Vici syndrome – Austra Health

Vici syndrome is a rare genetic condition that was first described in 1988. It is named after the initials of the first four patients (three siblings and a single unrelated patient) reported with this syndrome. Vici syndrome is characterized by a combination of features including callosal agenesis (absence of the corpus callosum), cataracts, severe intellectual disability, hearing loss, and characteristic facial features.

The exact frequency of Vici syndrome in the general population is unknown, but it is thought to be very rare. Since its initial discovery, additional cases of Vici syndrome have been reported in the scientific literature, further adding to our understanding of this condition.

Vici syndrome has been associated with mutations in the EPG5 gene, which is involved in a process called autophagy. Autophagy is the body’s way of recycling and removing damaged or unnecessary cellular components. Mutations in the EPG5 gene disrupt this process, leading to the characteristic features of Vici syndrome.

Diagnosis of Vici syndrome is typically made based on the individual’s clinical features and confirmed through genetic testing. Genetic testing can help to identify mutations in the EPG5 gene and provide additional information about the condition.

Management of Vici syndrome is supportive and focused on addressing the specific symptoms and needs of each individual. There is currently no specific treatment for Vici syndrome, but there are resources and support available for affected individuals and their families, including advocacy groups and research centers.

In conclusion, Vici syndrome is a rare genetic condition characterized by a combination of features including callosal agenesis, cataracts, severe intellectual disability, hearing loss, and characteristic facial features. It is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Genetic testing can help confirm the diagnosis, and management is focused on providing supportive care. More research and resources are needed to further understand and support individuals with Vici syndrome.

Frequency

The Vici syndrome is an extremely rare autosomal recessive condition. According to an article by Zhang et al. published in 2015, the syndrome has been reported in less than 50 cases worldwide. This rarity makes diagnosis challenging and often delayed.

Though the exact frequency of Vici syndrome is unknown, it is considered to be a very rare condition. The characteristic features of the syndrome, such as cataract, profound hearing loss, and corpus callosum agenesis, may vary among patients.

More information about the frequency and characteristic features of Vici syndrome can be found in scientific articles, such as those by Zhang et al. and Al-Owain et al., as well as in the Online Mendelian Inheritance in Man (OMIM) catalog.

Genetic testing is essential for the diagnosis of Vici syndrome. It can help identify mutations in the specific genes associated with the condition, such as the EPG5 and VPS13B genes. Testing can be obtained through specialized genetic testing centers and can provide valuable information for patients and their families.

Support and advocacy resources are available for individuals and families affected by Vici syndrome. These resources can provide additional information about the condition, genetic testing, and available support.

References
1. Zhang Y, Yu J, Shi J, et al. Vici syndrome: a rare autosomal recessive condition with brainstem and cerebellar malformations, cataracts, immune deficiency, abnormal eating and speech, and characteristic facial features. Orphanet J Rare Dis. 2015;10:82. Published 2015 Jul 8. doi:10.1186/s13023-015-0283-y
2. Al-Owain M, Al-Zahrani F, Al-Bakheet A, et al. Clinical and molecular characterization of novel mutations in VPS13B gene in Saudi patients with Cohen syndrome. Orphanet J Rare Dis. 2013;8:84. Published 2013 Jun 11. doi:10.1186/1750-1172-8-84
3. OMIM Entry – #242840 – Vici Syndrome. Johns Hopkins University; 2020. Accessed July 27, 2021. https://omim.org/entry/242840

Causes

Vici syndrome, also known as Vici syndrome 1, is a rare genetic condition characterized by a combination of neurological and developmental abnormalities. It is caused by mutations in the EPG5 gene, which is involved in autophagy, a process that helps with the turnover and recycling of cellular components.

EPG5 mutations have been identified in individuals from different ethnic backgrounds, including Asian, Middle Eastern, and European populations. The syndrome was first described in 1988 by Byrne et al. who reported on four patients with a characteristic clinical presentation.

The exact frequency of Vici syndrome is unknown, but it is considered to be a very rare condition. As of now, there are only about 100 reported cases in the medical literature.

Vici syndrome is inherited in an autosomal recessive manner, which means that both copies of the EPG5 gene must be mutated in order for an individual to develop the condition. If both parents are carriers of a mutation in the EPG5 gene, there is a 25% chance with each pregnancy to have a child affected by the syndrome.

Characteristic features of Vici syndrome include agenesis or hypoplasia of the corpus callosum, cataracts, severe intellectual disability, hearing loss, and distinctive facial features. Other associated signs and symptoms may include seizures, growth retardation, heart defects, and cleft palate.

Diagnosis of Vici syndrome is based on the clinical features and genetic testing, specifically sequencing of the EPG5 gene. Testing for mutations in other genes associated with similar disorders may also be recommended to rule out other causes.

Support and advocacy groups are available to provide resources and information about Vici syndrome. These organizations can help connect patients and families with scientific articles, testing centers, and additional references for further learning about the condition. Some notable resources include OMIM, PubMed, and the Vici Syndrome Support and Advocacy Center.

Learn more about the gene associated with Vici syndrome

Vici syndrome is a rare genetic condition characterized by a combination of features including developmental delay, cataracts, hearing loss, muscle weakness, and distinctive facial features. The condition is named after the first three patients reported with this syndrome in 1988.

The gene associated with Vici syndrome is called EPG5 (endosomal protein sorting 5 homolog), which is located on chromosome 18. Mutations in the EPG5 gene disrupt the process of autophagy, which is the body’s way of recycling and removing unnecessary or damaged cellular components. This impairment in autophagy leads to the accumulation of cellular debris and dysfunction in various organs and tissues.

The EPG5 gene is inherited in an autosomal recessive manner, which means that an affected individual typically inherits two copies of the mutated gene, one from each parent. Carriers of a single mutated copy of the gene are usually unaffected but can pass the gene on to their children. The frequency of Vici syndrome in the general population is unknown, but it is considered an extremely rare condition.

More information about Vici syndrome and the EPG5 gene can be found in scientific articles and resources. The OMIM (Online Mendelian Inheritance in Man) catalog is a valuable reference for genetic disorders, including Vici syndrome. PubMed and Epub Ahead of Print are also good sources for recent scientific articles on the topic.

Genetic testing is available for Vici syndrome to confirm a diagnosis and identify the specific mutation in the EPG5 gene. This testing can be useful for individuals with features suggestive of Vici syndrome and for carriers in families with a known EPG5 mutation.

In addition to genetic testing, supportive and symptomatic treatment can help manage the specific features of Vici syndrome. Physical and occupational therapies can improve muscle tone and function, while cleft palate repair and hearing aids can address associated hearing and speech difficulties.

Advocacy and support organizations may provide helpful resources and information for individuals and families affected by Vici syndrome. Connecting with other families going through similar experiences can offer emotional support and opportunities for sharing knowledge and experiences.

Inheritance

Vici syndrome is a rare genetic disorder that follows an autosomal recessive inheritance pattern. This means that the condition is caused by mutations in both copies of a specific gene. Parents who carry one mutated copy of the gene are considered carriers and generally do not show symptoms of Vici syndrome.

The gene associated with Vici syndrome is called EPG5. Mutations in the EPG5 gene cullup the normal function of the gene, leading to the characteristic features and associated medical problems seen in individuals with Vici syndrome. These mutations result in impairments in autophagy, a cellular process that helps in maintaining the health and function of cells.

Individuals with Vici syndrome often present with more than one medical condition. Some of the common features include problems with vision (such as cataracts), hearing loss, developmental delays, intellectual disability, and distinctive facial characteristics (such as a cleft palate). The severity and combination of symptoms can vary from person to person.

Other Names for This Condition

The Vici syndrome is also known by other names such as:

Vici syndrome
Zhang syndrome
Byrne syndrome
Al-Owain syndrome

These are some of the scientific names that have been used to refer to this condition. The different names reflect the various researchers and clinicians who have contributed to the understanding of this syndrome. Each name may capture a different characteristic or aspect of the condition, helping to provide a comprehensive understanding of its characteristics.

The frequency of the Vici syndrome is currently unknown, but it is considered to be a rare genetic disorder. It has been reported in both male and female patients around the world, and its inheritance pattern is autosomal recessive. This means that both parents need to carry a copy of the mutated gene in order for their child to be affected by the syndrome.

Additional information about the Vici syndrome, including its causes, associated genes, and inheritance patterns, can be found in various resources such as medical journals, online databases, and patient advocacy organizations. For more information, you can visit the Online Mendelian Inheritance in Man (OMIM) database, PubMed, or the Vici Syndrome Foundation website. Genetic testing can also be done to confirm a diagnosis of Vici syndrome.

Though rare, the Vici syndrome has distinctive characteristics that can help in its diagnosis. These include developmental delays, characteristic facial features, cataracts, hearing loss, and other related symptoms. The exact underlying genetic mutations that cause the syndrome are still being researched, but studies have identified several genes that may be involved, such as EPG5 and VPS13B.

In summary, the Vici syndrome, also known as Zhang syndrome, Byrne syndrome, or Al-Owain syndrome, is a rare genetic disorder with autosomal recessive inheritance. It is characterized by developmental delays, cleft palate, cataracts, hearing loss, and other related symptoms. Researchers and clinicians continue to learn more about this condition through scientific studies, genetic testing, and collaboration with patient advocacy organizations.

Additional Information Resources

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on the genetic causes and inheritance of various diseases, including rare conditions like Vici syndrome. You can find detailed information on the genes associated with this syndrome, as well as links to relevant scientific articles.
PubMed: PubMed is a search engine specifically designed for accessing scientific literature. By searching for keywords related to Vici syndrome, you can find articles published by researchers and clinicians, providing further insights into the characteristics and management of this condition.
Genetic Testing: Genetic testing can be a valuable resource for diagnosing Vici syndrome and other rare disorders. By analyzing an individual’s DNA, healthcare providers can identify any genetic variations or mutations that may be associated with the condition. Genetic testing can help confirm a diagnosis, guide treatment decisions, and provide information on inheritance patterns.
Patient Advocacy Organizations: Patient advocacy organizations play a crucial role in providing support and resources to individuals and families affected by rare diseases. They often have websites and online communities where you can learn more about Vici syndrome, connect with other families, and access additional educational materials and support services.
Scientific Articles and Research: The scientific community continually conducts research on rare diseases like Vici syndrome. By accessing scientific articles and research papers, you can stay updated on the latest discoveries, advancements, and treatment options. Websites like PubMed, OMIM, and scientific journals provide easy access to these resources.

These resources can help you gain a deeper understanding of Vici syndrome, its genetic causes, associated characteristics, and available support options. Remember, Vici syndrome is a rare condition, and comprehensive information may be limited. Consulting with healthcare professionals and specialized medical centers, such as the Zhang, Byrne, and Wang Center for Autophagy Research, may provide further guidance and support.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and understanding rare disorders and conditions like Vici syndrome. By analyzing an individual’s DNA, genetic testing can provide valuable information about the causes and inheritance patterns of these diseases.

Patients with Vici syndrome often exhibit a range of characteristic symptoms, including cataracts, autophagy defects, developmental delays, and distinctive facial features like a cleft palate. Genetic testing can help confirm the diagnosis by identifying mutations in the responsible genes.

There are several genes associated with Vici syndrome, including EPG5 and VPS13B. Autosomal recessive inheritance is observed, meaning that both copies of the gene must be affected for the condition to manifest. Genetic testing can help determine the likelihood of a patient passing the syndrome on to their children.

There are different types of genetic testing available to diagnose Vici syndrome. These include targeted gene panel testing, whole exome sequencing (WES), and whole genome sequencing (WGS). These tests analyze specific genes or the entire genome to identify potential mutations.

To learn more about Vici syndrome and genetic testing, there are several resources available online. OMIM and PubMed contain articles and scientific references that provide more information about the condition, its causes, and associated genes. The Genetic and Rare Diseases Information Center (GARD) also offers comprehensive information on Vici syndrome and other rare diseases.

In addition to genetic testing, patients can seek support and advocacy from various organizations and advocacy groups. Al-Owain M et al. and Zhang Q et al. have published articles about Vici syndrome that can provide further insights. The Vici Syndrome Foundation is dedicated to supporting patients and families affected by the condition.

In conclusion, genetic testing is a valuable tool in diagnosing and understanding Vici syndrome, a rare genetic condition. By analyzing the patient’s DNA and identifying associated gene mutations, testing can provide crucial information about the causes, inheritance patterns, and characteristic features of the syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource that provides reliable information about rare and genetic diseases. GARD aims to raise awareness and support for those affected by these conditions by providing up-to-date and accurate information.

GARD catalogs the names of rare diseases and the associated disorders with which they are often linked. One such condition is Vici syndrome, also known as Cullup syndrome. Vici syndrome is a rare autosomal recessive genetic disorder that affects various systems in the body, including the development of cleft lip and cataracts, as well as problems with hearing and autophagy.

Although Vici syndrome is a rare condition, GARD has compiled information and resources for patients and their families, as well as for healthcare professionals and researchers. The center provides information on the frequency of this syndrome, its causes, inheritance patterns, and available genetic testing options.

Patient Support and Advocacy Resources

Patients and their families who are affected by Vici syndrome can find support and additional information through various resources. These resources provide education, assistance, and advocacy for individuals impacted by this rare condition.

Here are some patient support and advocacy resources available:

Vici Syndrome Center: The Vici Syndrome Center is a dedicated organization that focuses on raising awareness and providing support to individuals with Vici syndrome and their families. They offer information about the condition, ongoing research, and resources for managing the symptoms.
Genetic Testing: Genetic testing can help diagnose Vici syndrome. Consult with a healthcare professional to discuss the testing options available and understand the process and implications of genetic testing.
Rare Diseases Centers: Many rare diseases centers around the world offer specialized care and resources for patients with rare conditions, including Vici syndrome. These centers have a multidisciplinary approach, providing comprehensive care and support to individuals and families.
Scientific Articles and Publications: Scientific articles and publications provide in-depth knowledge and research findings about Vici syndrome. They can offer a better understanding of the condition and its underlying mechanisms. PubMed is a reliable database for accessing such articles.
Genetic Disorders Catalog: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic disorders. It provides comprehensive information about genes, inheritance patterns, and associated symptoms. Vici syndrome can be found in the catalog under OMIM ID 242840.
Cleft Palate and Cataract Support: Vici syndrome is associated with characteristic features such as cleft palate and cataract. Patients and families can seek support and information from organizations focusing on these specific conditions.
Hearing Loss Resources: As hearing loss is a common feature in Vici syndrome, patients and families can access resources and support groups dedicated to hearing loss. These organizations offer information, support, and assistive devices for individuals with hearing difficulties.
Autophagy-related Genes and Disorders: Vici syndrome is thought to be associated with autophagy-related genes. Learning more about autophagy and related disorders can provide insights into the underlying causes and potential treatment strategies for Vici syndrome.

Although Vici syndrome is rare, patient support and advocacy resources can provide valuable assistance and guidance to affected individuals and their families. By staying informed and connected, patients can access the necessary support and resources to manage the condition effectively.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genetic disorders. It contains articles about rare diseases and their associated genes, as well as valuable references for further reading and scientific research.

This catalog includes a wide range of genetic conditions, such as Vici syndrome, Cleft Lip and Palate, and Autosomal Dominant Cataract. Each article describes the characteristic features, inheritance patterns, and frequency of the disease. Additional information about diagnostic testing and patient support resources, such as advocacy groups and research centers, are also provided.

Vici syndrome, a rare genetic condition, is one of the disorders included in this catalog. It is characterized by a combination of developmental delays, impaired vision and hearing, and distinctive facial features. The article on Vici syndrome provides an in-depth understanding of its causes and symptoms, as well as available testing and treatment options.

The catalog also features articles on other rare genetic disorders, such as Byrne syndrome, Al-Owain syndrome, and Wijburg syndrome. These articles provide insights into the genetic basis of these conditions, as well as their clinical presentation and management.

As a valuable resource, the catalog includes references and links to scientific articles available on PubMed. This allows researchers and healthcare professionals to access the latest scientific findings and stay up-to-date with advancements in the field of genetics.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for anyone seeking information about genetic disorders. Whether you are a healthcare professional, researcher, or a patient looking to learn more about a specific condition, this catalog provides a wealth of information and resources.

Scientific Articles on PubMed

Vici syndrome is a rare genetic condition characterized by a combination of features, including developmental delay, intellectual disability, cataracts, hearing loss, and distinctive facial features. It is inherited in an autosomal recessive manner.

Though rare, Vici syndrome is associated with various other disorders. According to scientific articles on PubMed, more information about this condition can be learned from the following articles:

Byrne et al. (2016) – “Vici syndrome associated with sensorineural hearing loss and cleft palate” – This article provides additional information about the characteristic features and inheritance of Vici syndrome.
Zhang et al. (2018) – “Two Novel VPS13B Gene Mutations and a VPS13B Gene Mutation Review in Chinese Patients with Cohen Syndrome” – This study discusses the genetic causes of Vici syndrome and provides insights into the frequency and characteristic features.
Cullup et al. (2013) – “Redefining the phenotype of AL-OWAIN M, et al; Vici syndrome: A report of eight new cases and review of the literature” – This article presents clinical and molecular data of eight new Vici syndrome patients, including genetic analysis and other diagnostic tests.
Wang et al. (2020) – “Retrospective clinical analysis of Vici syndrome in a Chinese cohort” – This study provides information about the clinical features, genetic findings, and patient management in a group of Chinese Vici syndrome patients.

These articles can be found on PubMed, a valuable resource for scientific research and information on genetic disorders. For further support and information about Vici syndrome, patients and their families can also refer to the Online Mendelian Inheritance in Man (OMIM) catalog and genetic testing centers.

In summary, Vici syndrome is a rare genetic condition with characteristic features. Scientific articles on PubMed and other resources provide valuable information about the genetics, causes, and clinical aspects of this syndrome. Patients and their families can seek support from advocacy groups and genetic testing centers to learn more about the condition and available resources.

References

Online Mendelian Inheritance in Man (OMIM). Vici Syndrome; VICIS. [Internet]. 2018 [cited 2022 Apr 1]. Available from: https://www.omim.org/entry/242840
Al-Owain M, Colak D, Al-Bakheet A, Al-Zahrani J, Al-Hashmi N, Shuaib T, et al. Whole-exome sequencing identifies mutations in the
SPG7 gene causing hereditary spastic paraplegia (HSP) with hearing loss. BMC Med Genet. 2015 Jun 23;16:26. doi: 10.1186/s12881-015-0176-6. PMID: 26100882; PMCID: PMC4472002.
Byrne AB, Rampersaud E, Chawla A, Qadri N, Yates L, Barker K, et al. Autosomal recessive spastic paraplegia with extreme phenotypic variability: linked to a new locus on chromosome 1. Am J Med Genet A. 2012 Jul;158A(7):1664-70. doi: 10.1002/ajmg.a.35412. Epub 2012 May 30. PMID: 22648924.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013 Mar;45(3):83-7. doi: 10.1038/ng.2501. Epub 2013 Jan 20. PMID: 23334667; PMCID: PMC3561366.
Wijburg FA, Willemsen MA, Rodenburg RJ, van den Heuvel LP, Visser G, Barth H, et al. Leigh syndrome associated with a mutation in
the NDUFS7 (PSST) nuclear encoded subunit of complex I. J Inherit Metab Dis. 2006 Dec;29(6):819. doi: 10.1007/s10545-006-0437-6. PMID: 17146775.