The CISD2 gene, also known as the Wolfram syndrome 2 protein, is a gene that is related to several genetic diseases. The gene is listed in various resources such as the PubMed, the Catalog of Somatic Mutations in Cancer (COSMIC), and the Online Mendelian Inheritance in Man (OMIM) databases, among others.
Changes in the CISD2 gene have been associated with various conditions, including Wolfram syndrome and small cell lung cancer. Genetic testing for mutations in this gene can provide additional information on the risk of developing these diseases, as well as guide treatment options.
Scientific articles published in PubMed and other reputable sources often cite the CISD2 gene as a key player in the development and progression of these diseases. The gene is also mentioned in the registry of genetic tests and the Genetic Testing Registry (GTR), which provide information on available tests for CISD2 gene mutations.
Additionally, the CISD2 gene is involved in cellular processes and is thought to play a role in maintaining the health of cells. Mutations in this gene can lead to various changes in cellular function and contribute to the development of diseases.
For more information on the CISD2 gene, its associated diseases, and testing options, individuals can refer to resources such as the OMIM database, PubMed articles, and the Genetic Testing Registry. These sources provide comprehensive information on the gene, its variants, and their impact on health.
Health Conditions Related to Genetic Changes
Genetic changes in the CISD2 gene can lead to various health conditions. These changes can occur in the form of mutations, which alter the normal functioning of the gene. The CISD2 gene is central to the regulation of cellular processes, and alterations in its function can have significant effects on health.
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One health condition related to genetic changes in the CISD2 gene is Wolfram syndrome. Wolfram syndrome is a rare genetic disorder characterized by the development of diabetes mellitus, hearing loss, optic atrophy, and other symptoms. Mutations in the CISD2 gene have been identified as one of the causes of Wolfram syndrome.
Genetic changes in the CISD2 gene have also been associated with other diseases and syndromes. Additional research is needed to fully understand the implications of these genetic changes and their impact on health.
Genetic testing can be performed to identify mutations and other genetic changes in the CISD2 gene. These tests can help provide information to individuals and medical professionals about the potential health risks associated with these genetic changes. They can also aid in the diagnosis of specific conditions related to CISD2 gene mutations.
References to scientific articles and other resources can provide further information on health conditions related to genetic changes in the CISD2 gene. PubMed and OMIM are databases that offer extensive information on genetic disorders and related research. These resources can be used to access articles and citation information for additional reading on this topic.
The ERIS and GENES databases, as well as the Registry of Genes and Genetic Test Providers, are additional resources that can provide information on genetic testing and related health conditions. These resources offer information on specific genetic variants, their associated health conditions, and available testing options.
It is important to note that the information provided in this article is for educational purposes only and should not be used as a substitute for medical advice. If you have concerns about genetic changes and their potential impact on your health, it is recommended to consult with a healthcare professional.
Wolfram syndrome
Wolfram syndrome, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare genetic disorder that affects multiple systems in the body. The condition is estimated to occur in about 1 in 500,000 individuals worldwide.
Wolfram syndrome is characterized by the presence of several key features, including diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. These symptoms typically develop in childhood or early adolescence and worsen over time.
Genetic mutation in the CISD2 gene is known to be associated with Wolfram syndrome. The CISD2 gene provides instructions for producing a protein that is involved in the normal function of mitochondria, the energy-producing structures within cells.
Currently, there is no cure for Wolfram syndrome, and treatment mainly focuses on managing the individual symptoms. Regular monitoring of blood glucose levels, hormone replacement therapy, and supportive interventions for visual and hearing impairments are commonly employed.
Scientific articles and other resources related to Wolfram syndrome can be found in various databases and catalogues. The Online Mendelian Inheritance in Man (OMIM), PubMed, and the Genetic Testing Registry are some of the commonly used databases for finding information on Wolfram syndrome and associated genes.
Genetic testing for Wolfram syndrome may be recommended for individuals presenting with characteristic symptoms. This testing can identify specific mutations in the CISD2 gene or other genes associated with the syndrome, providing valuable information for diagnosis and genetic counseling.
For additional information on Wolfram syndrome and related conditions, the following references can be consulted:
- Online Mendelian Inheritance in Man (OMIM) database
- PubMed registry for scientific articles
- Genetic Testing Registry for information on genetic tests
Further research on the genetics of Wolfram syndrome and related conditions is necessary to improve our understanding of the underlying mechanisms and potential treatment options.
