FERMT1 gene

Published Categorized as Genetics
FERMT1 gene

The FERMT1 gene, also known as Kindlin-1, is a gene that plays a crucial role in various biological processes. It has been extensively studied and documented in scientific literature, with numerous articles and references available on databases such as PubMed and OMIM.

FERMT1 is associated with several genetic diseases and conditions, including Kindler syndrome, a rare autosomal recessive disorder characterized by skin fragility, epithelial blistering, and skin cancer susceptibility. Mutations in the FERMT1 gene are known to cause changes in the structure and function of Kindlin-1, leading to the development of these conditions.

Further information on the FERMT1 gene, its functions, and its role in various diseases can be found in resources such as the Genetic Testing Registry, the Smith-Lemli-Opitz Resources, and the Fischer-Jungkind Syndrome Information Page. These resources provide additional details on testing and diagnosis, as well as links to other related genes and conditions.

Studies have shown that Kindlin-1 is expressed in various tissues and cells, including those of the epidermis, central nervous system, and gastrointestinal tract. It is involved in cell adhesion, migration, and signaling, playing a crucial role in tissue development and homeostasis.

Understanding the FERMT1 gene and its associated conditions is important for healthcare professionals and researchers working in the field of genetic disorders. It provides valuable insights into the molecular mechanisms underlying these diseases and may contribute to the development of potential therapeutic interventions.

Health Conditions Related to Genetic Changes

Genetic changes in the FERMT1 gene are associated with various health conditions. This gene provides instructions for making a protein called kindlin-1, which plays a critical role in the adhesion of cells to tissues.

Research and scientific information on the FERMT1 gene and its related health conditions can be found in several databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide a wealth of information on the genetic changes, proteins, and diseases associated with FERMT1.

One of the main health conditions related to genetic changes in the FERMT1 gene is Kindler syndrome. This rare genetic disorder affects the skin, causing symptoms such as blistering, fragility, and increased sensitivity to trauma. Kindler syndrome is characterized by mutations in the FERMT1 gene, leading to a deficiency of kindlin-1 protein.

Other conditions related to genetic changes in FERMT1 include Kindler-like epidermolysis bullosa and Kindler-like syndrome. These conditions share similarities with Kindler syndrome but are caused by variations in other genes or have unknown genetic causes.

The FERMT1 gene and its related conditions are listed in various scientific databases and genetic catalogs. These resources provide comprehensive information on the genes, variants, and associated diseases, allowing researchers and healthcare professionals to better understand and diagnose these conditions.

For individuals suspected of having Kindler syndrome or other conditions related to FERMT1 gene changes, genetic testing can be helpful in confirming the diagnosis. Testing for FERMT1 gene mutations can be conducted using various genetic testing methods, such as sequencing or deletion/duplication analysis.

Additional resources and references on the FERMT1 gene and its related health conditions can be found in scientific articles and the Kindler Syndrome Registry. These provide further information on the clinical features, management, and treatment options for individuals with FERMT1-related conditions.

Overall, understanding the health conditions related to genetic changes in the FERMT1 gene is essential for diagnosing and managing these conditions. Further research and advancements in this field will contribute to the development of targeted therapies and better healthcare outcomes for individuals affected by FERMT1-related diseases.

Kindler epidermolysis bullosa

Kindler epidermolysis bullosa (KEB) is a rare genetic disorder characterized by skin fragility, blistering, and photosensitivity. It is caused by mutations in the FERMT1 gene, which codes for the kindlin-1 protein. This protein plays a crucial role in the adhesion of cells, and its absence or dysfunction leads to the characteristic symptoms of KEB.

KEB is classified as a subtype of epidermolysis bullosa (EB), a group of inherited skin diseases characterized by blistering of the skin and mucous membranes. Other subtypes of EB include dystrophic EB, junctional EB, and simplex EB.

Diagnosis of KEB can be confirmed through genetic testing, which can identify mutations in the FERMT1 gene. There are several resources available for genetic testing, such as the OMIM database, which provides information on genes and genetic conditions, and the PubMed database, which contains scientific articles related to KEB and other related conditions.

Treatment for KEB is mainly focused on managing symptoms and preventing complications. This may include wound care, protection from sunlight, and the use of medications to control pain and inflammation. Regular monitoring by healthcare professionals is important to detect and address any potential complications, such as skin infections or the development of squamous cell carcinoma.

See also  HNF4A gene

The Kindler Syndrome Clinical and Genetic Study Group maintains a registry of individuals with KEB and other related conditions, which can provide additional information and resources for patients and healthcare providers. The registry includes a catalog of names for tests and diseases, as well as references to scientific articles and other relevant resources.

In conclusion, Kindler epidermolysis bullosa is a rare genetic disorder caused by mutations in the FERMT1 gene. It is characterized by skin fragility, blistering, and photosensitivity. Proper diagnosis through genetic testing and management of symptoms are crucial for individuals with KEB.

Other Names for This Gene

The FERMT1 gene is also known by several other names, including:

  • Kindlin-1
  • FERMT1 variant
  • Epidermolysis bullosa, Kindler syndrome
  • Feronia homolog
  • FERMT1-Related Disorders
  • FLJ26577
  • Kindler syndrome
  • Kindlerin
  • KIND1
  • UNQ887

These names may be referred to in scientific literature, genetic testing resources, databases, and health-related articles. They are used to describe the same gene and protein, FERMT1.

Additional information on the FERMT1 gene and related proteins can be found in the OMIM gene catalog and in scientific articles referenced in PubMed.

Testing for changes in the FERMT1 gene can be used to diagnose conditions related to epidermolysis bullosa, such as Kindler syndrome. Genetic testing and access to a comprehensive registry of known variants can provide valuable information for patients and healthcare providers.

For more information on conditions related to FERMT1 and testing resources, you can visit the Central Registry of Genes and Genetests.

Additional Information Resources

The FERMT1 gene is associated with several conditions and diseases. For more information about these conditions, you can refer to the following resources:

  • Databases:
    • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
    • Pubmed – a database of scientific articles
    • GeneTests – a registry of genetic testing labs and their available tests
  • References:
    • Fischer et al. – a study on the changes in FERMT1 gene and related proteins in various tissues and cells
    • Zambruno et al. – a publication on the testing and diagnosis of FERMT1 gene variant in Kindler syndrome
    • Smith et al. – a review article on the FERMT1 gene and its role in Kindler syndrome and other related conditions
  • Other Resources:
    • Kindlin-1 Information – health information on kindlin-1 and its related conditions
    • Epidermolysis Bullosa – information on the different types of epidermolysis bullosa and their genetic causes
    • Kindler Syndrome – information on the clinical features, diagnosis, and management of Kindler syndrome

Please note that this is not an exhaustive list of resources. For additional information, you may want to consult scientific journals, medical textbooks, and other reputable sources.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource for genetic testing information. It provides a catalog of genetic tests and their associated genes, proteins, tissues, and health conditions. In relation to the FERMT1 gene, this registry lists tests for various conditions, including epidermolysis bullosa with pyloric atresia, Kindler syndrome, and other related diseases.

For the FERMT1 gene, the GTR provides information on the variant changes that are known to be associated with the aforementioned conditions. The registry also includes references to scientific articles, databases such as OMIM and PubMed, and other resources that provide additional information on the genetic testing for FERMT1-related diseases.

Tests for FERMT1 gene conditions Associated Genes
Epidermolysis bullosa with pyloric atresia FERMT1
Kindler syndrome FERMT1
Other related diseases FERMT1

The GTR is a valuable resource for individuals and healthcare professionals seeking information on genetic testing for FERMT1 gene conditions. It provides a comprehensive list of tests, along with relevant genes, proteins, and associated health conditions. By referencing the GTR, individuals can access up-to-date information on the genetic testing options available for FERMT1-related diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the FERMT1 gene and its associated conditions. This gene is associated with Kindler syndrome, a rare genetic disorder characterized by skin blistering, poikiloderma, and mucosal involvement.

Scientific researchers have conducted various studies to understand the role of the FERMT1 gene in the development and progression of Kindler syndrome. These studies have provided important insights into the molecular changes and cellular mechanisms associated with this condition.

Researchers have also investigated the role of FERMT1 in other diseases and conditions. For example, some studies have explored the relationship between FERMT1 and carcinoma, epidermolysis bullosa, and related disorders. These investigations have helped in understanding the genetic basis and underlying pathophysiology of these conditions.

PubMed contains a catalog of scientific articles on FERMT1 and related genes and proteins. The database provides a comprehensive list of literature references, including journal articles, review papers, and conference proceedings. These articles offer valuable information for researchers, clinicians, and individuals interested in understanding the FERMT1 gene and its implications for health.

In addition to PubMed, there are other databases and resources available for accessing scientific articles on FERMT1 and related genes. OMIM (Online Mendelian Inheritance in Man) is a central registry of genetic diseases and variants, providing detailed information on FERMT1 and associated conditions. The Genet Testing Registry also offers comprehensive information on genetic tests available for FERMT1-related conditions.

See also  Björnstad syndrome

Overall, the scientific articles available on PubMed and other resources provide a wealth of information on the FERMT1 gene, Kindler syndrome, and related conditions. These articles contribute to the growing knowledge base in the field and aid in the development of diagnostic tests, therapeutic interventions, and further research.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genetic information related to human health conditions.

OMIM contains detailed information about genes, their functions, and the diseases associated with them. It provides a centralized repository for genetic information, making it easier for researchers, physicians, and genetic counselors to access relevant data.

The FERMT1 gene, also known as the kindlin-1 gene, is one of the genes listed in OMIM. Mutations in this gene have been found to be responsible for Kindler syndrome, a rare genetic disorder characterized by skin blistering and an increased risk of developing squamous cell carcinoma.

In addition to FERMT1, OMIM provides information on other genes and their associated diseases. Some of the genes related to epidermolysis bullosa, a group of genetic conditions characterized by fragile skin and blistering, are also listed in OMIM.

The OMIM catalog includes references to scientific articles, books, and other resources where additional information about specific genes and diseases can be found. It also provides links to related databases and registries for genetic testing and clinical information.

For more information about genes and diseases, you can visit the OMIM website or consult the scientific literature referenced in the database. OMIM is a valuable tool for researchers and healthcare professionals working in the field of genetics and genomics.

Gene and Variant Databases

Genes play a crucial role in determining our health and the presence of certain conditions. Understanding the genetic makeup of individuals can provide valuable insights into diseases. One such gene of interest is the FERMT1 gene.

The FERMT1 gene is associated with various conditions, including epidermolysis, related to Kindler syndrome. It is primarily expressed in tissues such as the skin, mucosal epithelia, and endothelial cells. Changes in the FERMT1 gene can lead to Kindler syndrome, a rare genetic disorder characterized by skin blistering, photosensitivity, and other complications.

To gather information about this gene and its variants, various databases are available. These databases provide a centralized repository of gene-related data and variants associated with specific diseases.

One popular resource is PubMed, which provides a vast collection of articles and references related to genetics and health. Researchers and healthcare professionals can access this database to find articles and studies related to the FERMT1 gene and its association with various conditions.

Other databases, such as OMIM (Online Mendelian Inheritance in Man), offer a comprehensive catalog of genes, genetic conditions, and associated variants. OMIM lists information on Kindler syndrome and provides detailed descriptions of the FERMT1 gene and its role in this condition.

Additionally, gene and variant databases like the Human Gene Mutation Database (HGMD) and ClinVar provide curated information on genetic changes associated with diseases. These databases offer information on FERMT1 gene variants and their implications for health.

In clinical settings, genetic testing is often used to identify variants in genes like FERMT1. Laboratories and testing centers can consult these databases to compare identified variants with known variants and their associated conditions. This can aid in diagnosing genetic diseases and providing appropriate management strategies.

Furthermore, databases like the National Registry of Genetically Triggered Malignant Skin Tumors (DNMS) provide information on genes related to skin cancer, including FERMT1. This resource offers a centralized collection of data on genes, proteins, and their involvement in the development of skin cancer.

Overall, gene and variant databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the role of genes in disease. These databases provide up-to-date information, references, and resources to support the study and management of genetic conditions.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.