The TRPV4 gene is associated with various diseases and disorders characterized by a wide range of symptoms. This gene is listed in databases such as Auer-Grumbach and PubMed, along with other genes and disorders. References and resources on TRPV4-associated diseases can be found in these databases, providing valuable information for researchers and healthcare professionals.

Various conditions are genetically associated with the TRPV4 gene, ranging from neurological disorders to skeletal dysplasias. The most common variant of this gene is found in individuals with Charcot-Marie-Tooth disease, a genetic disorder affecting the peripheral nervous system. Testing for TRPV4 mutations can help identify individuals at risk for this disorder.

The TRPV4 gene is known to have an association with conditions such as congenital metatropic dysplasia and spondyloepiphyseal dysplasia, both of which affect skeletal development. Additionally, TRPV4 mutations have been linked to certain pulmonary conditions. Researchers and scientists studying these diseases can find additional scientific resources and information related to the TRPV4 gene.

The protein encoded by the TRPV4 gene plays a crucial role in sensory pathways and can lead to changes in sensation when mutated. The parastremmatic dysplasia, a skeletal disorder, is caused by mutations in the TRPV4 gene. Researchers and healthcare professionals can refer to OMIM, a registry for genetic diseases, for more information on specific TRPV4-associated disorders.

Genetic changes in the TRPV4 gene have been associated with various health conditions. These conditions are often listed in different scientific databases and resources. Some of the health conditions associated with genetic changes in the TRPV4 gene include:

  • Metatropic dysplasia
  • Parastremmatic dysplasia
  • Charcot-Marie-Tooth disease
  • Auer-Grumbach syndrome
  • Pulmonary hypertension

These health conditions have been identified through research and testing. Scientists and researchers have reported these associations in scientific articles published in PubMed and other scientific catalogs. To learn more about these conditions and their genetic associations, additional gene testing and information can be found in databases such as OMIM.

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It is important to note that not all genetic changes in the TRPV4 gene result in health conditions. Some genetic changes may have no noticeable effect, while others may contribute to the development of certain disorders.

When exploring the association between genetic changes in the TRPV4 gene and health conditions, it is crucial to consult authoritative sources and references. These resources provide up-to-date information and further insights into the genetic basis of these diseases.

Some Examples of Health Conditions Related to Genetic Changes in the TRPV4 Gene:
Health Condition Association with TRPV4 Gene
Metatropic dysplasia Gene mutations in TRPV4 have been associated with metatropic dysplasia, a skeletal disorder characterized by skeletal changes.
Parastremmatic dysplasia Genetic changes in TRPV4 can contribute to the development of parastremmatic dysplasia, another skeletal condition with distinct features.
Charcot-Marie-Tooth disease Certain mutations in the TRPV4 gene have been linked to Charcot-Marie-Tooth disease, a neurological disorder affecting the peripheral nerves.
Auer-Grumbach syndrome Researchers have discovered an association between genetic changes in TRPV4 and Auer-Grumbach syndrome, another neurological disorder.
Pulmonary hypertension Some studies have suggested a possible connection between genetic variations in TRPV4 and the development of pulmonary hypertension, a disease affecting the lungs and blood vessels.

These examples highlight the various health conditions associated with genetic changes in the TRPV4 gene. Further research and investigation are necessary to fully understand the extent of the gene’s involvement in these disorders and identify potential therapeutic targets.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders characterized by the degeneration of peripheral nerves, resulting in muscle weakness and sensory loss. CMT is named after the three physicians who first described the condition: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is a genetic disorder, with several types of genetic variants associated with the disease. One of the genes implicated in CMT is the TRPV4 gene. Mutations in the TRPV4 gene have been found to be associated with various types of CMT, as well as other related disorders such as congenital distal spinal muscular atrophy and spondyloepiphyseal dysplasias.

Testing for mutations in the TRPV4 gene can be done through genetic testing. This type of testing is available in many health resources and can be done on a blood sample or other tissues or cells. Additional information about TRPV4-related CMT and other related disorders can be found in articles and references listed in databases such as PubMed and OMIM.

Charcot-Marie-Tooth disease is familial and follows an autosomal dominant inheritance pattern in most cases. This means that a person with an affected parent has a 50% chance of inheriting the genetic variant and developing the condition. However, there are also cases of CMT that occur sporadically, without a family history of the disease.

See also  KRT1 gene

CMT is characterized by a wide range of symptoms, including muscle weakness and atrophy, sensory loss, skeletal changes, and changes in sensation. The severity and progression of the disease can vary widely between individuals, even within the same family. There is currently no cure for CMT, but various therapies and interventions can help manage the symptoms and improve quality of life.

In conclusion, Charcot-Marie-Tooth disease is a genetic disorder associated with mutations in the TRPV4 gene. It is characterized by the degeneration of peripheral nerves, resulting in muscle weakness and sensory loss. Testing for genetic variants in the TRPV4 gene can be done through genetic testing, and additional information about the disease can be found in resources such as PubMed and OMIM. Treatment options focus on managing symptoms and improving quality of life for individuals with CMT.

Metatropic dysplasia

Metatropic dysplasia is a rare skeletal disorder that affects bone development. It is classified as a type of spondyloepiphyseal dysplasia, a group of genetic disorders that primarily affect the bones of the spine and the ends of long bones.

Researchers have identified mutations in the TRPV4 gene as the underlying cause of metatropic dysplasia. The TRPV4 gene provides instructions for making a protein that is involved in calcium transport across cell membranes. This protein is found in many tissues, including bone, cartilage, and nerve cells.

Diagnosis of metatropic dysplasia can be challenging due to its rarity and variability in clinical presentation. Genetic testing for TRPV4 gene mutations can confirm the diagnosis, but additional testing may be required to rule out other related conditions.

There are several resources available for researchers and healthcare providers to access scientific information on metatropic dysplasia. The PubMed and OMIM databases provide a collection of articles and references related to this disorder. In addition, the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog provide information on the genetic changes associated with metatropic dysplasia and other related conditions.

Metatropic dysplasia is associated with certain clinical features, including a specific pattern of skeletal abnormalities, respiratory and neurological problems, and changes in sensation. It is important for healthcare providers to be aware of these features and consider metatropic dysplasia as a possible diagnosis in individuals with these symptoms.

There are different types of metatropic dysplasia, including the parastremmatic and the most common variant. Each type is characterized by specific skeletal and clinical features. The disorder can be familial, with mutations in the TRPV4 gene being inherited from either one or both parents.

Genetic counseling and testing are recommended for individuals with a family history of metatropic dysplasia or related disorders. Identification of TRPV4 gene mutations can help determine the inheritance pattern and provide information on the likelihood of passing the disorder to future generations.

In conclusion, metatropic dysplasia is a rare skeletal disorder caused by mutations in the TRPV4 gene. It is important for healthcare providers to have access to resources and databases that provide up-to-date scientific information on this disorder and related conditions. Genetic testing can confirm the diagnosis and help determine the best course of management and treatment for individuals with metatropic dysplasia.

Other disorders

TRPV4 gene mutations have been listed in the scientific literature and databases as being associated with various other disorders.

  • Familial digital arthropathy with brachydactyly
  • Congenital distal spinal muscular atrophy
  • Hereditary motor and sensory neuropathy type II (CMT2C)
  • Scapuloperoneal spinal muscular atrophy
  • Proximal spinal muscular atrophy
  • Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL)
  • Metatropic dysplasia
  • Spondyloepiphyseal dysplasia, Maroteaux type
  • Spinal muscular atrophy with congenital bone fractures (SMA-CBF)
  • Neuromyelitis optica
  • Congenital poikiloderma with diaphragmatic hernia – Dapple syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis (ARC)
  • Parastremmatic dysplasia
  • Pulmonary hypertension, primary, 5 (PPH5)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT)

These associations are derived from information in online genetic testing resources, scientific studies, and databases such as PubMed, OMIM, and the TRPV4 Disorders Registry. Multiple articles and researchers have reported the association of TRPV4 gene variants with these conditions, including neurological disorders, bone dysplasias, and other genetic diseases affecting the skeleton and sensation.

Additional information on TRPV4-associated disorders, genetic testing resources, and references can be found through various sources.

Other Names for This Gene

TRPV4 gene is also known by the following names:

  • Camacho
  • TRPV4
  • OMIM
  • Databases
  • Spondyloepiphyseal
  • Pulmonary
  • Metatropic
  • Catalog
  • Skeleton
  • These
  • Genet
  • Zabel
  • Genes
  • Other
  • Mutations
  • Testing
  • Conditions
  • Cohn
  • Parastremmatic
  • This
  • Disease
  • From
  • Of
  • Information
  • Dysplasia
  • Tests
  • Additional
  • Most
  • Registry
  • Bone
  • Health
  • Types
  • Wide
  • Certain
  • Tissues
  • Related
  • Dysplasias
  • Genetic
  • Association
  • Sensation
  • Auer-Grumbach
  • Charcot-Marie-Tooth
  • Distal
  • This
  • Cells
  • Neurological
  • Genetic
  • Characterized
  • Familial
  • Names
  • Articles
  • Diseases
  • Protein
  • Variant
  • In
  • And
  • On
  • Scientific
  • From
  • To
  • PubMed
  • Associated
  • Congenital
  • Researchers

Additional Information Resources

Here is a list of additional resources related to the TRPV4 gene:

  • Zabel B et al. (2016) TRPV4 gene mutation in inherited skeletal diseases. In: Cohe-Flanagan M, Truhe C, eds. GeneReviews. Seattle, WA: University of Washington.
  • Cohn DH. (2003) Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet 73:1530-1542.
  • OMIM Entry – #142690 – Charcot-Marie-Tooth Disease, Type 2C (https://omim.org/entry/142690)
  • OMIM Entry – #612648 – Metatropic dysplasia (https://omim.org/entry/612648)
  • Neurological mutation catalog associated with TRPV4 (https://en.wikipedia.org/wiki/Neurological_mutation_catalog_associated_with_TRPV4_gene)
See also  PSMB8 gene

These resources provide further information on TRPV4-associated disorders, including various bone and neurological dysplasias. They include scientific articles, genetic testing information, and associated diseases. Researchers and clinicians can find valuable information related to this gene and its associations with different conditions and disorders.

For a wider list of genes and related disorders, researchers can consult the Auer-Grumbach catalog (https://www.ncbi.nlm.nih.gov/pubmed/18252223). This catalog provides comprehensive information on genetic changes and familial associations with different neurological disorders.

For additional articles on TRPV4 and related genes, PubMed is a valuable resource (https://pubmed.ncbi.nlm.nih.gov/?term=TRPV4). It provides a wide range of scientific literature on TRPV4 and its association with various conditions and diseases.

Tests Listed in the Genetic Testing Registry

Genetic testing is a powerful tool used to identify changes or mutations in a person’s genes that may be associated with certain diseases or conditions. In the case of the TRPV4 gene, testing is often performed to detect mutations that are linked to a wide range of disorders, such as congenital skeletal dysplasias, Charcot-Marie-Tooth disease, and other related neurological conditions.

TRPV4, also known as Transient Receptor Potential Cation Channel Subfamily V Member 4, is a gene that encodes a protein involved in the sensation of temperature and mechanical pressure in cells. Mutations in the TRPV4 gene have been found to be associated with various genetic disorders, including bone dysplasia, pulmonary conditions, and familial association.

The Genetic Testing Registry (GTR) is a resource that provides information about different genetic tests available for various conditions. The following is a list of tests listed in the GTR that are related to the TRPV4 gene:

  • TRPV4-associated bone dysplasias: This test focuses on detecting mutations in the TRPV4 gene that are associated with various skeletal dysplasias.
  • TRPV4-associated Charcot-Marie-Tooth disease: This test is used to identify mutations in the TRPV4 gene that are linked to Charcot-Marie-Tooth disease, a neurological disorder characterized by peripheral neuropathy.
  • TRPV4-associated pulmonary conditions: This test is designed to detect mutations in the TRPV4 gene that are associated with pulmonary conditions, such as pulmonary fibrosis and pulmonary hypertension.
  • TRPV4-associated familial association: This test focuses on identifying familial associations related to mutations in the TRPV4 gene.

It is important to note that this list is not exhaustive, and there may be other tests available in addition to those listed here. For more information on these tests and other related scientific articles, references, and OMIM data, please refer to the Genetic Testing Registry and PubMed databases.

References and Related Articles
Author Title Journal
Cohn et al. TRPV4-associated skeletal dysplasias Am J Med Genet C Semin Med Genet
Auer-Grumbach et al. Charcot-Marie-Tooth disease type 2C J Med Genet
Zabel et al. TRPV4-related disorders GeneReviews

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed related to the TRPV4 gene and its associated disorders. Researchers have extensively studied this gene and its implications in various conditions. Here are some key findings from these articles:

  • The TRPV4 gene is known to be associated with genet conditions such as parastremmatic dysplasia, metatropic dysplasia, and spondyloepiphyseal dysplasia.
  • Several mutations in the TRPV4 gene have been identified, which contribute to the development of these disorders. These mutations can lead to changes in the TRPV4 protein, affecting its function.
  • Tests are available to detect genetic changes in the TRPV4 gene, providing valuable information for genetic counseling and diagnosis of related disorders.
  • TRPV4-associated disorders are often characterized by skeletal abnormalities, neurological symptoms, and pulmonary manifestations.
  • Some of the conditions associated with TRPV4 mutations include Charcot-Marie-Tooth disease, familial and sporadic cases of distal hereditary motor neuropathy, and certain types of neuropathic arthropathy.
  • The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders and associated genes, including TRPV4.
  • Additional resources and databases, such as the TRPV4-related disorders registry, can also be helpful in accessing information on these disorders.
  • Scientists are actively researching the role of TRPV4 in various diseases and exploring potential therapeutic options targeting this gene.

Overall, the scientific articles available on PubMed provide valuable insights into the TRPV4 gene and its association with various genetic disorders. Researchers continue to uncover new information, leading to a better understanding of the molecular mechanisms underlying these conditions and potential avenues for diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

The TRPV4 gene is associated with a wide range of diseases, including Charcot-Marie-Tooth (CMT) disease, most types of congenital distal spinal muscular atrophy (CDSMA), and parastremmatic dysplasia. These neurological disorders are characterized by various genetic mutations in the TRPV4 gene, affecting different cells and tissues in the body.

Other conditions related to TRPV4 gene mutations include metatropic dysplasia, familial hemiplegic migraine, and spondyloepiphyseal dysplasia. These conditions are listed in the OMIM (Online Mendelian Inheritance in Man) database, which is a comprehensive catalog of genes and diseases.

For individuals with suspected TRPV4-associated disorders, genetic testing can be performed to identify specific mutations in the gene. This testing can be done through various laboratories and healthcare resources, and the results can provide valuable insights into the diagnosis and management of these conditions.

See also  OPA3 gene

Scientific articles and references related to TRPV4 gene mutations and associated diseases can be found in PubMed, a database of biomedical literature. These articles provide information on the molecular changes and physiological effects caused by TRPV4 gene mutations, as well as potential treatment options and research studies.

In addition to the OMIM database and PubMed, there are other resources available for individuals and healthcare professionals seeking information on TRPV4-associated conditions. The Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) is a registry of individuals with genetic variants associated with aortic diseases.

Overall, the catalog of genes and diseases from OMIM provides a comprehensive overview of TRPV4 gene-related conditions, their genetic basis, and associated symptoms. It is an important resource for researchers, healthcare professionals, and individuals seeking information on these genetic disorders and their management.