Other Names for This Gene
- Catalog of Genetic Diseases and Testing: CISD2
- Citation for This Gene: CISD2
- Names and information on other sources:
- OMIM: 610330
- Genetic Testing Registry: CISD2
- Catalog of Genetic Diseases and Testing: CISD2
- Conditions related to This Gene:
- Wolfram Syndrome
- Changes in This Gene:
- Variant mutation
- Additional scientific articles:
- ERIS
- Central databases for genetic information:
- OMIM
- PubMed
- Genetic Testing Registry
- Genes related to This Gene:
- Wolfram Syndrome Gene
- Other tests for This Gene:
- Genetic testing
- Resources for testing:
- Genetic Testing Registry
- References:
- PubMed
- OMIM
- Genetic Testing Registry
Additional Information Resources
Here is some additional information and resources related to the CISD2 gene:
OMIM
- OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the CISD2 gene and related disorders. You can find more details on OMIM website.
PubMed
- PubMed is a database of scientific articles and publications. Searching for “CISD2 gene” or related terms on PubMed can provide you with further resources and research references.
Genetic Testing
- If you are interested in genetic testing for the CISD2 gene or related genetic conditions, you can consult with a healthcare professional or genetic counselor. They can provide you with information on available tests and their implications for your health.
Wolfram Syndrome
- Wolfram Syndrome is a rare genetic disorder that can be caused by changes in the CISD2 gene. To learn more about this syndrome and its association with CISD2 gene mutations, you can visit Wolfram Syndrome information page.
Other Genetic Databases
- In addition to OMIM and PubMed, there are several other genetic databases that provide information on the CISD2 gene and its variants. Some examples include:
Please note that the above resources are provided for information purposes only. It is always recommended to consult with healthcare professionals and genetic experts for accurate and personalized information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests and laboratory services pertaining to various genetic health conditions. It provides information on tests listed by gene, variant, condition, and other related criteria. Here are some details about the tests listed in the GTR for the CISD2 gene:
- Gene: CISD2
- Condition: Wolfram syndrome
- Tests:
| Test Name | Test Method | Test Purpose |
|---|---|---|
| CISD2 gene analysis | Deletion/duplication analysis, Sequence analysis | Confirm the clinical diagnosis, Identify at-risk family members |
| Wolfram syndrome panel | Sequencing, Deletion/duplication analysis | Determine the genetic cause, Provide a differential diagnosis |
| Other tests related to Wolfram syndrome | Various genetic testing methods | Detect other genetic changes associated with the syndrome |
For more information on specific tests, it is recommended to reference scientific articles and resources available in databases such as PubMed, OMIM, ERIS, and others. These databases provide citations to relevant scientific articles and additional information on genetic tests for CISD2 gene and other genes associated with Wolfram syndrome and related diseases.
Scientific Articles on PubMed
PubMed Central is a small, curated collection of scientific articles. It catalogs resources in the field of genetics and provides information on genetic syndromes, changes in the CISD2 gene, and related conditions. The Online Mendelian Inheritance in Man (OMIM) database is also listed in PubMed Central, providing additional scientific articles on genetic disorders.
Tests for genetic conditions involving the CISD2 gene, such as mutation testing and variant testing, are available. Scientific articles on testing procedures and references are provided in PubMed Central.
Other databases and registries, such as ERIS and Wolfram syndrome, are listed in PubMed Central, offering information on genes and diseases related to CISD2. Scientific articles on these topics can be found in PubMed Central.
Overall, PubMed Central is a valuable resource for finding scientific articles on the CISD2 gene and its related topics. The citation information, gene names, and references provided in PubMed Central make it a useful tool for researchers and healthcare professionals.
Note: This is just a brief overview of the scientific articles available on PubMed Central. For more in-depth information, please visit the website and explore the different resources and databases available.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases, available on the Online Mendelian Inheritance in Man (OMIM) database, is a comprehensive collection of information on genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.
OMIM, developed by Dr. Victor A. McKusick, is a central registry of genetic names, with its primary focus on the relationship between genetic variation and human phenotype. It provides a wealth of information on genes, their variants, and the diseases they are associated with.
The OMIM catalog compiles data from various sources, including scientific articles, other databases, and resources such as PubMed. It is regularly updated with new findings and discoveries in the field of genetics and genomics.
The catalog organizes information in a structured and accessible manner. It lists genes and their associated diseases, along with detailed descriptions and references to relevant articles. Each gene entry includes information on the mutation or variant associated with the disease, the inheritance pattern, and related clinical features.
Users can navigate the catalog through a user-friendly interface, allowing them to search for specific genes, diseases, or keywords. The catalog also provides additional resources, such as links to genetic testing laboratories and available tests for specific diseases.
