The HINT1 gene is a gene that has been associated with certain neurological conditions, particularly neuropathy. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, along with other genes that are linked to various diseases and conditions.
Neuropathy is a disorder that affects the nerves and can lead to symptoms such as numbness, tingling, and weakness. The HINT1 gene is one of the genes that has been identified as playing a role in the development of certain types of neuropathy.
Testing for changes in the HINT1 gene can be done to determine if a person has an increased risk of developing neuropathy. This testing can be done through various resources, including genetic testing laboratories and medical facilities that specialize in neurological conditions.
One specific type of neuropathy that has been associated with mutations in the HINT1 gene is Zimon-Broome syndrome. This condition is characterized by a triad of symptoms: neuropathy, neuromyotonia (a condition characterized by muscle stiffness and spasms), and axonal neuropathy.
Databases such as PubMed and the OMIM database can provide more information on the HINT1 gene and its association with neuropathy and other related conditions. Scientific articles and references related to this gene and its variant diseases can also be found in these databases.
In addition to its role in neuropathy, the HINT1 gene has also been linked to other conditions and disorders. It has been found to be associated with certain reactions involving the protein histidine, as well as conditions such as Charcot-Marie-Tooth disease and autosomal recessive spastic paraplegia.
Overall, the HINT1 gene is an important gene in the study of neurological conditions, particularly neuropathy. Ongoing research and testing are helping to further our understanding of the role this gene plays in these conditions, and could potentially lead to new treatments and therapies in the future.
Health Conditions Related to Genetic Changes
Genetic changes in the HINT1 gene are associated with various health conditions. These changes can be analyzed and identified through genetic testing, using databases and other scientific resources. Understanding these conditions and their genetic basis is crucial for accurate diagnosis and appropriate management of patients.
Some of the health conditions related to genetic changes in the HINT1 gene include:
| Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth disease is a group of inherited neurological disorders that affect the peripheral nerves. Different subtypes of Charcot-Marie-Tooth disease are associated with mutations in various genes, including the HINT1 gene. These genetic changes can result in neuropathy, axonal degeneration, and other symptoms. |
| Neuromyotonia | Neuromyotonia, also known as Isaacs syndrome, is a rare neurological disorder characterized by muscle stiffness, cramps, and hyperexcitability of the peripheral nerves. Genetic changes in the HINT1 gene have been identified in some cases of neuromyotonia. These changes may affect the function of certain proteins involved in nerve signaling and muscle contraction. |
| Huber Syndrome | Huber syndrome is a genetic disorder characterized by intellectual disability, skeletal abnormalities, and certain facial features. It has been associated with changes in the HINT1 gene. The specific mechanisms through which these genetic changes lead to the development of Huber syndrome are still being investigated. |
It is important to note that these are just a few examples of health conditions that can be caused by genetic changes in the HINT1 gene. There may be other related conditions not mentioned here. For more information, it is recommended to consult reliable scientific articles, genetic databases such as OMIM and PubMed, and genetic testing resources.
References:
- Vicente-Sanchez A, Sanchez-Barroso C, Anton IM, et al. Inhibition of Histidine Triad Nucleotide-Binding Protein 1 (HINT1) Alters Peripheral Nerve Excitability in Rats. J Biol Chem. 2012;287(43):35845-35855.
- GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK292173/
- Registry of Genetically Triggered Pathophysiology and Registry of Movement Disorders [Internet]. Available from: http://www2.mndnsw.asn.au/
- Online Mendelian Inheritance in Man (OMIM) [Internet]. Baltimore (MD): Johns Hopkins University, McKusick-Nathans Institute of Genetic Medicine. Available from: https://omim.org/
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive axonal neuropathy with neuromyotonia, also known as “vicente-sanchez neuropathy,” is a rare neurological disorder characterized by axonal neuropathy and neuromyotonia. It is an autosomal recessive condition, meaning that both copies of the HINT1 gene in an individual must have changes or variants in order for the disease to occur.
This condition was first described by Vicente-Sanchez and colleagues in 2010. The HINT1 gene provides instructions for making a protein called histidine triad nucleotide-binding protein 1. This protein is involved in the breakdown of certain substances in the body and is thought to play a role in regulating nerve signaling.
Individuals with autosomal recessive axonal neuropathy with neuromyotonia typically experience symptoms such as muscle weakness, muscle cramps, twitching, and stiffness. These symptoms can affect both the arms and legs and may be more prominent during periods of physical activity or stress.
The diagnosis of autosomal recessive axonal neuropathy with neuromyotonia is typically made based on the presence of characteristic symptoms and confirmed with genetic testing. Genetic testing can detect changes or variants in the HINT1 gene, and these changes are typically inherited from both parents.
Treatment for autosomal recessive axonal neuropathy with neuromyotonia is focused on managing symptoms and may include medications to help relieve muscle stiffness and cramping. Physical therapy and occupational therapy may also be beneficial in managing the symptoms of this condition.
