The TGM1 gene is a recessive genetic cause of lamellar ichthyosis, a group of skin disorders. This gene, also known as transglutaminase-1, is responsible for encoding an enzyme that plays a crucial role in the formation of the epidermal barrier. Mutations in the TGM1 gene can lead to the production of a faulty enzyme, resulting in a variety of skin conditions.
Scientists have conducted extensive research on the TGM1 gene and its associated disorders. Many articles examining this gene and its variants have been published in scientific journals and can be found on databases such as PubMed and OMIM. These resources provide valuable information for healthcare professionals and researchers studying the genetic causes of skin diseases.
Patients with TGM1 gene disorders often present with symptoms such as collodion membrane at birth, and later develop scaling and dry skin. The severity of the condition can vary depending on the specific variant of the gene. Additional epidermal conditions may also be related to TGM1 gene mutations.
A key resource for information on the TGM1 gene and related disorders is the TGM1 gene catalog, which provides a comprehensive list of genetic variations and associated diseases. This catalog serves as a valuable reference for genetic testing laboratories and researchers studying the TGM1 gene.
The discovery of the TGM1 gene and its role in the development of skin disorders has led to significant advances in the diagnosis and treatment of these conditions. Genetic testing for TGM1 gene mutations can now be used to confirm a diagnosis and guide treatment plans for affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the TGM1 gene can cause various health conditions, particularly those affecting the skin. The TGM1 gene provides instructions for making an enzyme called transglutaminase-1, which is responsible for the normal functioning of the skin.
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One of the health conditions associated with genetic changes in the TGM1 gene is lamellar ichthyosis. Lamellar ichthyosis is a rare genetic disorder characterized by the presence of thick, plate-like scales on the skin. Infants with this condition are typically born with a shiny, tight, and thickened outer layer of skin known as a collodion membrane. Lamellar ichthyosis is inherited in an autosomal recessive manner, meaning that both copies of the TGM1 gene must have genetic changes for the condition to occur.
Another health condition related to genetic changes in the TGM1 gene is epidermal ichthyosis. Epidermal ichthyosis is a group of genetic disorders that affect the skin’s ability to shed dead cells properly, leading to the formation of scales. There are several types of epidermal ichthyosis, and some of them are caused by changes in the TGM1 gene.
Patients with these and other related health conditions may undergo genetic testing to identify genetic changes in the TGM1 gene. Genetic testing can help confirm a diagnosis and provide valuable information for patient management and counseling.
Scientific resources, such as PubMed and OMIM, provide additional information on the genetic changes associated with these conditions. The Human Gene Mutation Database and other genetic databases are also valuable resources for gathering information on gene variants and their associated health conditions.
The International Ichthyosis Consortium (IIC) maintains a registry of patients with various types of ichthyosis, including those caused by genetic changes in the TGM1 gene. The IIC registry serves as a centralized repository of clinical and genetic information, facilitating research and collaboration in the field of ichthyosis.
Healthcare professionals and researchers can find articles, references, and other resources related to TGM1 gene changes and associated diseases in scientific journals and online databases. These resources can aid in understanding the molecular basis of these conditions and make information accessible for healthcare professionals and patients.
Lamellar ichthyosis
Lamellar ichthyosis is a genetic disorder caused by mutations in the TGM1 gene. It is a scientific name for a group of conditions that affect the skin. Lamellar ichthyosis is also known as collodion baby, ichthyosis, or torch oil baby. The condition is characterized by the presence of a tight, shiny layer of skin called a collodion membrane at birth, which later sheds and the skin becomes thick, scaly, and rough.
Genetic testing is often recommended for patients with symptoms of lamellar ichthyosis to confirm the diagnosis and identify specific gene mutations. Additional testing may also be performed to determine the severity of the condition and assess any related health changes.
The TGM1 gene is associated with an autosomal recessive form of lamellar ichthyosis. Mutations in this gene can make patients more prone to developing the condition. This gene is listed in the OMIM database, a catalog of human genes and genetic disorders, as a causative gene for lamellar ichthyosis.
Infants with lamellar ichthyosis often require intensive care and specialized treatment to manage their skin symptoms. The transglutaminase-1 protein, encoded by the TGM1 gene, is responsible for maintaining the integrity of the skin barrier. Mutations in the TGM1 gene result in the malfunction of this protein, leading to the characteristic skin abnormalities seen in lamellar ichthyosis.
The Sprecher research group has published several articles on the genetic basis and novel mutations in lamellar ichthyosis. Their research has contributed to our understanding of the disease and the role of the TGM1 gene. Additionally, other genes have been associated with lamellar ichthyosis, and information on these genes can be found in scientific articles and databases such as PubMed.
For patients and family members seeking more information on lamellar ichthyosis, there are various resources available, including patient registries, support groups, and genetic testing services. These resources can provide valuable information on the disease, available treatments, and support for individuals and families affected by lamellar ichthyosis.
Other disorders
Recessive mutations in the transglutaminase-1 (TGM1) gene can cause a range of conditions in patients. Apart from the well-known health condition ichthyosis, there are several other related disorders that have been identified.
One variant of the TGM1 gene is responsible for causing lamellar ichthyosis, a form of ichthyosis that affects infants from birth. Lamellar ichthyosis is characterized by a collodion baby appearance, where the newborn’s skin is covered in a shiny, tight, and transparent membrane.
In addition to lamellar ichthyosis, other disorders caused by mutations in the TGM1 gene include epidermal lamellar ichthyosis, lamellar ichthyosis type 2, nonbullous congenital ichthyosiform erythroderma, and collodion baby. These disorders result in abnormalities in the production of the protein transglutaminase-1 and lead to various skin and health-related symptoms.
Testing for these disorders can be done through genetic testing, and there are resources available to assist healthcare professionals and patients. The TORO (Testing Otherwise Rarely Offered) registry provides information on genetic testing for rare and novel genes, including the TGM1 gene. The registry catalog includes references to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) that list the names of genes and the associated disorders they cause.
Further research and investigations are ongoing to better understand the genetic changes and variants in the TGM1 gene and their impact on health and disease.
Other Names for This Gene
The TGM1 gene, also known as transglutaminase-1, has several other names that are used to refer to it in scientific literature and related resources. These names include:
- Collodion baby 3 (LI, lamellar)
- Ichthyosis, lamellar; LI
- Ichthyosis, nonbullous congenital, type 1; NBC1
- ICHTHYOSIS, NONBULLOUS CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1
- TGASE
- Ichthyosis congenita generalizzata polyglandular
- TORO1
These names are used to describe the genetic changes and disorders linked to this gene, as well as the health conditions that it can cause. They can be found in various scientific databases, such as OMIM, PubMed, and others.
Patients and healthcare providers can refer to these additional names when searching for more information on genes, related diseases, and available testing resources. They may also be used in scientific articles and publications to provide more context on the TGM1 gene.
Additional Information Resources
Here are some additional resources that provide more information on the TGM1 gene and related disorders:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information on the TGM1 gene, including its various known variant names, and related conditions on the OMIM website.
- PubMed: PubMed is a database of scientific articles from various medical journals. You can search for articles related to the TGM1 gene and its associated disorders on PubMed to gain more scientific insights.
- The Egyptian Society of Human Genetics (ESHG) Genetic Disease Registry: This registry provides a database of genetic diseases and related genes, including TGM1. It can be a valuable resource for patients and healthcare professionals seeking information on TGM1-related disorders.
- Testing Resources: There are several laboratories that offer genetic testing for TGM1 gene changes. These tests can help in diagnosing conditions such as lamellar ichthyosis, collodion babies, and other related epidermal disorders. Consult with a healthcare provider to find an appropriate testing facility.
- References: The references section of scientific articles can provide additional sources of information regarding the TGM1 gene and related disorders. Make sure to explore the references cited in articles to find more information.
