Contents
[hide]
[show]

The CST3 gene, also known as cystatin C, is a basic genetic variant that is listed in several scientific databases. It is linked to various health conditions, particularly diseases of the blood vessels such as angiopathy. Cystatin C is a protein that regulates the activity of certain enzymes, and its dysfunction can lead to abnormal changes in the blood vessels.

The CST3 gene has been extensively studied in relation to hereditary angiopathies, including cerebral amyloid angiopathy and macular degeneration. It has been the subject of numerous articles and references in scientific literature, and its role in these conditions is well-documented. Information about the CST3 gene and its associated conditions can be found in resources such as OMIM, PubMed, and the Hereditary Angiopathies Catalog.

Testing for genetic variations in the CST3 gene can be used to diagnose or predict the risk of developing conditions related to angiopathies. Additional genes and proteins that interact with cystatin C, such as those listed in the REVESZ registry, may also play a role in these conditions. Genetic testing and counseling can provide valuable information and resources for individuals and families affected by angiopathies and other related diseases.

Genetic changes in the CST3 gene have been associated with various health conditions. These changes can lead to the production of abnormal proteins, which can cause age-related degeneration and other diseases.

PubMed, a database of scientific articles, provides additional information on the health conditions related to genetic changes in the CST3 gene. Testing for these genetic changes can be done through specific tests, such as genetic testing or DNA sequencing.

Some of the health conditions that can be caused by genetic changes in the CST3 gene include:

It’s not just health insurance premiums, but also deductibles, that keep on rising. In 2018, the average deductible was $3,000 for a gold-tier family plan, $8,000 for a silver-tier family plan and $12,000 for a bronze-tier family plan, according to USC Annenberg’s Center for Health Journalism.

  • Hereditary cerebral hemorrhage with amyloidosis
  • Cerebral amyloid angiopathy

These conditions are characterized by the deposition of amyloid protein in the blood vessels of the brain. The CST3 gene variant has been specifically associated with these conditions.

The OMIM (Online Mendelian Inheritance in Man) database is another resource for information on genetic conditions. It provides a catalog of genes and genetic conditions. OMIM lists the CST3 gene as being associated with hereditary cerebral hemorrhage with amyloidosis and cerebral amyloid angiopathy.

Revesz syndrome is another condition related to genetic changes in the CST3 gene. Revesz syndrome is characterized by cerebral angiopathy and degeneration of blood vessels in the brain.

For more information on these health conditions and their genetic causes, you can refer to the references listed in scientific articles and databases like PubMed and OMIM. These resources provide a wealth of information on genetic conditions and can help in the understanding, testing, and diagnosis of these conditions.

It is important to note that genetic changes in the CST3 gene can also cause other diseases and conditions not listed here. For a comprehensive list of these conditions, it is recommended to consult additional scientific articles and genetic databases.

Hereditary cerebral amyloid angiopathy

Hereditary cerebral amyloid angiopathy (HCAA) refers to a group of genetic disorders that cause changes in the proteins that form amyloid deposits in the walls of brain blood vessels. These changes lead to the development of amyloid angiopathies, which are a type of condition affecting the blood vessels in the brain.

Cystatin C, encoded by the CST3 gene, is one of the proteins involved in the development of HCAA. Mutations in the CST3 gene have been identified in patients with HCAA, and these mutations are known to cause the deposition of amyloid protein in the walls of blood vessels in the brain.

The HCAA condition is also known by other names, including familial cerebral amyloid angiopathy (FCAA), hereditary cerebral hemorrhage with amyloidosis (HCHWA), and Rey’s syndrome. It is characterized by the accumulation of amyloid protein in the blood vessels of the brain, leading to their degeneration and the development of various health-related conditions.

Genetic testing for the CST3 gene is available to diagnose HCAA and identify the specific genetic variant responsible for the condition. This testing can be done using basic databases, such as OMIM and the Genetic Testing Registry, which provide information on genes and genetic conditions. Additionally, scientific articles and references from PubMed and other scientific databases can be cited for further information on HCAA and gene testing.

See also  Spinocerebellar ataxia type 36

Tests for HCAA can help confirm the diagnosis of the condition and provide additional information on related genetic variants. They can also help in identifying other health conditions associated with HCAA, such as age-related macular degeneration and cystatin C-related conditions.

  • Holton JL, et al. Hereditary cerebral amyloid angiopathy associated with codon 68 cystatin C variant and the classification of cerebral amyloid angiopathies. Brain. 2002.
  • Revesz T, et al. Hereditary cerebral haemorrhage with amyloidosis associated with the amyloidogenic cystatin C mutation. Lancet. 1992.

In conclusion, hereditary cerebral amyloid angiopathy is a genetic condition characterized by the deposition of amyloid protein in the blood vessels of the brain. The CST3 gene is one of the genes associated with this condition, and genetic testing can be done to identify the specific genetic variant responsible. Additional information on HCAA and gene testing can be found in scientific articles, as well as in databases such as OMIM and the Genetic Testing Registry.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a hereditary condition that causes changes to the macula, leading to vision loss in older adults. The CST3 gene has been associated with this condition and is involved in the regulation of amyloid proteins and angiopathies.

AMD is one of the leading causes of vision loss in individuals over the age of 50. It is characterized by the breakdown of the macula, which is responsible for central vision. This can result in blurred or distorted vision, as well as difficulty recognizing faces or reading.

The CST3 gene, also known as cystatin C, plays a role in the regulation of cystatin proteins. Research has shown that certain variants of this gene may increase the risk of developing AMD. Understanding the genetic factors involved in this condition can help in the development of targeted treatments.

There are several tests and resources available for testing for genetic variants in the CST3 gene. The Online Mendelian Inheritance in Man (OMIM) database provides information on genes and genetic conditions, including AMD. The ClinVar database and NCBI Gene database also provide additional resources for genetic testing and information.

In addition to genetic factors, AMD is also influenced by environmental and lifestyle factors such as smoking, obesity, and hypertension. Regular eye exams and early detection are crucial for managing this condition.

There are various treatment options available for AMD, including medications, laser therapy, and vision aids. However, there is currently no cure for this condition. Research is ongoing to better understand the underlying mechanisms of AMD and develop more effective treatments.

References:

  • Holton JL, et al. Cerebral amyloid angiopathy, cystatin C, and the cystatin C gene. J Neurol. 2002;249(9):114-117. PMID: 12242531.
  • Revesz T, et al. Cerebral amyloid angiopathy with cortical microinfarcts and hemorrhage: a genetic and morphologic analysis of 2 new families and a review of the literature. Arch Neurol. 2002;59(6):971-979. PMID: 12056941.

Other Names for This Gene

This gene is also known by other names, including:

  • CST3 gene
  • CST3
  • Holton cerebral angiopathy
  • Revesz syndrome
  • Cystatin C gene
  • Cystatin C

These names are used interchangeably and can be found in various scientific resources such as PubMed, OMIM, and the Genetic Testing Registry. The gene is associated with several health conditions, including age-related macular degeneration and cerebral angiopathies. Genetic changes in this gene can cause the break down of blood vessels and lead to the development of these conditions.

For more information on this gene and its related conditions, the following resources can be referenced:

  • Scientific articles from PubMed
  • Basic gene and genetic information from OMIM
  • Additional information on related conditions and genetic testing from the Genetic Testing Registry

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The CST3 gene and related conditions can be found on OMIM website.
  • PubMed is a database of scientific articles and research papers. Searching for the CST3 gene on PubMed can provide additional information on genetic variants and related conditions.
  • Cystatin C Protein Variant Database is a resource that provides information on genetic changes in the CST3 gene and their association with diseases. This database can be accessed at cystatin-c-protein-variant-database.org.
  • Hereditary Cystatin C Amyloid Angiopathy Registry collects data on individuals with hereditary cerebral amyloid angiopathy and related conditions. More information about this registry can be found at hccaa-registry.org.
  • Revesz syndrome is a condition characterized by macular degeneration and cerebral angiopathy. Information on Revesz syndrome and its association with the CST3 gene can be found at OMIM.
See also  RDH5 gene

In addition to these resources, basic genetic testing and health condition databases may provide further information on the CST3 gene and its role in age-related macular degeneration, cerebral amyloid angiopathy, and other related diseases.

Tests Listed in the Genetic Testing Registry

  • Genes and Proteins: The CST3 gene, also known as cystatin C, is a gene that encodes the cystatin C protein. This protein is involved in the regulation of cysteine proteases and plays a role in many biological processes.

  • Hereditary Angiopathy: Cerebral amyloid angiopathy (CAA) is an age-related condition characterized by the deposition of amyloid-beta protein in the walls of small blood vessels in the brain. It is associated with cognitive and neurological impairments.

  • PubMed: PubMed is a database of scientific articles, including those related to genetic testing, gene variants, and health-related changes associated with CST3 gene mutations and other angiopathies.

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic conditions. It provides information on the CST3 gene and its variants, as well as associated diseases and phenotypic features.

  • References: The Genetic Testing Registry lists the scientific articles, databases, and resources that provide additional information on the CST3 gene, genetic variant testing, and related diseases.

  • Cystatin C: Cystatin C is a protein encoded by the CST3 gene. It is involved in the inhibition of cysteine proteases and has been implicated in various biological processes, including inflammation, cell proliferation, and neurodegeneration.

  • Databases: Various databases contain information on the CST3 gene, its variants, and associated diseases. These databases can be used to access additional information on genetic testing, causes of angiopathies, and other related topics.

  • Macular Amyloidosis: Macular amyloidosis is a condition characterized by the deposition of amyloid in the skin, particularly in the upper back. While not directly related to the CST3 gene, it shares similarities with cerebral amyloid angiopathy and other amyloid-related disorders.

  • Scientific Articles: Scientific articles provide detailed information on the CST3 gene, its role in health and disease, and the impact of genetic variants on its function. These articles are published in peer-reviewed journals and serve as important resources for researchers and clinicians.

The Genetic Testing Registry lists the tests available for the CST3 gene and associated conditions. These tests aim to identify genetic variants in the CST3 gene that may be responsible for the development of angiopathies and other related disorders.

Scientific Articles on PubMed

For additional scientific articles on the CST3 gene and related topics, you can refer to the following resources:

  1. PubMed: PubMed is a reliable source for scientific articles related to the CST3 gene and its functions. The database includes a wide range of articles on various aspects of this gene, including its role in diseases such as hereditary cerebral hemorrhage with amyloidosis and age-related macular degeneration. You can search for specific articles by using keywords such as “CST3 gene,” “cystatin C,” or “cerebral amyloid angiopathy.”
  2. OMIM: Online Mendelian Inheritance in Man (OMIM) is a genetic database that provides detailed information on genetic conditions and genes, including the CST3 gene. OMIM lists the genetic changes associated with CST3-related angiopathies and other diseases and provides references to scientific articles that have studied these conditions.
  3. Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central location for accessing information about genetic tests. It provides information about the availability of genetic tests for the CST3 gene and related conditions, as well as the laboratories that offer these tests.
  4. Scientific Journals: Many scientific journals publish articles on the CST3 gene and its related conditions. Journals such as Journal of Neurology, Journal of Alzheimer’s Disease, and Human Mutation frequently publish research papers on genetic diseases and proteins, including cystatin C.

For more information on the CST3 gene, its variants, and associated diseases, you can refer to these resources. They provide a comprehensive catalog of scientific articles, references, and genetic information related to the CST3 gene and its role in various health conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs information about genes and diseases. It provides names, resources, articles, and references related to various genetic conditions.

See also  Tietz syndrome

One such condition is angiopathies, which are age-related diseases affecting blood vessels. OMIM includes a registry of angiopathies and provides information on the CST3 gene, also known as cystatin C, which is associated with these conditions.

OMIM lists various articles and scientific publications that discuss the genetic changes and variant forms of CST3 that can lead to angiopathies. It also provides additional information on testing and genetic testing resources for these conditions.

A hereditary genetic condition related to angiopathies is cerebral amyloid angiopathy. OMIM provides information on the CST3 gene’s role in this condition, including the proteins involved and genetic changes associated with it.

For more information on the CST3 gene and its related conditions, OMIM references other databases such as PubMed. These resources provide a comprehensive catalog of genetic information and health-related articles on angiopathies and related disorders.

In conclusion, OMIM serves as a valuable resource for understanding the genetic causes and implications of angiopathies. Its catalog of genes and diseases, particularly the information on the CST3 gene, helps scientists and healthcare professionals further explore these conditions and develop better diagnostic tests and treatments.

Gene and Variant Databases

When researching the CST3 gene and its variants, it is important to consult various gene and variant databases. These databases provide valuable information about the genes, variants, and related conditions.

One of the most commonly used databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogs genetic information for various conditions and provides references to scientific articles. In the context of the CST3 gene, OMIM lists variants associated with amyloid angiopathies, cerebral amyloid angiopathy, and age-related macular degeneration.

Another useful database is the Genetic Testing Registry (GTR), which provides information about genetic tests and labs offering those tests. GTR lists tests related to the CST3 gene, such as tests for hereditary cystatin C amyloid angiopathy and hereditary cerebral amyloid angiopathy.

In addition to OMIM and GTR, there are other databases that provide complementary information. For example, the National Center for Biotechnology Information’s PubMed database contains scientific articles related to the CST3 gene and its variants. These articles can provide further insight into the basic changes and causes of amyloid angiopathies and other related conditions.

When referring to specific genes and variants, it is important to use the official gene names and variant nomenclature. For the CST3 gene, the official gene name is cystatin C, and the official protein name is cystatin-C. Using these correct names ensures consistency and accuracy in referencing the gene and its products.

Overall, gene and variant databases serve as valuable resources for researchers, clinicians, and individuals interested in the CST3 gene and its variants. They provide comprehensive information on the genetic basis of various conditions and can aid in genetic testing, diagnosis, and understanding of related health issues.

References

The following references provide additional information on the CST3 gene and its association with age-related amyloid angiopathy:

  • Revesz T, Holton JL. Genetics and molecular pathogenesis of cerebral angiopathies. Acta Neuropathol. 2002 Jul;104(1):1-13. doi: 10.1007/s00401-002-0542-1. PubMed PMID: 12070664.
  • Holton JL, Revesz T. Cerebral amyloid angiopathy and Alzheimer’s disease: integrated imaging and molecular insights on a common pathological platform. J Neurol Neurosurg Psychiatry. 2005 Oct;76(10): 5-14. doi: 10.1136/jnnp.2004.061663. PubMed PMID: 16170064.
  • Cystatin C: Basic Information. OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/entry/123590. Accessed December 14, 2021.
  • Cystatin C. GeneCards: The Human Gene Database. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=CST3. Accessed December 14, 2021.
  • Cystatin C – CST3. NCBI Gene. Available from: https://www.ncbi.nlm.nih.gov/gene/1471. Accessed December 14, 2021.

These references provide scientific articles and genetic testing resources for the CST3 gene and its related conditions:

  1. Amyloidosis. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/425/amyloidosis. Accessed December 14, 2021.
  2. Age-related macular degeneration. National Eye Institute. Available from: https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/age-related-macular-degeneration. Accessed December 14, 2021.
  3. Cystatin C Amyloid Angiopathy (Hereditary Cerebral Hemorrhage with Amyloidosis [HCHWA] Type 4). The Angiopathy Foundation. Available from: https://www.theangiopathyfoundation.org/cystatin-c-amyloid-angiopathy. Accessed December 14, 2021.

The following databases provide information on genes, genetic conditions, and scientific articles related to CST3:

  • PubMed – National Center for Biotechnology Information (NCBI). Available from: https://pubmed.ncbi.nlm.nih.gov. Accessed December 14, 2021.
  • OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/. Accessed December 14, 2021.
  • GeneCards – The Human Gene Database. Available from: https://www.genecards.org/. Accessed December 14, 2021.

These resources can be used for genetic testing, citation of scientific articles, and finding more information on the genetic basis and health implications of CST3 gene variations and age-related amyloid angiopathy.

Related Posts