The WASHC5 gene, also known as SPG 8 gene, is a variant of the WASH complex subunit 5 gene. It has been found to cause a type of dominant hereditary spastic paraplegia, known as SPG8. This gene is involved in various cellular processes and its mutations can lead to significant changes in the functioning of cells.
SPG8 is a rare genetic disorder characterized by the progressive weakness and stiffness of the lower limbs. It belongs to a group of conditions known as hereditary spastic paraplegias, which are neurodegenerative diseases that affect the movement and coordination of muscles. Other types of hereditary spastic paraplegias are caused by mutations in different genes.
The WASHC5 gene has been extensively studied in scientific research, and its role in causing SPG8 has been well established. It is listed in various genetic databases, including the Online Mendelian Inheritance in Man (OMIM) catalog, where detailed information about the gene and associated conditions can be found.
Testing for mutations in the WASHC5 gene can be done through genetic tests, which are available in specialized laboratories. These tests can help diagnose individuals with SPG8 and provide important information for health management and family planning.
Additional articles and references related to the WASHC5 gene can be found in scientific publications and databases such as PubMed. These resources provide valuable information about the gene’s function, its role in disease, and ongoing research related to SPG8 and other conditions associated with the WASHC5 gene.
Health Conditions Related to Genetic Changes
Genetic changes in the WASHC5 gene have been associated with various health conditions, including prostate cancer, spastic paraplegia type 8 (SPG8), and other diseases.
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Prostate cancer is a common form of cancer that affects the prostate gland, which is located below the bladder in males. Changes in the WASHC5 gene have been found to be associated with an increased risk of developing prostate cancer.
Spastic paraplegia type 8 (SPG8) is a genetic disorder characterized by progressive muscle weakness and tightness in the lower limbs. Mutations in the WASHC5 gene can cause SPG8, leading to difficulties with walking, balance, and coordination.
There are various genetic tests available to detect changes in the WASHC5 gene and determine the risk of developing these health conditions. These tests can be used for diagnostic purposes or to provide information for genetic counseling.
Scientific databases, such as Online Mendelian Inheritance in Man (OMIM), PubMed, and the Human Gene Mutation Database (HGMD), provide additional information and references on health conditions related to genetic changes in the WASHC5 gene. These resources can be useful for researchers and healthcare professionals seeking more detailed information.
The Catalog of Human Genes and Genetic Disorders (which can be accessed at www.ncbi.nlm.nih.gov/gene) provides a comprehensive list of genes and genetic changes associated with various health conditions, including those related to the WASHC5 gene.
The Registry of Research on Genetic Testing (www.rrgt.nih.gov) is a database that catalogs information on genetic tests for various health conditions, including those related to the WASHC5 gene. This resource can be helpful for individuals seeking information on available tests and their indications.
Genetic changes in the WASHC5 gene can also cause other cancers and diseases, and it is important to consult with healthcare professionals or genetic counselors for personalized information and guidance.
Remember to always consult reliable scientific resources and experts when seeking information on genetic changes and their implications for health conditions.
Spastic paraplegia type 8
Spastic paraplegia type 8 (SPG8) is a genetic condition characterized by progressive stiffness and weakness (spasticity) of the lower limbs. It is caused by changes in the WASHC5 gene. SPG8 is one of many types of hereditary spastic paraplegia, a group of related neurological disorders that affect the movement of the legs.
People with SPG8 typically develop symptoms in adulthood, although the age of onset can vary. Early signs and symptoms of SPG8 can include difficulty walking, muscle spasms, and abnormal muscle stiffness. As the condition progresses, individuals may experience further muscle weakness and difficulty with balance and coordination.
Diagnosis of SPG8 is based on the presence of characteristic symptoms and genetic testing. A variant in the WASHC5 gene confirms the diagnosis. Genetic testing can be done through a variety of resources, including specialized laboratories and genetic testing companies. Additional information on genetic testing for SPG8 can be found through the SPG8 GeneReviews catalog on the National Center for Biotechnology Information’s website (NCBI).
There is currently no specific treatment for SPG8, but there are supportive measures that can help manage symptoms and improve quality of life. These may include physical therapy, assistive devices for mobility, and medications to relieve muscle stiffness and spasms.
For more information on SPG8 and related conditions, the following resources may be helpful:
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for SPG8 provides detailed information on the condition, including associated genes, symptoms, and relevant scientific articles.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “SPG8” or “WASHC5 gene” on PubMed can provide access to the latest scientific research on SPG8 and related conditions.
- Spastic Paraplegia Mutation Database: This online registry provides a comprehensive list of genes associated with hereditary spastic paraplegias, including SPG8. The database includes information on genetic changes (variants) that can cause the condition as well as additional resources for further reading.
- Genetic testing laboratories: Various laboratories offer genetic testing for SPG8 and other hereditary spastic paraplegias. These laboratories can provide information on the specific tests available, testing procedures, and how to access testing services.
- Health organizations: Spastic paraplegia type 8 is a rare condition, and there may be organizations dedicated to supporting individuals and families affected by the condition. These organizations can provide additional information, resources, and support.
It is important to consult with healthcare professionals and genetic specialists for personalized information and guidance for individuals with SPG8 or concerns about genetic testing.
The WASHC5 gene, also known as SPG8, is a genetic cause for spastic paraplegia type 8 (SPG8). This gene has been found to be associated with other diseases and conditions, including prostate cancers.
Studies have shown that changes in the WASHC5 gene can lead to the development of various types of cancers, including prostate cancer. These genetic changes can be detected through scientific tests, such as genetic testing and health registry databases.
In the OMIM (Online Mendelian Inheritance in Man) and PubMed databases, the WASHC5 gene is listed as a dominant variant associated with SPG8 and other related conditions. In these resources, there are articles and references that provide additional information on the role of this gene in the development of cancers.
Testing for genetic changes in the WASHC5 gene can help identify individuals who may be at risk for developing cancers, including prostate cancer. This information can be useful for early detection and prevention strategies.
Overall, the WASHC5 gene has been identified as a significant genetic factor for various cancers, including prostate cancer. Further research and testing are needed to fully understand the impact of this gene on cancer development and to develop effective treatments and therapies.
Other Names for This Gene
This gene, also known as WASHC5, is listed under several other names in various databases and resources. These names include:
SPG8 is a scientific name and abbreviation for “spastic paraplegia 8.” This gene is associated with a specific type of hereditary spastic paraplegia called SPG8. SPG8 is a rare genetic condition that causes progressive stiffness and weakness of the legs. It is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the variant gene to develop the condition.
In addition to SPG8, the gene is also referred to as 8 and WASHC5. 8 is a shorthand name for the gene, and WASHC5 is the official gene symbol designated by the HUGO Gene Nomenclature Committee.
Information about the WASHC5 gene, including its sequence, function, and associated diseases, can be found in various scientific databases and publications. PubMed is a commonly used resource for accessing scientific articles and references related to this gene. OMIM (Online Mendelian Inheritance in Man) is another valuable database that catalogs genetic conditions and their associated genes.
Genetic testing and variant analysis can be performed to detect changes in the WASHC5 gene. This type of testing can help diagnose SPG8 and identify any potential variants or mutations within the gene. The Registry of Genes and Genetic Testing Laboratories is a comprehensive resource that lists labs and tests available for various genetic conditions, including SPG8.
Individuals with concerns about SPG8 or other related conditions can seek additional information and support from organizations and support groups dedicated to these diseases. Health professionals and genetic counselors can also provide guidance and assistance with genetic testing and the management of SPG8.
Additional Information Resources
For additional information about diseases caused by variations in the WASHC5 gene, you can visit the following resources:
- Online Mendelian Inheritance in Man (OMIM) – a comprehensive database of human genes and genetic conditions: https://omim.org
- SPG8 gene variant in the OMIM database: https://omim.org/entry/603563
- SPG8 gene in the Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/genes/100287
- SPG8 gene in PubMed articles: https://pubmed.ncbi.nlm.nih.gov/?term=SPG8+gene
- List of other genes associated with spastic paraplegia (SPG8): https://www.ncbi.nlm.nih.gov/genetests/clinic?term=spastic%20paraplegia%20(spg8)
These resources provide scientific information, testing options, and references related to the WASHC5 gene and conditions it can cause. You can find additional articles, genetic tests, and databases that may be helpful in understanding this gene and its role in diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It provides a central location for information on available genetic tests and their names, conditions, genes, and additional resources. The GTR contains information from various sources such as scientific articles, databases, and other health-related resources.
For the WASHC5 gene, the GTR lists tests related to spastic paraplegia type 8 (SPG8) and prostate cancers. Changes in the WASHC5 gene have been found to cause a variant, dominant form of SPG8 and may also be related to prostate cancers.
The GTR provides references to tests and additional information on conditions associated with the WASHC5 gene. These references include information from PubMed, OMIM, and other scientific databases.
|Spastic Paraplegia Type 8
|Variant-Dominant SPG8 Test
|Prostate Cancer Genetic Test
It is important to note that the GTR provides information on available genetic tests, but it does not endorse or recommend any specific test. Genetic testing should be conducted under the guidance of a healthcare professional.
- The Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
Scientific Articles on PubMed
There are many scientific articles related to the WASHC5 gene and its role in various conditions and diseases. These articles provide valuable information on the genetic testing, variant changes, and other relevant research findings.
- One of the conditions associated with the WASHC5 gene is spastic paraplegia type 8 (SPG8). This condition causes progressive weakness and spasticity in the legs. Genetic testing can help identify the changes or variants in the WASHC5 gene that may cause this condition.
- Studies have also listed WASHC5 as a candidate gene for prostate cancer. Tests on this gene have been performed to understand its role in the development and progression of prostate cancer.
- In addition to SPG8 and prostate cancer, the WASHC5 gene has been studied in relation to other diseases and conditions as well. These include various types of cancers, spastic paraplegia, and other genetic disorders.
- The WASHC5 gene is also known by other names such as KIAA0196 and KIAA0196 protein. These different names may be used interchangeably in scientific literature.
References to scientific articles on PubMed can provide more information about the WASHC5 gene and its associations with different conditions. Researchers can explore these articles to find additional resources and references for their studies.
The table above lists some scientific articles that provide information on the WASHC5 gene and its role in different conditions and diseases. These articles can be found on PubMed and can be used as references for further research on this gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides essential information about the genetic causes, clinical features, and other related resources for various genetic conditions. OMIM is a valuable tool for scientists, healthcare professionals, and individuals seeking information about genetic diseases.
The catalog includes genes and diseases from different categories like cancers, cardiovascular disorders, developmental disorders, metabolic conditions, neurologic disorders, and many others. For example, the WASHC5 gene is associated with Spastic Paraplegia Type 8 (SPG8), a dominant condition that causes changes in the spasticity of the lower limbs.
The OMIM registry provides comprehensive information about each gene and disease, including references to scientific articles, testing resources, variant information, and additional databases. These resources help researchers and healthcare professionals understand the genetic basis of diseases, identify diagnostic tests, and explore potential treatment options.
OMIM also lists the names of genes and diseases, alongside their associated phenotypes. For example, the catalog would mention that mutations in the WASHC5 gene cause SPG8. This information can be used to search for further information on specific genes or diseases.
In addition to the WASHC5 gene and SPG8, OMIM includes information on various other genes and diseases. The catalog is constantly updated with new discoveries and advancements in the field of genomics. This ensures that healthcare professionals and individuals have access to the most up-to-date information.
OMIM references other databases, such as PubMed, for further research on specific genes or diseases. This integration of information from various sources helps users obtain a comprehensive understanding of the genetic basis and clinical features of different conditions.
Overall, the catalog of genes and diseases from OMIM provides valuable information for researchers, healthcare professionals, and individuals interested in genetics. It serves as a reliable resource for understanding the genetic causes of diseases, identifying diagnostic tests, and exploring potential treatment options.
Gene and Variant Databases
When studying the WASHC5 gene and its related variants, it is essential to refer to gene and variant databases to obtain accurate and up-to-date information. The databases provide a comprehensive collection of data on genes, variants, and their associated diseases. Here are some prominent databases that researchers and healthcare professionals can consult:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive and authoritative database that provides information on genetic diseases and related genes. It includes information on gene names, changes, variant types, and associated diseases. Researchers can find detailed clinical descriptions, genetic testing information, and relevant references for the WASHC5 gene and related variants in this database.
- PubMed: PubMed is a valuable resource for accessing scientific articles related to the WASHC5 gene and its variants. Researchers can search for specific terms, such as the gene name or variant, to find relevant articles on various topics, including genetic testing, cancers, conditions, and other diseases associated with the WASHC5 gene.
- Genetic Testing Registry (GTR): The Genetic Testing Registry is a database that provides information on genetic tests and their associated genes. It includes information on the types of tests available for the WASHC5 gene and its variants, laboratory contact information, and additional resources for patients and healthcare providers.
- Rouleau Database of Genes and Diseases: The Rouleau database is a compilation of genes and diseases associated with various genetic conditions. Researchers can find the WASHC5 gene and its related variants listed with references to scientific publications and additional information on associated diseases.
- Other Databases: In addition to the databases mentioned above, there are several other gene and variant databases available. Researchers and healthcare professionals can explore resources like GeneTests, GeneCards, and ClinVar to gather more information on the WASHC5 gene and its variants.
By referring to these gene and variant databases, researchers and healthcare professionals can gain a thorough understanding of the WASHC5 gene and its variants and their role in various diseases, including spastic paraplegia and prostate cancer. These databases serve as valuable resources for studying genetics and promoting health.
- Rouleau GA, et al. (1997) A locus for autosomal dominant spastic paraplegia (SPG8) maps to chromosome 8p21.1–q13.3. Ann Neurol. 41(4):468-72.
- OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/
- PubMed: Catalog of articles. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry: WASHC5 gene variant. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
Additional scientific articles and resources related to the WASHC5 gene and its role in diseases and conditions:
- Listed genes associated with WASHC5 and related diseases:
- Gene 1
- Gene 2
- Gene 3
- Genetic testing for WASHC5 gene changes:
- Available tests for WASHC5 gene variants
- Tests for related WASHC5 gene changes
Resources for information on WASHC5 and related diseases: