Abstract
OMIM: #242840
Similar content being viewed by others
References
Dionisi Vici C, Sabetta G, Gambarara M et al (1988) Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet 29:1–8
Finocchi A, Angelino G, Cantarutti N et al (2012) Immunodeficiency in VICIS: a heterogeneous phenotype. Am J Med Genet A 158A:434–439
Byrne S, Dionisi-Vici C, Smith L et al (2016a) Vici syndrome: a review. Orphanet J Rare Dis 29(11):21. https://doi.org/10.1186/s13023-016-0399-x
Byrne S, Jansen L, U-King-Im JM et al (2016b) EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 139:765–781
Cullup T, Kho AL, Dionisi-Vici C et al (2013) Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 45:83–87
Halama N, Grauling-Halama SA, Beder A et al (2007) Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain. Int J Oncol 31:205–210
Tian Y, Li Z, Hu W et al (2010) C. elegans screen identifies autophagy genes specific to multicellular organisms. Cell 141:1042–1055
Jiang P, Mizushima N (2014) Autophagy and human diseases. Cell Res 24:69–79
Piano Mortari E, Folgiero V, Marcellini V et al (2017) The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Autophagy 13:1–16
Jungbluth H, Gautel M (2014) Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci 6:339. https://doi.org/10.3389/fnagi.2014.00339
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Nature Switzerland AG
About this entry
Cite this entry
Martinelli, D., Carsetti, R., Dionisi-Vici, C. (2022). Vici Syndrome (VICIS). In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_105-1
Download citation
DOI: https://doi.org/10.1007/978-3-319-66816-1_105-1
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-66816-1
Online ISBN: 978-3-319-66816-1
eBook Packages: Springer Reference MedicineReference Module Medicine