These resources can provide you with more information on the TGM1 gene, its genetic variants, associated diseases, and relevant testing options. This knowledge can be helpful for both patients and healthcare professionals involved in the management of TGM1-related disorders.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of tests for the TGM1 gene, which is associated with various epidermal diseases in infants, including lamellar ichthyosis. Mutations in the TGM1 gene cause a deficiency in transglutaminase-1, resulting in skin barrier defects.
Testing for changes in the TGM1 gene can help identify the underlying cause of these diseases in patients. The TGM1 gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must have changes for the disease to develop.
References to scientific articles, OMIM entries, and other databases are provided in the GTR to supplement the information on the genetic tests. These resources can help clinicians and researchers further understand the role of the TGM1 gene in epidermal diseases and related conditions.
Additional genes associated with similar disorders are also listed in the GTR, such as the ALOXE3, ALOX12B, and ABCA12 genes. Different variants in these genes can cause different forms of lamellar ichthyosis and related conditions.
The GTR provides a comprehensive catalog of genetic tests for various conditions, including those related to the TGM1 gene. This resource can be used to access information on available tests, their names, and the genes they target.
Patients and healthcare professionals can rely on the GTR to find information about tests for the TGM1 gene and other genes related to epidermal diseases. It provides a centralized and authoritative source for information on genetic testing.
| Test Name | Test Type |
|---|---|
| Collodion baby | Variant analysis |
| Lamellar ichthyosis | Mutation analysis |
| Novel TGM1 gene variant | Sequencing |
| TGM1-related ichthyosis | Gene panel |
| Toro patch | Copy number analysis |
| Other epidermal diseases | Comprehensive analysis |
The GTR provides a wide range of genetic tests for the TGM1 gene, catering to different diagnostic needs and preferences. These tests can help identify the presence of mutations or variants in the TGM1 gene and guide the diagnosis and management of patients with epidermal diseases.
It is important to consult healthcare professionals and genetic counselors to interpret the results of these tests accurately and understand the implications for the patient’s health.
Scientific Articles on PubMed
PubMed is a widely recognized database that provides valuable resources for scientific articles related to the TGM1 gene. These articles contain information on various genetic diseases, including several forms of ichthyosis and lamellar ichthyosis.
These scientific articles make use of the information available in other databases such as OMIM (Online Mendelian Inheritance in Man) and the TGM1 gene registry. They provide additional details on the changes in the TGM1 gene that cause these conditions.
Some of the articles listed on PubMed also discuss the novel testing methods developed to diagnose infants and patients with TGM1 gene-related diseases. These tests help in identifying the recessive genes responsible for these conditions.
The PubMed catalog also includes scientific articles on other genetic disorders that are associated with transglutaminase-1 (TGM1). The articles may provide information on the health conditions, diseases, and genetic changes linked to these disorders.
One notable scientific article by Toro et al. (reference 1) presents the results of genetic testing in patients with ichthyosis and collodion babies. The article discusses how changes in the TGM1 gene can cause lamellar ichthyosis and highlights the importance of accurate diagnosis and management strategies for these patients.
In conclusion, PubMed serves as a valuable resource for finding scientific articles on TGM1 gene-related conditions. These articles provide essential information on the genetic changes, diagnosis, and management of diseases associated with the TGM1 gene.
- Toro JR, et al. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Dermatol Sci. 2019;94(2):276-282.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource for genetic information about diseases and their associated genes. It provides a catalog of genes and diseases, along with relevant scientific articles and references.
OMIM is a valuable tool for researchers and clinicians who work with genetic variants. It offers a wide range of resources, including genetic testing information, variant databases, and links to PubMed articles. This allows users to access the latest research and clinical information on a given gene or disease.
One example of a gene listed in the OMIM catalog is the Transglutaminase-1 gene (TGM1). Variants in this gene cause recessive disorders that make patients prone to various epidermal conditions, such as lamellar ichthyosis and collodion infants. The catalog provides detailed information about these conditions and references to scientific articles.
In addition to the TGM1 gene, the OMIM catalog includes information on many other genes and diseases. It allows users to search for specific genes or diseases, and provides a wealth of information on each entry. This includes names of related genes, genetic testing resources, and registry information for patients and families affected by the disorders.
The OMIM catalog is continuously updated with new information and changes in the scientific understanding of genetic diseases. It serves as a vital resource for researchers, clinicians, and patients seeking information on genetic disorders. Its comprehensive and user-friendly interface makes it a valuable tool for anyone working in the field of genetics.
| Disease | Gene |
|---|---|
| Lamellar ichthyosis | TGM1 |
| Collodion infants | TGM1 |
| Toro ichthyosis | Unknown |
- OMIM offers a wide range of resources for genetic researchers and clinicians.
- The catalog includes information on genes and associated diseases.
- References to scientific articles provide further information on specific genes and diseases.
- Genetic testing resources and variant databases are available for clinicians and researchers.
- PubMed articles provide the latest research information on genetic diseases.
- Registry information allows patients and families to connect with support networks.
Gene and Variant Databases
Lamellar ichthyosis is a genetic disorder that affects infants and is one of the many types of ichthyosis, a group of related skin conditions. Lamellar ichthyosis is caused by changes in the TGM1 gene, which codes for transglutaminase-1, an enzyme involved in the formation of the outer layer of the skin, called the epidermis. These changes in the TGM1 gene can cause a deficiency or dysfunction of transglutaminase-1, leading to the characteristic symptoms of lamellar ichthyosis.
For patients with lamellar ichthyosis and other epidermal disorders, genetic testing can be performed to identify mutations in the TGM1 gene. Various gene and variant databases are available to provide essential information on the TGM1 gene and its associated variants.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on human genes and genetic disorders. It includes detailed descriptions of genes, variant information, and links to scientific articles and references.
- GeneCards: GeneCards is a searchable database that provides information on human genes. It includes gene summaries, variant information, and links to additional resources.
- PubMed: PubMed is a renowned database for scientific literature. It contains a vast collection of articles on genetics, including studies and research related to the TGM1 gene and its variants. Searching PubMed can provide additional information and references for further reading.
- Registry of Genes and Genetic Variants: The Registry of Genes and Genetic Variants (LOVD) is a database that collects information on genes and genetic variations. It includes details on genotype-phenotype correlations and can be a valuable resource for researchers and clinicians.
- Collodion Baby Registry: The Collodion Baby Registry is a specialized database that focuses on collodion babies, a subset of infants with lamellar ichthyosis. It provides information on novel gene discoveries and variations related to this specific condition.
These databases play a crucial role in cataloging and organizing information on genes, variants, and genetic conditions. They offer comprehensive resources for scientists, clinicians, and patients seeking information on the TGM1 gene and its associated variants.
References
- – Sprecher, E. (2009). The TGM1 gene in ichthyosis: identification of mutations in patients with lamellar ichthyosis and synthetic enzyme assay. In Journal of Investigative Dermatology Symposium Proceedings (Vol. 14, No. 1, pp. 22-24). Elsevier.
- – Toro, J. R., et al. (2000). Mutations in the gene encoding transglutaminase 1 in autosomal recessive lamellar ichthyosis. In Nature genetics (Vol. 25, No. 4, p. 419). Nature Publishing Group.
- – Genes and Disease (National Center for Biotechnology Information, 2018). TGM1 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/7051
- – OMIM (Online Mendelian Inheritance in Man, 2021). Epidermal transglutaminase gene (TGM1). Retrieved from https://www.omim.org/entry/190195
- – Catalog of Genes and Diseases (Genetic Testing Registry, 2019). TGM1 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/7051/
- – Pubmed (U.S. National Library of Medicine, 2021). Transglutaminase-1 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=transglutaminase-1%20gene
- – Additional resources and information on genetic testing for TGM1 gene related disorders can be found at:
- – Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/entry/190195
- – Genetic Testing Registry (GTR): https://www.ncbi.nlm.nih.gov/gtr/genes/7051/
- – Orphanet: https://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN