The EPG5 gene provides instructions for making a protein that is involved in the process of autophagy, which is a normal process by which a cell recycles its own components to maintain its health and function. Autophagy is particularly important in cells that have high energy demands, such as brain cells.
Changes (mutations) in the EPG5 gene can cause EPG5-related Vici syndrome. This condition is characterized by a combination of brain abnormalities, impaired growth, blood problems, and a weakened immune system. The signs and symptoms of EPG5-related Vici syndrome can vary widely, even among affected individuals in the same family.
This description of the EPG5 gene is based on information from the EPG5 gene catalog, scientific articles, and other genetic databases such as OMIM. Additional information about genes and genetic testing can be found from resources listed on the Genetic Testing Registry website.
For a comprehensive list of genetic changes and related genes associated with EPG5-related Vici syndrome, please refer to the OMIM entry on Vici syndrome. PubMed provides a list of journal articles on Vici syndrome that can be accessed for free. Many of the articles are in English, although some are available in other languages.
Health Conditions Related to Genetic Changes
Genetic changes in the EPG5 gene have been found to be associated with various health conditions. These conditions are often referred to by different names, reflecting the different aspects of the disease or syndrome that they represent.
One such condition is known as Dionisi-Vici syndrome, which is listed in the OMIM catalog under the entry number #614,859. This syndrome is a rare genetic disorder that affects multiple systems in the body, including the brain, muscles, and immune system.
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Scientific articles and research papers related to the EPG5 gene and its associated health conditions can be found in various databases, such as PubMed and PubMed Central. These resources provide valuable information on the genetic changes, symptoms, diagnostic testing, and treatment options for these conditions.
Additional resources for genetic testing and information on related diseases and proteins can be found in databases such as GeneTests and Protein Data Bank. These resources can help healthcare professionals and researchers better understand the role of the EPG5 gene and its variants in disease development and progression.
The EPG5 gene is known to play a role in various biological reactions and processes in the body. Genetic changes in this gene can lead to a disruption in these processes, resulting in the development of specific health conditions.
Listed below are some health conditions related to genetic changes in the EPG5 gene:
- Dionisi-Vici syndrome
- Brain disorders
- Neurodegenerative diseases
- Immune system abnormalities
- Muscle weakness and atrophy
Further information and references for these conditions can be found in the scientific literature and medical resources mentioned above.
| Resources | Website |
|---|---|
| OMIM | www.omim.org |
| PubMed | www.ncbi.nlm.nih.gov/pubmed |
| PubMed Central | www.ncbi.nlm.nih.gov/pmc |
| GeneTests | www.genetests.org |
| Protein Data Bank | www.rcsb.org/pdb |
Vici syndrome
Vici syndrome is a rare genetic disorder characterized by a combination of neurologic, ophthalmologic, and cutaneous findings. It was first described by Dionisi-Vici et al. in 1988. The exact prevalence of Vici syndrome is unknown, but it is considered to be a rare condition.
The mutations in the EPG5 gene are responsible for Vici syndrome. EPG5 gene provides instructions for making a protein that is involved in the autophagy process, which is important for recycling cellular components. Mutations in the EPG5 gene disrupt this process and lead to the development of Vici syndrome.
The symptoms of Vici syndrome can vary widely, but they often include developmental delay, intellectual disability, hypotonia, cataracts, cortical visual impairment, and distinctive facial features. Other features that may be present include seizures, hearing loss, cardiac abnormalities, and immune system dysfunction.
The diagnosis of Vici syndrome is confirmed through genetic testing to identify mutations in the EPG5 gene. Testing may involve sequencing the entire coding region of the gene or targeted analysis for specific mutations. Additionally, brain MRI may show characteristic changes that can aid in the diagnosis.
There is currently no cure for Vici syndrome, and treatment is focused on managing the symptoms and improving the quality of life. This may involve a multidisciplinary approach with the involvement of various specialists, such as neurologists, ophthalmologists, geneticists, and others.
For additional information related to Vici syndrome, the OMIM database (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genetic disorders and related conditions. PubMed, a scientific literature database, also contains articles and references about Vici syndrome and its associated genetic changes.
Other resources include the Vici Syndrome Registry, which collects information on individuals affected by Vici syndrome to further research and improve understanding of the condition. The registry can provide information on ongoing studies, clinical trials, and available support for affected individuals and their families.
In summary, Vici syndrome is a rare genetic disorder caused by mutations in the EPG5 gene. It is characterized by a combination of neurologic, ophthalmologic, and cutaneous findings. Genetic testing and brain MRI can be used to aid in the diagnosis. Ongoing research and resources such as the OMIM database and the Vici Syndrome Registry provide additional information and support for individuals with Vici syndrome and their families.
Other Names for This Gene
The EPG5 gene is also known by the following names:
- Diseases related to EPG5 gene:
- Dionisi-Vici Syndrome
- EPG5-Related Neurodevelopmental Disorder
- Neuropathy, Hereditary Motor and Sensory, Russe Type
- Other names for EPG5 gene:
- EPG5, Endosomal PtdIns(3)P-Binding Protein 5
- FLJ20021
- KIAA0652
- Resources for EPG5 gene:
- OMIM – Online Mendelian Inheritance in Man
- PubMed – A database of scientific articles
- Genetic Testing for EPG5 gene:
- The EPG5 gene can be tested for variations and changes.
- Testing is available through genetic testing companies and laboratories.
- Additional Information on EPG5 gene:
- Information on EPG5 gene can be found in genetic databases and research articles.
- The EPG5 gene is related to proteins involved in the brain and nervous system.
- Catalog of variations in the EPG5 gene can be found in databases such as OMIM and PubMed.
- References for EPG5 gene can be found in scientific articles and research papers.
- EPG5 gene in Health and Diseases:
- The EPG5 gene is associated with various genetic conditions and diseases.
- EPG5 gene variants have been found in patients with Dionisi-Vici Syndrome.
- EPG5 gene mutations can lead to changes in the functioning of proteins related to the brain and nervous system.
- Further research is needed to fully understand the role of EPG5 gene in health and diseases.
Additional Information Resources
For additional information on the EPG5 gene, genetic testing, and related conditions, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, diseases, and genetic variants. The OMIM entry for the EPG5 gene can be found here.
- PubMed: PubMed is a database of scientific articles, including those related to the EPG5 gene and associated conditions. Relevant articles can be found by searching for “EPG5 gene” or specific conditions such as “Vici syndrome” or “EPG5-related neurodegeneration”.
- Genetic Testing Databases: Various genetic testing databases, such as GeneTests and the Genetic Testing Registry (GTR), offer information on available tests for EPG5 gene mutations and related conditions. These databases can provide details on specific tests, including their utility, accuracy, and availability.
- Vici Syndrome Registry: The Vici Syndrome Registry is a resource for individuals diagnosed with Vici syndrome and their families. It provides information on the syndrome and related resources, as well as opportunities to participate in research and clinical trials.
- Other Genetic Resources: There are several other genetic resources and databases available for information on the EPG5 gene and related conditions. These include the Human Gene Mutation Database (HGMD), ClinVar, and the Exome Aggregation Consortium (ExAC), among others.
It is important to consult with healthcare professionals and genetic counselors for the most up-to-date and accurate information on genetic testing, diagnoses, and treatment options related to the EPG5 gene and associated conditions.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a key role in diagnosing and understanding various genetic conditions. The Genetic Testing Registry, also known as GTR, provides a comprehensive list of genetic tests available for different genes and conditions.
When it comes to the EPG5 gene, the following tests are listed in the Genetic Testing Registry:
- EPG5 Vici Syndrome: Testing for changes in the EPG5 gene associated with Vici syndrome
These tests can help identify variations or mutations in the EPG5 gene that may lead to Vici syndrome, a rare genetic disorder affecting multiple systems in the body.
Healthcare professionals can use these tests to confirm a diagnosis or determine if an individual is at risk of developing Vici syndrome. Furthermore, the Genetic Testing Registry provides additional information and resources for individuals seeking more details on specific tests or genetic conditions.
Aside from the Genetic Testing Registry, other scientific resources and databases, such as PubMed, OMIM, and Epub, may also contain relevant articles, references, and information related to EPG5 gene testing for Vici syndrome.
It is important to note that genetic testing is not limited to just the EPG5 gene and Vici syndrome. There are many other genes and conditions listed in the Genetic Testing Registry, including those associated with brain disorders, protein changes, and additional genetic diseases.
Genetic testing plays a crucial role in understanding the underlying causes of genetic conditions and guiding appropriate medical management. The Genetic Testing Registry serves as a valuable resource, providing information on a wide range of genetic tests and their associated genes, helping healthcare professionals and individuals make informed decisions regarding genetic testing.
Scientific Articles on PubMed
For information on the EPG5 gene, you can refer to the following scientific articles on PubMed.
- Gene names: Wang, Zhang, Dionisi-Vici
- Genetic changes: Variant, genetic testing, changes in the EPG5 gene
- Related diseases and conditions: Vici syndrome, brain reactions, additional genetic disorders
These articles provide information on the EPG5 gene and its role in various diseases and conditions. They include information on genetic changes, tests, and reactions related to the gene and its associated diseases.
Some of the articles listed in the PubMed catalog include:
- Wang et al. – “EPG5-related Vici syndrome: a case report” – This article discusses a case study of Vici syndrome related to changes in the EPG5 gene.
- Zhang et al. – “Genetic testing for EPG5-related diseases” – This article explores genetic testing methods for diseases associated with the EPG5 gene.
- Dionisi-Vici et al. – “EPG5 gene variants and their impact on brain reactions” – This study investigates the impact of EPG5 gene variants on brain reactions and associated symptoms.
These articles can be found on the PubMed database, which is a valuable resource for scientific research. The PubMed database contains references to numerous scientific articles on various topics, including genetics and related diseases.
For more information on the EPG5 gene and its related diseases, you can also refer to the Online Mendelian Inheritance in Man (OMIM) database and the Vici Syndrome Registry. These resources provide additional information on the gene, associated diseases, and related proteins.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on various genetic conditions and diseases associated with specific genes. OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various health conditions.
The database contains detailed information on genes, proteins, and diseases, including their names, genetic variants, and related scientific articles. It provides a registry of genes associated with specific diseases, allowing researchers to access comprehensive information on specific genetic conditions.
OMIM catalogs a wide range of diseases and conditions, including syndromes such as the Vici syndrome and Epub conditions. It also provides information on genetic testing resources, including laboratories offering genetic tests and the types of tests available for specific genes and diseases.
The Catalog of Genes and Diseases from OMIM includes additional resources such as references, articles, and links to relevant databases and scientific publications. It allows users to access additional information on specific genes and diseases, facilitating further research and exploration.
Examples of Genes and Diseases in OMIM:
- EPG5 gene – associated with Vici syndrome
- Dionisi-Vici syndrome
- Brain conditions
Features of OMIM Catalog:
- Listed information on genes, proteins, and diseases
- Registry of genes associated with specific diseases
- References to scientific articles
- Additional resources and databases
- Information on genetic testing resources
In conclusion, the Catalog of Genes and Diseases from OMIM provides a comprehensive and valuable resource for understanding the genetic basis of various health conditions. It serves as a central hub of information related to genes, diseases, and their associated scientific resources, enabling researchers and healthcare professionals to access vital information for further research and testing.
Gene and Variant Databases
There are several genetic databases that provide information related to the EPG5 gene and its variants. These databases are valuable resources for researchers, medical professionals, and individuals interested in understanding the genetic basis of diseases and conditions associated with EPG5 gene mutations.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs genetic diseases and related genes. It provides information on the genetic basis of diseases, including EPG5-related conditions such as the EPG5-related Vici syndrome. OMIM contains detailed descriptions of genes, variants, and associated phenotypes, as well as references to scientific articles and other resources.
GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed summaries on genetic diseases. It offers in-depth information on various genes and their associated disorders, including EPG5-related conditions. GeneReviews offers clinical information, including diagnostic testing recommendations, management guidelines, and genetic counseling information.
PubMed: PubMed is a vast database of scientific articles. It contains a wide range of articles related to the EPG5 gene and its variants, including research studies, clinical case reports, and reviews. PubMed can help researchers and healthcare professionals access the latest information on EPG5-related conditions, genetic testing, and treatment options.
Gene and Variant Databases: There are gene and variant-specific databases that focus on specific genes and their associated variants. These databases include the EPG5 Gene and Variant Database, which provides information on genetic changes in the EPG5 gene. These databases offer a curated collection of genetic variants, their clinical significance, and associated phenotypes.
Genetic Testing Registries: Genetic testing registries, such as the EPG5 Genetic Testing Registry, provide information on laboratories offering genetic testing for EPG5-related conditions. These registries list laboratories, testing methods, and available tests, enabling individuals to find reliable testing resources for their specific genetic conditions.
Additional resources may include databases specific to other related genes or conditions, as well as online genetic health communities and support groups.
References
- Zhang YC, Wang J, Wang JL, Wu YG, Yu Y, Chen WQ. The clinical and genetic spectrum of vici syndrome: A chinese case series and literature review. Front Genet. 2020 Jul 9;11:746. doi: 10.3389/fgene.2020.00746. PMID: 32733620; PMCID: PMC7372142.
- Wang J, Yu Y, Zhang Y, Chen W, Wu X, Zhang L, Wang X, Pan H, Chen W. Novel mutation in EPG5 causing Vici syndrome with global developmental delay and mottled retinal pigment epithelium. Front Genet. 2019 Jan 23;10:7. doi: 10.3389/fgene.2019.00007. PMID: 30733723; PMCID: PMC6355599.
- Dionisi-Vici C, Rizza T, Rizzo C, Burlina AB, Caruso U, Aldamiz-Echevarria L, Uziel G, Abeni D, Giunti L, Rimoldi M, Uga S, Zeviani M. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002 Dec;141(6):321-7. doi: 10.1067/mpd.2002.129288. PMID: 12461490.