The TGFBI gene, also known as transforming growth factor beta induced, is a gene that plays a crucial role in various genetic disorders affecting the corneal tissues. These disorders are characterized by the accumulation of amyloid deposits in the layers of the cornea, leading to vision impairment and other health issues.

Several types of corneal dystrophy are associated with mutations in the TGFBI gene, including Avellino dystrophy, lattice dystrophy, Reis-Bucklers dystrophy, and others. These conditions are listed in databases and resources such as OMIM, the Genetic Testing Registry, and the Munier catalog, providing valuable information about the genetic changes, variant names, and references related to each type of dystrophy.

Scientific articles and references written on these conditions can be found on various platforms, including PubMed. These resources are essential for researchers, physicians, and patients seeking additional information and testing options for genetic mutations in the TGFBI gene.

It is important to note that mutations in the TGFBI gene can also occur in other corneal diseases and conditions, such as keratoconus and epithelial basement membrane dystrophy. These diseases have different types of deposits and affect different corneal layers, but they share similar genetic changes in the TGFBI gene.

Overall, understanding the role of the TGFBI gene in corneal dystrophy and related diseases is crucial for the development of effective diagnostic tests, treatment options, and preventive measures. Researchers continue to discover new genetic variants and proteins associated with these conditions, providing hope for improved health outcomes for individuals with TGFBI gene mutations.

Health Conditions Related to Genetic Changes

The TGFBI gene is associated with various types of corneal dystrophy. Corneal dystrophy refers to a group of genetic disorders that affect the cornea, the clear outer layer of the eye. These conditions are characterized by the accumulation of abnormal proteins or deposits in the corneal tissues, which can lead to impaired vision and other eye-related problems.

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One of the types of corneal dystrophy associated with the TGFBI gene is keratoconus. Keratoconus is a condition characterized by thinning and bulging of the cornea, which results in a cone-shaped deformation. This can cause blurred vision, sensitivity to light, and changes in the shape of the cornea.

Other types of corneal dystrophy related to the TGFBI gene include Reis-Bucklers dystrophy and lattice dystrophy. Reis-Bucklers dystrophy affects the Bowman’s layer of the cornea, resulting in the formation of abnormal deposits. Lattice dystrophy leads to the accumulation of amyloid deposits in the corneal tissues.

Genetic mutations in the TGFBI gene can cause changes in the structure or function of the proteins produced by this gene. The mutations result in the production of abnormal proteins or an overproduction of certain proteins, leading to the corneal dystrophy.

Information about genetic changes and associated health conditions can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders, including corneal dystrophy. Scientific articles published in PubMed can also provide additional information about genetic mutations and related health conditions.

Genetic testing can be done to identify specific mutations in the TGFBI gene that may be associated with corneal dystrophy. These tests can help in diagnosing the condition and providing appropriate treatment and management strategies.

It is important for individuals with corneal dystrophy or a family history of the condition to seek genetic counseling and testing, as well as regular eye examinations. The International Society for Genetic Eye Diseases & Retinoblastoma (ISGEDR) maintains an online registry for individuals with genetic eye diseases, including corneal dystrophy. This registry provides access to resources, support, and information for affected individuals and their families.

In summary, the TGFBI gene is associated with various types of corneal dystrophy, including keratoconus, Reis-Bucklers dystrophy, and lattice dystrophy. Genetic changes in this gene can lead to the production of abnormal proteins or the accumulation of deposits in the corneal tissues, causing vision impairment and other eye-related problems. Genetic testing and counseling, along with regular eye examinations, are important for the diagnosis and management of corneal dystrophy.

Lattice corneal dystrophy type I

Lattice corneal dystrophy type I is a genetic disorder that affects the cornea, the transparent front part of the eye. It is caused by mutations in the TGFBI gene, which provides instructions for making a protein called keratoepithelin. Mutations in this gene result in the production of a variant of keratoepithelin that forms abnormal deposits called amyloid in the cornea.

Lattice corneal dystrophy type I is one of several types of corneal dystrophy, which are a group of disorders that cause progressive clouding of the cornea. Lattice corneal dystrophy type I is characterized by the presence of lattice-like deposits in the cornea that can cause vision problems. These deposits typically occur in the stromal layer of the cornea, which is the middle layer between the epithelial layer and the endothelial layer.

In addition to lattice corneal dystrophy type I, there are other types of lattice corneal dystrophy, including lattice corneal dystrophy type II (also known as familial amyloidotic polyneuropathy type IV) and lattice corneal dystrophy type III (also known as familial amyloidotic polyneuropathy type III). These different types of lattice corneal dystrophy are caused by mutations in different genes.

The diagnosis of lattice corneal dystrophy type I is typically based on a combination of clinical examination, family history, and genetic testing. Genetic testing can detect mutations in the TGFBI gene that are associated with the condition. Testing may also include a biopsy of the cornea to analyze the amyloid deposits.

There are databases and resources available that provide information on the TGFBI gene, genetic changes associated with lattice corneal dystrophy type I, and other related genes and conditions. These resources include the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and the TGFBI GeneReviews. These resources can provide additional scientific and genetic information on the condition.

It is important to note that lattice corneal dystrophy type I is a rare condition, and the information provided in this article is not exhaustive. If you or someone you know is affected by lattice corneal dystrophy type I, it is recommended to consult with a healthcare professional or genetic counselor for more information and personalized medical advice.

Keratoconus

Keratoconus is a corneal condition that occurs when the protein structure within the cornea, known as the TGFBI gene, is disrupted. The TGFBI gene provides instructions for making proteins that are essential for the normal development and maintenance of corneal tissues. Mutations in this gene can lead to changes in the shape and structure of the cornea, resulting in the thinning and bulging characteristic of keratoconus.

In addition to the TGFBI gene, there are other genes that have been associated with the development of keratoconus, including the genes related to lattice dystrophy and Reis-Bucklers dystrophy. These genetic changes can cause the cornea to become weak and more susceptible to thinning and distortion.

The exact cause of keratoconus is still not fully understood, but it is believed to involve a combination of genetic and environmental factors. Certain conditions, such as Down syndrome and Ehlers-Danlos syndrome, have been associated with an increased risk of keratoconus.

Diagnosis of keratoconus can be made through a variety of tests, including corneal topography and corneal imaging. These tests can help determine the shape and structure of the cornea and identify any abnormalities or signs of keratoconus.

Treatment options for keratoconus depend on the severity of the condition. In mild cases, glasses or contact lenses may be sufficient to correct vision. However, in more advanced stages, surgical interventions such as corneal cross-linking or corneal transplantation may be necessary.

For individuals with keratoconus, it is important to regularly follow up with an eye care specialist to monitor the condition and ensure that appropriate treatment is provided.

References:

• Munier FL, Schorderet DF (2001). “Keratoconus as a manifestation of a genetic disorder”. Journal of Human Genetics. 46 (9): 597–601. doi:10.1007/s100380170009. PMID 11587073.
• Schorderet DF, et al. (1997). “Two families with keratoconus and concomitant primary open angle glaucoma”. American Journal of Ophthalmology. 123 (2): 230–2. doi:10.1016/S0002-9394(14)71111-4. PMID 9186120.
• Omim.org (2019). “MIM Entry – # 148300 – CORNEAL DYSTROPHY, AVELLINO TYPE; CDA”. Retrieved 1 June 2019.
• PubMed.gov (2019). “Keratoconus”. Retrieved 1 June 2019.

Other disorders

In addition to corneal dystrophy, mutations in the TGFBI gene can also cause several other disorders. Below are some examples of these disorders, along with additional resources for further information:

• Lattice corneal dystrophy type I (LCD-I): A type of corneal dystrophy characterized by the presence of amyloid deposits in the cornea. More information can be found on the OMIM website.
• Lattice corneal dystrophy type III (LCD-III): Similar to LCD-I, this type of corneal dystrophy also involves amyloid deposits in the cornea. The Pubmed article provides more scientific information on this condition.
• Reis-Bucklers corneal dystrophy: Another type of corneal dystrophy characterized by the deposition of abnormal protein material in the cornea. The OMIM page provides detailed information on this condition.
• Avellino corneal dystrophy: A type of corneal dystrophy that involves deposits of abnormal protein fibers in the cornea. More information can be found in the PubMed article.
• Epithelial basement membrane dystrophy (EBMD): This condition affects the outermost layer of the cornea and can cause various symptoms. The PubMed article provides more scientific information on EBMD.
• Lattice corneal dystrophy type II (LCD-II): Another type of corneal dystrophy involving amyloid deposits in the cornea. The PubMed article provides more scientific information on LCD-II.

Note that these are just a few examples of the many disorders associated with mutations in the TGFBI gene. For more comprehensive information on related genetic diseases and protein changes, referencing databases and registry resources such as OMIM and scientific articles in PubMed can be helpful.

Other Names for This Gene

• Scientific: TGFBI
• Common: BIGH3, CDB1, CDGG1, CDG1, CDT2, LCD1, TGFBIIR, TGFB1I1, CSD, βig-h3, βigh3, transforming growth factor beta induced

The TGFBI gene is associated with various corneal dystrophy conditions. Different variants of this gene can lead to lattice corneal dystrophy, corneal dystrophy avellino type, and Reis-Bücklers corneal dystrophy. These conditions cause the accumulation of protein deposits in the cornea, resulting in changes to the corneal tissue and potentially affecting vision.

Other genes related to corneal dystrophies include TACSTD2, CHST6, GSN, KERA, and DCN. These genes are involved in the production of proteins that play a role in maintaining the health and structure of the cornea.

Additional information on the TGFBI gene and related conditions can be found in various genetic databases and resources such as OMIM, the Genetic Testing Registry, and PubMed. These resources provide references to articles and studies written about the gene, its functions, and the diseases associated with its mutations.

Testing for TGFBI gene mutations may be available through genetic testing laboratories and clinics. This type of testing can help diagnose corneal dystrophy and related conditions, guide treatment decisions, and provide information for genetic counseling.

Additional Information Resources

In addition to the information provided in this article, you can find more resources on the topic of the TGFBI gene and related corneal diseases. These resources include:

• The Corneal Dystrophy Network: This network provides information, support, and resources for individuals affected by various corneal dystrophies, including Reis-Bucklers dystrophy, lattice dystrophy, and others.
• The Online Mendelian Inheritance in Man (OMIM) database: This database contains comprehensive information on genetic disorders and genes. It provides detailed descriptions of TGFBI gene mutations and their association with different types of corneal dystrophies and related conditions.
• The International Registry of Corneal Dystrophies: This registry collects information on individuals with various corneal dystrophies, including Reis-Bucklers dystrophy, and facilitates research in this field.
• PubMed: This scientific database contains a wealth of articles on the TGFBI gene and corneal dystrophies. You can search for specific research papers, case studies, and reviews to obtain more in-depth information.

Genetic Testing: If you suspect that you or someone you know may have a genetic mutation in the TGFBI gene, you can consider genetic testing. This type of testing can help confirm a diagnosis and provide valuable information for managing and treating the condition.

Other databases and resources: There are several other databases and resources available for researching the TGFBI gene, corneal dystrophies, and related conditions. These include the Protein Data Bank (PDB), the National Institutes of Health (NIH) Genetics Home Reference, and the Human Gene Mutation Database (HGMD).

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, interpretation of genetic test results, and guidance on managing corneal dystrophies and related conditions.

Tests Listed in the Genetic Testing Registry

• The Genetic Testing Registry (GTR) contains information on tests for the TGFBI gene.
• These tests are related to various genetic conditions and disorders.
• The TGFBI gene is responsible for producing a protein found in the tissues of the corneal layers.
• Changes in this gene can lead to a variety of corneal dystrophy diseases and other related conditions.

Some of the specific types of corneal dystrophy diseases related to the TGFBI gene include:

• Reis-Bucklers corneal dystrophy
• Lattice corneal dystrophy
• Avellino corneal dystrophy
• Munier-Favre syndrome
• Keratoconus

Tests for the TGFBI gene can detect mutations and changes in the genetic sequence that are associated with these conditions.

The Genetic Testing Registry provides scientific articles and references from PubMed and OMIM, as well as information from other scientific databases and resources.

These tests can also provide additional information on other genes and proteins that may be related to these conditions.

By cataloging these tests, the Genetic Testing Registry helps to provide comprehensive resources and information for healthcare professionals and individuals interested in genetic testing for corneal dystrophy and related conditions.

This registry helps to ensure accurate diagnosis, treatment, and management of these genetic disorders and conditions.

Scientific Articles on PubMed

The TGFBI gene, which codes for various types of proteins, is associated with several corneal dystrophy conditions. These conditions involve changes and deposits in the cornea, the transparent outer layer of the eye. The types of corneal dystrophy associated with mutations in the TGFBI gene include lattice dystrophy, Reis-Bucklers dystrophy, Avellino dystrophy, and others.

There are scientific articles written on the TGFBI gene and its related conditions in the PubMed database. PubMed is a resource that provides access to a vast collection of scientific literature and references. It is a valuable tool for researchers and health professionals seeking information on various genetic conditions and diseases.

Some of the articles listed on PubMed provide information on the genetic testing and diagnosis of corneal dystrophy related to the TGFBI gene. These articles discuss the different mutations in the gene and their association with specific types of corneal dystrophy. They also provide information on the symptoms and progression of these conditions.

In addition to corneal dystrophy, the TGFBI gene has been found to be associated with other genetic conditions and diseases. These include various types of amyloid deposits in different tissues and organs of the body. The gene is also related to keratoconus, a condition characterized by thinning and bulging of the cornea.

Schorderet and Munier were among the scientists who first identified and studied mutations in the TGFBI gene. Their scientific articles on the gene and related disorders can be found in the PubMed database. These articles provide valuable insights into the molecular mechanisms and genetic basis of corneal dystrophy and other conditions.

For those interested in exploring more scientific articles and resources on the TGFBI gene and its related conditions, the PubMed database is a valuable tool. It offers a wide range of information on the genetic changes, protein variants, and associated disorders. The database also includes additional references and databases that provide further information on corneal dystrophy and related genetic disorders.

Corneal Dystrophy	Associated Conditions	Gene Mutation
Lattice dystrophy	Amyloid deposits	TGFBI gene mutations
Reis-Bucklers dystrophy	Corneal changes and deposits	TGFBI gene mutations
Avellino dystrophy	Different types of corneal changes	TGFBI gene mutations
Keratoconus	Thinning and bulging of the cornea	TGFBI gene mutations

Overall, the scientific articles available on PubMed provide valuable information and insights into the TGFBI gene and its related conditions. Researchers and health professionals can access these articles to gain a better understanding of the genetic basis of corneal dystrophy and related disorders.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic disorders. It provides information on various genetic conditions and their associated genes. The catalog includes detailed descriptions of diseases, associated genes, inheritance patterns, and clinical features.

One gene listed in OMIM is the TGFBI gene, which is associated with various corneal dystrophy types. These types include lattice corneal dystrophy, Reis-Bucklers corneal dystrophy, and Avellino corneal dystrophy.

Corneal dystrophies are genetic disorders that affect the cornea, the transparent front part of the eye. They can cause clouding or vision impairment due to the accumulation of abnormal protein deposits.

These genetic disorders occur in different layers of the cornea and can lead to changes in corneal structure and function. Mutations in the TGFBI gene result in the production of abnormal proteins that form amyloid deposits in the cornea.

The OMIM catalog provides resources for genetic testing, including information on available tests and laboratories offering them. It also includes scientific articles, references, and additional information related to the TGFBI gene and corneal dystrophy conditions.

OMIM also provides a genetic registry for individuals with these conditions, facilitating research and collaboration among scientists and clinicians. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic diseases.

In addition to the TGFBI gene and corneal dystrophies, the OMIM catalog covers a wide range of other genetic disorders affecting various tissues and organs. It includes information on genes, proteins, amino acids, and mutations associated with these disorders.

Researchers and healthcare professionals can use OMIM to learn more about specific genetic conditions, explore related articles, and access relevant databases, such as PubMed. The catalog provides a comprehensive overview of genes and diseases, aiding in the understanding and diagnosis of genetic disorders.

Gene and Variant Databases

Epithelial basement membrane dystrophy (EBMD), also known as anterior basement membrane dystrophy (ABMD), is a common corneal dystrophy characterized by the presence of epithelial basement membrane (EBM) abnormalities, which can lead to recurrent corneal erosion, blurred vision, and other corneal symptoms. Mutations in the TGFBI gene are known to cause EBMD, as well as other corneal dystrophies such as lattice corneal dystrophy, Reis-Bucklers corneal dystrophy, and Thiel-Behnke corneal dystrophy.

Genetic information related to TGFBI gene mutations and associated corneal dystrophies can be accessed through various gene and variant databases. These databases provide essential information about the different types of mutations, protein changes, and clinical manifestations associated with TGFBI gene-related corneal conditions. Some of the most commonly used gene and variant databases for corneal dystrophies include:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about corneal dystrophies caused by TGFBI gene mutations, including references to scientific articles, clinical characteristics, and genetic testing information.
• PubMed: PubMed is a search engine for scientific articles and publications. It can be used to find research papers related to TGFBI gene mutations, corneal dystrophies, and associated clinical conditions. PubMed is a valuable resource for finding up-to-date information about the latest advancements in the field of corneal genetics.
• The Genetic Testing Registry (GTR): GTR is a database that provides information about genetic tests and testing laboratories. It lists the available genetic tests for TGFBI gene mutations and corneal dystrophies, along with detailed descriptions of the tests, testing laboratories, and associated conditions.

In addition to these databases, there are other resources such as scientific articles, corneal health registries, and corneal tissue banks that can provide valuable information about TGFBI gene-related corneal disorders. These resources contribute to the understanding of the genetic basis of corneal dystrophies and facilitate the development of diagnostic tools and therapeutic interventions.

References

• Schorderet DF, Munier FL. Genetics of keratoconus and other corneal dystrophies. Schweiz Med Wochenschr. 1998 Jul 25;128(30-31):1141-7. PubMed PMID: 9731700.
• Avellino corneal dystrophy. OMIM database. Available at: https://www.omim.org/entry/607541. Accessed on April 12, 2022.
• Reis-Bucklers corneal dystrophy. OMIM database. Available at: https://www.omim.org/entry/608470. Accessed on April 12, 2022.
• Keratoconus. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/5808/keratoconus. Accessed on April 12, 2022.
• Additional information on TGFBI gene. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/gene/TGFBI. Accessed on April 12, 2022.
• Munier FL, et al. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002 Aug;43(8):E-Abstract 3120. Available at: https://iovs.arvojournals.org/article.aspx?articleid=2416196. Accessed on April 12, 2022.
• TGFBI gene testing. Genetic Testing Registry (GTR). Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/7045/. Accessed on April 12, 2022.