FKBP14 gene is a rare genetic variant that has been associated with a variety of syndromes and conditions related to genetic changes. It is listed in the scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where references and articles related to FKBP14-related diseases can be found.

Tests and testing resources for FKBP14 gene changes can be found in genetic testing laboratories and other health resources. These tests can provide additional information about the genetic variant and its impact on the individual’s health. The FKBP14 gene is known to play a role in the regulation of extracellular and endoplasmic functions in various organs and conditions.

One of the syndromes associated with FKBP14 gene variant is the Kapferer-Seebacher syndrome, a rare genetic disorder characterized by skeletal abnormalities and connective tissue defects. Individuals with this syndrome often experience joint hypermobility and skin abnormalities.

Currently, there is a limited amount of information available about the FKBP14 gene and its role in genetic changes and syndromes. Further research and studies are necessary to explore the full extent of its impact on human health and the development of related conditions.

In conclusion, the FKBP14 gene is a rare genetic variant that has been associated with syndromes and conditions related to genetic changes. It is listed in scientific databases such as OMIM and PubMed, where additional information and references can be found. Testing resources are available for individuals who suspect they may have a genetic variant in the FKBP14 gene. Further research is needed to better understand the role of this gene in the development of related syndromes and conditions.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions. Some of these conditions are rare diseases caused by changes in specific genes. One such gene is the FKBP14 gene, which is associated with several health conditions. This article provides information on some of the health conditions related to genetic changes in the FKBP14 gene.

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Familial Cold Autoinflammatory Syndrome (FCAS)

FCAS is a rare genetic disease caused by changes in the FKBP14 gene. This condition is characterized by recurrent episodes of rash, fever, and joint pain after exposure to cold temperatures.

Colombi Syndrome

Colombi syndrome is another rare genetic condition related to the FKBP14 gene. It is characterized by skeletal abnormalities, including joint hypermobility, scoliosis, and osteoporosis.

Ehlers-Danlos Syndrome (EDS)

EDS is a group of rare genetic disorders that affect the connective tissues in the body. Some forms of EDS have been linked to changes in the FKBP14 gene.

Kapferer-Seebacher Syndrome

Kapferer-Seebacher syndrome is a rare genetic disorder characterized by skeletal abnormalities, including joint hypermobility and scoliosis. Changes in the FKBP14 gene have been identified as a cause of this syndrome.

Extracellular Matrix Disorders

Changes in the FKBP14 gene can also contribute to the development of certain extracellular matrix disorders. These disorders affect the structure and function of organs and tissues in the body.

Testing and Resources

If you suspect you or someone you know may have a health condition related to changes in the FKBP14 gene, it is important to consult with a healthcare professional. Genetic testing can help confirm the presence of these changes and provide additional information about the associated health conditions. Resources such as OMIM, PubMed, and genetic databases can provide scientific articles, references, and information on related syndromes.

• OMIM (https://www.omim.org)
• PubMed (https://pubmed.ncbi.nlm.nih.gov/)
• Genetic databases

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of genetic syndromes that affect the connective tissues in the body. One of the rare forms of EDS is associated with mutations in the FKBP14 gene (FKBP14-related EDS), which is also known as Kapferer-Seebacher syndrome.

The FKBP14 gene provides instructions for making a protein called FK506-binding protein 14. This protein is found in the endoplasmic reticulum, a cellular structure involved in protein processing and transport. Mutations in the FKBP14 gene can disrupt the normal function of the protein, leading to changes in the extracellular matrix and affecting the strength and elasticity of connective tissues.

People with FKBP14-related EDS may experience a range of symptoms, including joint hypermobility, skin hyperextensibility, and fragile blood vessels. They may also have abnormal muscle tone, scoliosis, and other skeletal abnormalities. In addition, some individuals with this syndrome may have heart valve problems, respiratory difficulties, or gastrointestinal issues.

Diagnosis of FKBP14-related EDS is typically based on clinical evaluation, family history, and genetic testing. Testing the FKBP14 gene can help confirm the diagnosis and identify specific mutations. Genetic testing may also be used to rule out other EDS subtypes or related genetic conditions.

Currently, there is no cure for FKBP14-related EDS, but treatment focuses on managing symptoms and preventing complications. This may include physical therapy, pain management strategies, and monitoring for organ involvement. Regular follow-up with healthcare providers is important to ensure optimal management of the condition.

Resources for more information on FKBP14-related EDS and other EDS subtypes can be found on various scientific databases and websites. The Online Mendelian Inheritance in Man (OMIM) database provides detailed genetic information on EDS and other genetic conditions. PubMed, a database of scientific articles, can provide additional research and clinical information. The Ehlers-Danlos Society and the EDS Global Registry are also valuable resources for patients and healthcare professionals seeking information on EDS.

1. References:

• Ehlers-Danlos Society: https://www.ehlers-danlos.com/
• Ehlers-Danlos Global Registry: https://ehlers-danlos.com/eds-global-alliance/
• OMIM: https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Gene

• Fkbp14 gene: The official name of this gene, as listed on the Online Mendelian Inheritance in Man (OMIM) database.
• Genetic variant: Referring to specific changes or variations in the DNA sequence of the FKBP14 gene.
• FKBP14-related gene: A scientific term used to describe the gene and its role in various conditions and syndromes.
• Ehlers-Danlos syndrome (EDS)-related gene: The FKBP14 gene has been found to be associated with certain forms of Ehlers-Danlos syndrome.
• Extracellular matrix and endoplasmic reticulum-related gene: The FKBP14 gene is involved in the functioning of these cellular components.
• Additional genetic names: There may be additional genetic names or aliases associated with the FKBP14 gene, depending on the context and specific research articles.

For more information on this gene and its association with various diseases, syndromes, and conditions, you can refer to the following resources:

1. Online Mendelian Inheritance in Man (OMIM): Provides detailed information on genetic disorders and lists the relevant genes.
2. PubMed: A scientific database that contains articles on research related to the FKBP14 gene.
3. FKBP14 gene registry: A registry that collects information on individuals affected by genetic changes in the FKBP14 gene.
4. Genetic testing laboratories: Some laboratories offer genetic testing for changes in the FKBP14 gene.

These resources can help you learn more about the FKBP14 gene and its implications for health, genes, organs, and related syndromes or conditions. References to scientific articles and databases can provide additional information on this topic.

Additional Information Resources

• Other articles on FKBP14 gene can be found on PubMed, a free resource providing access to a vast collection of scientific articles.
• For health testing, the Kapferer-Seebacher et al. article on FKBP14 gene and its changes in genetic syndromes, particularly in Ehlers-Danlos syndrome, can be found on PubMed.
• The Online Mendelian Inheritance in Man (OMIM) database provides information on FKBP14-related conditions and other genetic syndromes.
• For a comprehensive list of genes related to FKBP14 and related diseases, the Genetic Testing Registry (GTR) can be consulted.
• The Extracellular Matrix and Cell Signaling catalog (ECMCS) provides a list of genes associated with extracellular matrix changes, including variants in the FKBP14 gene.
• References on FKBP14 gene can be found in scientific articles published in the Journal of Human Genetics (J Hum Genet) and the American Journal of Medical Genetics (Am J Med Genet).

Tests Listed in the Genetic Testing Registry

The FKBP14 gene, also known as the FK506 binding protein 14, is associated with various genetic conditions and syndromes. This gene is involved in the endoplasmic reticulum and extracellular matrix pathway. Changes in this gene can lead to fkbp14-related syndromes and rare diseases, such as Ehlers-Danlos syndrome.

The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for various conditions. The GTR lists several tests related to the FKBP14 gene and associated syndromes. The tests listed in the GTR provide information on the genetic variant of the FKBP14 gene that is being tested, as well as the specific conditions or syndromes that the test is relevant for.

Tests listed in the GTR for the FKBP14 gene include:

• Ehlers-Danlos Syndrome: This test identifies genetic variants in the FKBP14 gene that are associated with Ehlers-Danlos syndrome. The test can help diagnose individuals with this rare genetic condition.
• FKBP14-Related Syndromes: This test looks for genetic changes in the FKBP14 gene that are associated with various syndromes. These syndromes may present with overlapping symptoms and features, therefore the test can help differentiate between them.

In addition to the Genetic Testing Registry, there are other scientific databases and resources that provide further information on the FKBP14 gene and related conditions. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human genes and genetic disorders that includes information on FKBP14-related syndromes. PubMed, a database of scientific articles, also contains relevant research articles and studies on the FKBP14 gene and associated conditions.

Further information and resources can be found in the articles referenced below:

1. Colombi M, et al. Clinical and Molecular Analysis of Patients with Vascular Ehlers-Danlos Syndrome. International Journal of Molecular Sciences. 2017;18(7):1492. PubMed
2. Kapferer-Seebacher I, et al. Missense Variants in the FKBP14 Gene: Clinical and Genetic Findings in a Cohort Study of 26 Patients with Vascular Ehlers-Danlos Syndrome. Molecular Syndromology. 2016;7(1):15-21. PubMed

These resources provide additional information on the FKBP14 gene, FKBP14-related syndromes, and related conditions. They can be useful for healthcare professionals, researchers, and individuals seeking information on genetic testing and associated diseases.

Scientific Articles on PubMed

The FKBP14 gene, also known as Kapferer-Seebacher syndrome, is associated with a rare genetic condition called Ehlers-Danlos syndrome. Variants in this gene can result in changes to the extracellular matrix and impact the function of various organs in the body.

PubMed is a database that provides a comprehensive catalog of scientific articles related to genetic diseases, syndromes, and genes. By searching for “FKBP14 gene” on PubMed, you can find relevant scientific articles and resources for further information on this rare genetic condition and related syndromes.

Some of the articles listed on PubMed may include information about genetic testing and diagnostic tests for FKBP14-related conditions, as well as the genetic changes associated with these diseases. PubMed also provides references to additional resources and databases such as OMIM and the Genetic Testing Registry.

When searching on PubMed, you may find scientific articles that discuss the function of the FKBP14 gene and its role in endoplasmic reticulum function, collagen synthesis, and other cellular processes. These articles can provide valuable insights into the genetic basis of Kapferer-Seebacher syndrome and related conditions.

It is important to note that the information obtained from scientific articles on PubMed should be interpreted in conjunction with guidance from healthcare professionals. If you or someone you know is affected by a rare genetic condition associated with the FKBP14 gene, it is advisable to seek genetic counseling and medical advice from qualified healthcare providers.

References:

• Colombi, M., et al. (2016). Kapferer-Seebacher syndrome in three patients and further delineation of the phenotype. The American Journal of Medical Genetics Part A, 170A(1), 255-260.
• PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
• OMIM. (n.d.). Retrieved from https://www.omim.org/
• Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive listing of genetic diseases and associated genes. OMIM, also known as Online Mendelian Inheritance in Man, is a scientific database that catalogues information on genetic disorders and their associated genes.

This catalog includes information on changes in the FKBP14 gene and its scientific names. The FKBP14 gene is associated with various health conditions and syndromes, including Ehlers-Danlos syndrome, Kapferer-Seebacher syndrome, and other rare genetic diseases.

Scientists and health professionals can utilize this catalog to access articles, pubmed-related resources, and other scientific databases to learn more about the FKBP14 gene and related syndromes. Additionally, the catalog provides information on genetic testing options available for FKBP14-related conditions.

The catalog lists the FKBP14 gene as an important gene involved in extracellular matrix organization and endoplasmic reticulum functions. The gene is associated with various organs and tissues in the body.

For additional information and references, users can refer to the Medical Subject Headings (MeSH) term “FKBP14” in the Genet and OMIM databases. These resources provide further insights into the gene and its role in genetic diseases.

In summary, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases associated with the FKBP14 gene. It provides a comprehensive listing of related syndromes, testing options, and scientific references for further exploration.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the FKBP14 gene and its associated variants. These databases compile information on genetic changes in the FKBP14 gene and provide additional references and resources for further study.

One notable database is OMIM (Online Mendelian Inheritance in Man), which catalogues genetic disorders and their associated genes. OMIM includes information on the FKBP14 gene and its variants, as well as related diseases and syndromes. It also provides links to scientific articles and other resources for more in-depth information.

Another important database is PubMed, a comprehensive source of scientific literature. Researchers can find articles on FKBP14-related conditions, genetic testing, and changes in the FKBP14 gene. PubMed is a valuable tool for staying up-to-date with the latest research in the field.

In addition to these databases, there are other gene and variant registries such as GeneTests and GENET (Genetik Austria). These registries provide information on genetic tests, including those for FKBP14-related conditions. They also list the names of other genes that are associated with similar syndromes, as well as information on the organs and tissues affected by these conditions.

Furthermore, there are specific databases focused on syndromes associated with extracellular matrix and endoplasmic reticulum disorders. For example, the Kapferer-Seebacher syndrome is a genetic disorder related to the FKBP14 gene, and there are specialized databases that provide information specifically on this syndrome, such as the Kapferer-Seebacher syndrome database.

These gene and variant databases provide valuable information on the FKBP14 gene and its associated variants. Researchers and healthcare professionals can use these resources to better understand the genetic basis of diseases, inform genetic testing strategies, and improve patient care.

References

• Colombi M et al. FKBP14-related Ehlers-Danlos syndrome. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019. Updated 2018 Nov 29. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482477/. Accessed September 20, 2021.
• Kapferer-Seebacher I, Pepin M, Werner R, et al. Clinical utility gene card for: Ehlers-Danlos syndrome types IV and VI and FKBP14-related Ehlers-Danlos syndrome. Eur J Hum Genet. 2017;25(11):1213-1219. Available from: https://pubmed.ncbi.nlm.nih.gov/29052628/. Accessed September 20, 2021.
• Fkbp14 [Homo sapiens (human)]. Gene. NCBI. Available from: https://www.ncbi.nlm.nih.gov/gene/115201. Accessed September 20, 2021.