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Yang, C. COG5-Congenital Disorder of Glycosylation. Encyclopedia. Available online: https://encyclopedia.pub/entry/5121 (accessed on 16 September 2026).
Yang C. COG5-Congenital Disorder of Glycosylation. Encyclopedia. Available at: https://encyclopedia.pub/entry/5121. Accessed September 16, 2026.
Yang, Catherine. "COG5-Congenital Disorder of Glycosylation" Encyclopedia, https://encyclopedia.pub/entry/5121 (accessed September 16, 2026).
Yang, C. (2020, December 24). COG5-Congenital Disorder of Glycosylation. In Encyclopedia. https://encyclopedia.pub/entry/5121
Yang, Catherine. "COG5-Congenital Disorder of Glycosylation." Encyclopedia. Web. 24 December, 2020.
COG5-Congenital Disorder of Glycosylation
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation

COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.

genetic conditions

References

  1. Fung CW, Matthijs G, Sturiale L, Garozzo D, Wong KY, Wong R, Wong V, Jaeken J.COG5-CDG with a Mild Neurohepatic Presentation. JIMD Rep. 2012;3:67-70. doi:10.1007/8904_2011_61.
  2. Miller VJ, Sharma P, Kudlyk TA, Frost L, Rofe AP, Watson IJ, Duden R, Lowe M, Lupashin VV, Ungar D. Molecular insights into vesicle tethering at the Golgi bythe conserved oligomeric Golgi (COG) complex and the golgin TATA elementmodulatory factor (TMF). J Biol Chem. 2013 Feb 8;288(6):4229-40. doi:10.1074/jbc.M112.426767.
  3. Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S,Baumgartner M, Hennet T. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Hum Mol Genet. 2009 Nov 15;18(22):4350-6. doi:10.1093/hmg/ddp389.
  4. Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. COG5-CDG: expandingthe clinical spectrum. Orphanet J Rare Dis. 2012 Dec 10;7:94. doi:10.1186/1750-1172-7-94. Erratum in: Orphanet J Rare Dis. 2013;8:120.
  5. Smith RD, Lupashin VV. Role of the conserved oligomeric Golgi (COG) complex inprotein glycosylation. Carbohydr Res. 2008 Aug 11;343(12):2024-31. doi:10.1016/j.carres.2008.01.034.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 640
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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