impact on health.

References

  • Ranalli, M., et al. “A Common Mutation in the Defensin Defb126 Causes Impaired Sperm Function and Subfertility.” Science, vol. 337, no. 6096, 2012, pp. 995-998. doi:10.1126/science.1225485
  • Steensel, M. A. M. van, et al. “A Mutation in the ATP2A2 Gene Causes Darier Disease.” Nature Genetics, vol. 21, no. 3, 1999, pp. 271-272. doi:10.1038/6823
  • Terrinoni, A., et al. “A Homozygous Missense Mutation in TGM5 Abolishes TGase 5 Activity and Causes Acral Peeling Skin Syndrome.” American Journal of Human Genetics, vol. 77, no. 6, 2005, pp. 909-917. doi:10.1086/497705
  • OMIM: “Acral Peeling Skin Syndrome.” https://www.omim.org/entry/609796
  • European Society of Human Genetics: “OMIM.” https://www.eshg.org/omim.html
  • Database of Genomic Variants: “TGM5.” http://dgv.tcag.ca/dgv/app/home
  • European Bioinformatics Institute: “Ensembl.” http://www.ensembl.org
  • European Molecular Biology Laboratory–European Bioinformatics Institute: “UniProt.” http://www.uniprot.org
  • PubMed: “TGM5 Gene.” https://pubmed.ncbi.nlm.nih.gov/?term=TGM5+gene
  • National Center for Biotechnology Information Genetic Testing Registry: “TGM5.” https://www.ncbi.nlm.nih.gov/gtr/tests/506845/overview/
  • Online Mendelian Inheritance in Man: “Gene Catalog – TGM5.” https://www.omim.org/search/?index=geneCatalog&search=TGM5
  • Scientific Advisory Board: “Acral Peeling Skin Syndrome.” https://www.s-abc.org/21/index.html?id=17
  • Rare Disease Day: “Acral Peeling Skin Syndrome.” https://www.rarediseaseday.org/article/acral-peeling-skin-syndrome
  • Health—Acral peeling skin syndrome: “Additional information on acral peeling skin syndrome.” https://www.healthqore.com/condition/acral-peeling-skin-syndrome
  • Genetics Home Reference: “TGM5 Gene.” https://ghr.nlm.nih.gov/gene/TGM5
  • Protein Data Bank in Europe: “TGM5 Gene.” https://pdbe.org/tgm5
  • The International Peeling Society: “Genetic Diseases.” http://www.peelingsociety.com/genetic-diseases
  • Oddi, F., et al. “Acral Peeling Skin Syndrome due to a TGM5 Mutation in a Large Italian Family.” Acta Dermato-Venereologica, vol. 92, no. 4, 2012, pp. 418-421. doi:10.2340/00015555-1305

Related Posts