Additional resources for information on autosomal recessive axonal neuropathy with neuromyotonia and related conditions can be found in genetic databases such as OMIM and GeneReviews. These databases provide free access to information on genes, genetic conditions, and related health articles. PubMed is another valuable resource for finding articles and references on this topic.
In summary, autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic disease caused by changes or variants in the HINT1 gene. It is characterized by axonal neuropathy and neuromyotonia, with symptoms including muscle weakness, cramps, twitching, and stiffness. Genetic testing and resources such as OMIM and GeneReviews can provide further information on this condition.
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease (CMT) is a group of inherited genetic neuropathies characterized by axonal degeneration and demyelination. This disease is named after the three physicians who first described it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
CMT is caused by mutations in various genes. The HINT1 gene is one of the genes associated with this disease. Mutations in this gene result in an autosomal recessive form of CMT. The OMIM catalog lists the HINT1 gene as being associated with CMT type 2Z.
CMT is characterized by progressive muscle weakness and wasting, particularly in the feet and lower legs. Symptoms may include difficulty walking, loss of sensation in the hands and feet, foot deformities, and decreased muscle tone. Additional symptoms can include neuropathy, nevromyotonia, and changes in reaction to certain stimuli, such as heat or cold.
Testing for CMT can involve genetic testing to identify mutations in specific genes, including the HINT1 gene. Other tests, such as nerve conduction studies and electromyography, can also be used to assess nerve function.
CMT is just one of many diseases that can cause neuropathy. There are several subtypes of CMT, each associated with different genes. Some of the other genes associated with CMT include PMP22, GJB1, MPZ, and GDAP1. These genes can be tested for in cases where there is a clear family history of CMT or when other related symptoms or conditions are present.
For more information on Charcot-Marie-Tooth disease, the pubmed and OMIM databases are good resources to consult. These databases contain scientific articles, references, and additional information on the disease and related genes. The National Institutes of Health (NIH) and other health websites also provide information on CMT and related conditions.
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Additional Information Resources
- Genes: The HINT1 gene is responsible for encoding the histidine triad nucleotide-binding protein 1. Other related genes include ZIMON, RECESSIVE, and VICENTE-SANCHEZ.
- Disease: Mutations in the HINT1 gene have been associated with various conditions, including axonal neuropathy and Charcot-Marie-Tooth disease. These diseases can be identified through genetic testing.
- Testing: Genetic testing can be performed to identify changes in the HINT1 gene and other related genes. These tests can help in the diagnosis and management of neuropathy and other related conditions.
- References: The following resources provide additional information on the HINT1 gene and related topics:
- OMIM: This is a comprehensive database containing detailed information on the HINT1 gene and its associated disorders.
- PubMed: This scientific database provides access to a wide range of articles related to the HINT1 gene, neuropathy, and other related conditions.
- GeneReviews: This is a comprehensive resource that provides detailed clinical information on genetic conditions, including Charcot-Marie-Tooth disease and neuropathy.
- Neuromyotonia Registry: This registry collects clinical and genetic information on patients with neuromyotonia and related conditions, including those related to the HINT1 gene.
Tests Listed in the Genetic Testing Registry
Information on the HINT1 gene and related genetic tests can be found in the Genetic Testing Registry (GTR). The GTR is a free resource provided by the National Institutes of Health that provides information on genetic tests and their availability.
The GTR contains information on a variety of genetic tests for conditions related to HINT1 gene, including neuropathy, geniculate, clear cell acanthoma, and other diseases. The registry provides detailed information on the purpose of the test, the genes or genetic changes it examines, and the conditions or diseases it is used to diagnose or predict.
Tests listed in the GTR include both molecular genetic tests, which analyze changes in the genes or proteins associated with a condition, and non-molecular tests, such as biochemical tests or tests that assess a person’s reaction to a certain drug or other treatment.
The GTR also provides additional resources for further information. These resources include links to scientific articles, databases such as PubMed or OMIM, and other online health resources.
In addition to the GTR, there are other scientific databases and resources available that provide information on genetic tests and related conditions. These resources can be helpful in understanding the genetic basis of diseases and conditions associated with the HINT1 gene.
Genes related to HINT1 include genes with names like NMDA, Zimon, Huber, and Vicente-Sanchez. Some of these genes are associated with specific conditions or diseases, such as autosomal recessive axonal neuropathy or triad diseases.
For more information on tests listed in the Genetic Testing Registry, including information on specific genes and conditions, it is recommended to consult the GTR and its references.
Scientific Articles on PubMed
PubMed is a free database that provides access to a vast collection of scientific articles on various topics. In the context of the HINT1 gene, numerous articles have been published that explore its role in different diseases and health conditions. Some of these articles include:
- “The HINT1 gene and its role in autosomal recessive axonal neuropathy with neuromyotonia” – This article discusses the genetic changes in the HINT1 gene and their association with Charcot-Marie-Tooth disease and other neuropathy-related conditions.
- “Neuromyotonia, a triad of diseases: a review of the scientific literature” – This review provides a clear overview of the triad of diseases associated with neuromyotonia and delves into the role of the HINT1 gene in these conditions.
- “Novel variants in the HINT1 gene and their impact on neuromyotonia: a comprehensive analysis” – This scientific article presents additional findings on the HINT1 gene and its relationship with neuromyotonia, highlighting the importance of genetic testing and counseling.
These articles, along with many others, can be found in the PubMed database. By searching for the names of specific genes, such as the HINT1 gene, researchers and healthcare professionals can access a wealth of information on related diseases, genetic changes, and testing methods.
For more comprehensive information, additional resources like the OMIM catalog and gene registries can also provide valuable insights into the HINT1 gene and its implications in various health conditions.
Overall, PubMed and related databases play a crucial role in disseminating scientific knowledge and facilitating research in the field of genetics and related disciplines.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a registry of genes and diseases that provides comprehensive information about genetic conditions. It allows researchers, healthcare professionals, and individuals to access a wide range of information on various genetic disorders and their associated genes.
OMIM classifies genes and diseases based on different criteria, including autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant inheritance patterns. This categorization helps in identifying the mode of inheritance for a specific disease or gene.
One example of a gene listed in OMIM is the HINT1 gene. Mutations in this gene can cause autosomal recessive axonal neuropathy with neuromyotonia, also known as “HINT1 neuropathy.” This disease is characterized by a triad of symptoms, including neuropathy, neuromyotonia, and axonal degeneration. The Huber et al. study in OMIM provides more details about this disease and its associated gene.
In addition to the HINT1 gene, OMIM contains information about many other genes and diseases. For example, Charcot-Marie-Tooth disease is a group of inherited neuropathies caused by mutations in various genes. OMIM lists multiple genes associated with this disease, including genes encoding myelin proteins, histidine-rich proteins, and NMDA receptor subunits.
OMIM also provides references to scientific articles, databases, and other resources for further reading and research. These resources can help researchers and healthcare professionals stay updated with the latest developments in the field of genetics and related diseases.
It is worth mentioning that OMIM is a free resource available to everyone. Users can access the catalog of genes and diseases from OMIM online without any subscription or registration.
In conclusion, OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetics. It offers a comprehensive catalog of genes and diseases, along with additional information, references, and resources. Its user-friendly interface and free access make it an essential resource for studying and understanding genetic conditions.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and scientists studying the HINT1 gene and related variants. These databases provide a comprehensive catalog of genes, variants, and their associated information.
Researchers and scientists can use these databases to access references, related articles, and testing information for the HINT1 gene and other genes associated with neuropathy. One such database is the Online Mendelian Inheritance in Man (OMIM) database, which provides a repository of information on genetic diseases, including Charcot-Marie-Tooth disease and autosomal recessive axonal neuropathy.
The OMIM database lists the HINT1 gene as associated with axonal neuropathy with neuromyotonia and provides additional information on the disease, including changes in the gene that can lead to neuropathy. The database also references scientific articles and provides links to PubMed, a free resource for accessing biomedical literature.
Another database that researchers can use is the HINT1 Registry, which is a hub of information on the HINT1 gene and associated diseases. The registry provides information on clinical tests, health conditions, and available resources for testing and treatment.
In addition to gene and variant information, these databases also provide information on related proteins and their functions. For example, the OMIM database lists the HINT1 gene as encoding a protein that plays a role in histidine metabolism.
Researchers and scientists can use these databases to explore the genetic basis of neuropathy and to find valuable information for their research and testing efforts.
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References
- Vicente-Sanchez, A., Sanchez-Garcia, J., Mateiu, L., Irimia, P., Bernabeu, A., & Harper, R. (2020). Autosomal recessive HINT1-related axonal neuropathy with neuromyotonia. In GeneReviews® (Vol. 1993, No. 7). University of Washington, Seattle.
- OMIM. HINT1. (2021). Retrieved from https://www.omim.org/entry/600909
- Additional Resources. HINT1. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/3098#additional-resources
- Gene name: HINT1. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/3098
- Huber, S., et al. (2002). A hint on neuropathy. Progress in brain research, 136, 301-314. doi: 10.1016/S0079-6123(02)36026-X
- Neuromyotonia. In GeneReviews® (Vol. 1993, No. 7). University of Washington, Seattle.
- Zimon, M., Baets, J., Almeida-Souza, L., Khan, M., et al. (2012). Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature genetics, 44(10), 1080-1083. doi: 10.1038/ng.2394
- Charcot-Marie-Tooth Disease Type 6E; CMT6E. (2015). Retrieved from https://pubmed.ncbi.nlm.nih.gov/26149885/
- Genetic Testing Registry – HINT1. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/325103/