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Abnormal protein O-linked glycosylation

MedGen UID:
868534
Concept ID:
C4022933
Anatomical Abnormality
HPO: HP:0012358

Definition

An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. [from HPO]

Conditions with this feature

TMEM199-CDG
MedGen UID:
895025
Concept ID:
C4225190
Disease or Syndrome
Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).
Immunodeficiency 47
MedGen UID:
934786
Concept ID:
C4310819
Disease or Syndrome
Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by Jansen et al., 2016).
Congenital disorder of glycosylation, type iit
MedGen UID:
1709627
Concept ID:
C5394387
Disease or Syndrome
Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).
Congenital disorder of glycosylation, type IIw
MedGen UID:
1794196
Concept ID:
C5561986
Disease or Syndrome
Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).

Professional guidelines

PubMed

Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H
Prague Med Rep 2015;116(2):73-86. doi: 10.14712/23362936.2015.48. PMID: 26093664
Karamessinis PM, Malamitsi-Puchner A, Boutsikou T, Makridakis M, Vougas K, Fountoulakis M, Vlahou A, Chrousos G
Mol Cell Proteomics 2008 Mar;7(3):591-9. Epub 2007 Dec 7 doi: 10.1074/mcp.M700422-MCP200. PMID: 18065755

Recent clinical studies

Etiology

Antonucci A, Marucci A, Trischitta V, Di Paola R
Int J Mol Sci 2022 Jan 15;23(2) doi: 10.3390/ijms23020929. PMID: 35055114Free PMC Article
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS
Brain 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. PMID: 32293671Free PMC Article
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E
Genet Med 2017 Nov;19(11):1226-1235. Epub 2017 Jun 15 doi: 10.1038/gim.2017.41. PMID: 28617415Free PMC Article
Butkinaree C, Park K, Hart GW
Biochim Biophys Acta 2010 Feb;1800(2):96-106. Epub 2009 Aug 6 doi: 10.1016/j.bbagen.2009.07.018. PMID: 19647786Free PMC Article
van Reeuwijk J, Brunner HG, van Bokhoven H
Clin Genet 2005 Apr;67(4):281-9. doi: 10.1111/j.1399-0004.2004.00368.x. PMID: 15733261

Diagnosis

Ng BG, Freeze HH, Himmelreich N, Blau N, Ferreira CR
Mol Genet Metab 2024 May;142(1):108476. Epub 2024 Apr 10 doi: 10.1016/j.ymgme.2024.108476. PMID: 38653092
Huynh DT, Tsolova KN, Watson AJ, Khal SK, Green JR, Li D, Hu J, Soderblom EJ, Chi JT, Evans CS, Boyce M
Nat Commun 2023 Oct 17;14(1):6558. doi: 10.1038/s41467-023-42227-0. PMID: 37848414Free PMC Article
Antonucci A, Marucci A, Trischitta V, Di Paola R
Int J Mol Sci 2022 Jan 15;23(2) doi: 10.3390/ijms23020929. PMID: 35055114Free PMC Article
Morava E, Guillard M, Lefeber DJ, Wevers RA
Eur J Hum Genet 2009 Sep;17(9):1099-110. Epub 2009 Apr 29 doi: 10.1038/ejhg.2009.22. PMID: 19401719Free PMC Article
Muntoni F, Brockington M, Torelli S, Brown SC
Curr Opin Neurol 2004 Apr;17(2):205-9. doi: 10.1097/00019052-200404000-00020. PMID: 15021250

Therapy

Nygaard MB, Herlihy AS, Jeanneau C, Nielsen JE, Bennett EP, Jørgensen N, Clausen H, Mandel U, Rajpert-De Meyts E, Almstrup K
Int J Mol Sci 2018 Sep 27;19(10) doi: 10.3390/ijms19102949. PMID: 30262754Free PMC Article
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E
Genet Med 2017 Nov;19(11):1226-1235. Epub 2017 Jun 15 doi: 10.1038/gim.2017.41. PMID: 28617415Free PMC Article
Kippe JM, Mueller TM, Haroutunian V, Meador-Woodruff JH
Schizophr Res 2015 Aug;166(1-3):219-24. Epub 2015 Jun 20 doi: 10.1016/j.schres.2015.06.002. PMID: 26104473Free PMC Article

Prognosis

Zhang N, Liu S, Xu J, Ning T, Xie S, Min L, Zhu S, Zhang S, Zhu S
Exp Biol Med (Maywood) 2022 Sep;247(17):1518-1528. Epub 2022 Jun 20 doi: 10.1177/15353702221101810. PMID: 35723049Free PMC Article
Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA
Orphanet J Rare Dis 2018 Jan 10;13(1):4. doi: 10.1186/s13023-017-0757-3. PMID: 29321044Free PMC Article
Vitiazeva V, Kattla JJ, Flowers SA, Lindén SK, Premaratne P, Weijdegård B, Sundfeldt K, Karlsson NG
PLoS One 2015;10(6):e0130197. Epub 2015 Jun 15 doi: 10.1371/journal.pone.0130197. PMID: 26075384Free PMC Article
Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry GT, Fridovich-Keil JL
Mol Genet Metab 2012 Aug;106(4):442-54. Epub 2012 Jun 12 doi: 10.1016/j.ymgme.2012.05.025. PMID: 22743281Free PMC Article
Morava E, Guillard M, Lefeber DJ, Wevers RA
Eur J Hum Genet 2009 Sep;17(9):1099-110. Epub 2009 Apr 29 doi: 10.1038/ejhg.2009.22. PMID: 19401719Free PMC Article

Clinical prediction guides

Zhang A, Venkat A, Taujale R, Mull JL, Ito A, Kannan N, Haltiwanger RS
J Biol Chem 2021 Jul;297(1):100843. Epub 2021 May 28 doi: 10.1016/j.jbc.2021.100843. PMID: 34058199Free PMC Article
Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry GT, Fridovich-Keil JL
Mol Genet Metab 2012 Aug;106(4):442-54. Epub 2012 Jun 12 doi: 10.1016/j.ymgme.2012.05.025. PMID: 22743281Free PMC Article
Karamessinis PM, Malamitsi-Puchner A, Boutsikou T, Makridakis M, Vougas K, Fountoulakis M, Vlahou A, Chrousos G
Mol Cell Proteomics 2008 Mar;7(3):591-9. Epub 2007 Dec 7 doi: 10.1074/mcp.M700422-MCP200. PMID: 18065755
Liu F, Iqbal K, Grundke-Iqbal I, Hart GW, Gong CX
Proc Natl Acad Sci U S A 2004 Jul 20;101(29):10804-9. Epub 2004 Jul 12 doi: 10.1073/pnas.0400348101. PMID: 15249677Free PMC Article
Yao PJ, Coleman PD
J Neurosci 1998 Apr 1;18(7):2399-411. doi: 10.1523/JNEUROSCI.18-07-02399.1998. PMID: 9502801Free PMC Article

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