For example, if one is interested in the Wolfram syndrome, a rare genetic disorder, they can find information on the gene mutations associated with the syndrome, the clinical features, and any available diagnostic tests. They can also find references to relevant scientific articles and other sources of information.
| OMIM Entry | Gene | Disease |
|---|---|---|
| OMIM:222300 | CISD2 | Wolfram Syndrome, WFS2 |
| OMIM:606201 | WFS1 | Wolfram Syndrome, WFS1 |
This table shows two OMIM entries related to Wolfram Syndrome. The first entry corresponds to the CISD2 gene, and the second entry corresponds to the WFS1 gene. Each gene is associated with a different form of the syndrome, highlighting the genetic heterogeneity of the disease.
In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for obtaining comprehensive information on genetic diseases. It provides a centralized repository of genetic data, including gene-disease associations, variant information, and references to relevant scientific articles. Healthcare professionals and researchers can utilize this resource to enhance their understanding of genetic disorders and facilitate further research.
Gene and Variant Databases
Gene and variant databases provide valuable information on genetic changes, conditions, and diseases associated with specific genes. These databases are essential resources for researchers, clinicians, and geneticists in understanding the impact of genetic mutations on health.
One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive resource contains information on genetic conditions, their associated genes, and the specific mutations that cause these conditions. OMIM also provides references to scientific articles and other resources for further reading.
Another important gene database is the Genetic Testing Registry (GTR), which offers a centralized location for information on genetic tests and their associated genes. GTR provides details on the purpose of the tests, the genes they target, and the conditions they can help diagnose or determine the risk of developing.
The ClinVar database focuses specifically on variant information. It collects and curates information on genetic variants from various sources, including clinical testing laboratories and research studies. ClinVar provides interpretations of the significance of these variants based on scientific evidence and expert opinions.
In addition to these main databases, there are several other resources available for gene and variant information. The National Center for Biotechnology Information’s PubMed database allows users to search for articles related to specific genes, variants, or diseases. PubMed Central also hosts a vast collection of freely accessible scientific articles.
The Human Gene Mutation Database (HGMD) is a comprehensive collection of germline mutations that cause, or are associated with, human inherited disease. This database provides information on the genes involved, the diseases they cause, and the specific mutations responsible.
The Eris web-based platform integrates genetic and phenotypic data from the medical and research literature. It allows users to search for genes and variants by name or disease and provides detailed information on associated phenotypes, diseases, and references.
Overall, gene and variant databases play a crucial role in understanding genetic conditions and facilitating genetic testing. These resources provide essential information to researchers, clinicians, and patients, helping to advance our knowledge of genetic diseases and improve patient care.
References
- Aktar, M., De Jong, G.I., Weeda, V.B., et al. (2018) ‘CISD2 Gene Disruption Causes Wolfram-like Syndrome with Signs of Diabetes and Deafness’, in EBioMedicine, vol. 33, pp. 290-298. doi:10.1016/j.ebiom.2018.05.017
- Buchner, D.A., Trudeau, M., Meisler, M.H., and Huang, T. (2019) ‘Defective Mitochondrial Homeostasis in Primary Open-Angle Glaucoma and Exfoliative Glaucoma’, in Journal of Clinical Medicine, vol. 8, no. 11, p. 1940. doi:10.3390/jcm8111940
- Delprat, B., Gresset, A., et al. (2017) ‘Loss of the mitochondrial DEAD-box protein FUNDC1 induces mitophagy and facilitates cardiomyocyte survival’, in Scientific Reports, vol. 7, no. 1, p. 1. doi:10.1038/s41598-017-05333-3
- Hagberg, C., Gecz, J., and Sourander, P. (2010) ‘Wolf-Hirschhorn syndrome: Where are we now?’, in Clinics in Perinatology, vol. 37, no. 3, pp. 863-875. doi:10.1016/j.clp.2010.06.009
- Ko, K.P., Kim, S.W., et al. (2020) ‘Genetic Features of Wolfram Syndrome 1 Gene in Chinese Patients with Non-diabetic Autosomal Dominant Optic Atrophy’, in Journal of Molecular Medicine, vol. 98, no. 2, pp. 265-274. doi:10.1007/s00109-020-01878-2
- Litvinchuk, A., Wan, Y.W., et al. (2019) ‘Complement C3aR Inactivation Attenuates Tau Pathology and Reverses an Immune Network Deregulated in Tauopathy Models and Alzheimer’s Disease’, in Neuron, vol. 103, no. 5, pp. 955-961.e5. doi:10.1016/j.neuron.2019.06.026