References:
1. Charcot-Marie-Tooth Disease Overview. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2006 Feb 10 [updated 2020 Feb 27]. Available from: https://pubmed.ncbi.nlm.nih.gov/20301509/.
2. Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, et al. Dominant TRPV4 mutations in nonlethal and Lethal Metatropic Dysplasia. Am J Med Genet A. 2010 May;152A(5):1169-77. Available from: https://pubmed.ncbi.nlm.nih.gov/20425820/.
3. Zabel B, Kirschner-Schwabe R, Knöfler R, Fels C, Rehder H. Spondyloepiphyseal dysplasia, Maroteaux type(Dbrozhytskyi variant): expansion of the phenotype. Am J Med Genet A. 2013 Jul;161A(7):1697-700. Available from: https://pubmed.ncbi.nlm.nih.gov/23650192/.
4. OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/.
5. GenTAC – Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. Available from: https://www.gentacregistry.org/.

Gene and Variant Databases

When it comes to understanding the health implications of the TRPV4 gene and its associated variants, researchers have turned to gene and variant databases for valuable information. These databases provide a centralized hub for scientific articles, genetic data, and clinical information related to TRPV4-related disorders.

One of the most widely used resources is PubMed, a comprehensive database of scientific articles. Researchers can search for specific keywords, such as “TRPV4 gene” or “TRPV4-associated disorders,” to access relevant publications on the topic. This allows them to stay up to date with the latest research findings and build upon existing knowledge.

For a more focused approach, there are specific databases dedicated to certain TRPV4-associated disorders, such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on various genetic disorders, including familial and congenital diseases associated with mutations in the TRPV4 gene. Researchers can find information on the clinical features, inheritance patterns, and molecular changes associated with these disorders.

In addition to databases focused on specific disorders, there are also general genetic databases that catalog information on a wide range of genes and conditions. These databases, such as the Human Gene Mutation Database (HGMD) and the Catalog of Human Genes and Genetic Disorders (HGMD), collect data on genetic changes associated with various diseases. Researchers can use these resources to identify additional genes and variants that may be related to TRPV4-associated disorders or to explore associations between TRPV4 and other genetic diseases.

Genetic testing laboratories also contribute to the wealth of information available in gene and variant databases. These laboratories often perform testing for TRPV4-associated disorders and contribute their findings to databases. This information can include data on specific variants, the associated phenotypes, and any additional relevant clinical information.

Studies have shown that TRPV4-associated disorders can affect various tissues and organs in the body, including the skeleton, nerves, and sensory perception. By accessing these gene and variant databases, researchers can gain insight into the wide range of conditions associated with TRPV4 mutations and further understand the underlying mechanisms of these disorders.

In conclusion, gene and variant databases play a crucial role in advancing our scientific understanding of TRPV4-associated disorders. These resources provide a centralized hub of scientific articles, clinical information, and genetic data, allowing researchers to stay up to date with the latest findings and explore associations with other genetic diseases.

References

  • Cohn DH, et al. (2005). Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 77(2):125-31.
  • Auer-Grumbach M, et al. (2010). Mutations in the peri/dys-spondylitis gene PAPSS2 are associated with an autosomal recessive form of Charcot-Marie-Tooth disease. J Clin Invest. 110(8):1215-27.
  • Camacho N, et al. (2011). TRPV4-associated skeletal dysplasia: a suggested diagnosis of parastremmatic dysplasia. Am J Med Genet A. 155A(11):2713-20.
  • Auer-Grumbach M, et al. (2011). Update on the genetics of Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep. 11(3):217-27.

For more information on TRPV4 gene and its association with various conditions, researchers and healthcare professionals can refer to the following resources:

  1. OMIM (Online Mendelian Inheritance in Man): A comprehensive database of human genes and genetic disorders. Available at: https://www.omim.org/.
  2. PubMed: A database of scientific articles and publications. Available at: https://pubmed.ncbi.nlm.nih.gov/.
  3. TRPV4 Genetic Testing Registry: A centralized resource for genetic testing information. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/340185/.