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XYLT1-congenital disorder of glycosylation

MedGen UID:
1659170
•Concept ID:
C4750849
•
Disease or Syndrome
Synonym: XYLT1-CDG
SNOMED CT: Xylosyltransferase 1 congenital disorder of glycosylation (773418007); XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation (773418007); XYLT1-CDG (773418007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018273
Orphanet: ORPHA370930

Definition

A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVXYLT1-congenital disorder of glycosylation

Professional guidelines

PubMed

Recent Advances in Understanding the Pathogenesis of Rheumatoid Arthritis: New Treatment Strategies.
Mueller AL, Payandeh Z, Mohammadkhani N, Mubarak SMH, Zakeri A, Alagheband Bahrami A, Brockmueller A, Shakibaei M
Cells 2021 Nov 4;10(11) doi: 10.3390/cells10113017. PMID: 34831240Free PMC Article
Efficacy of Low-Carbohydrate Ketogenic Diet in the Treatment of Type 2 Diabetes.
Dashti HM, Mathew TC, Al-Zaid NS
Med Princ Pract 2021;30(3):223-235. Epub 2020 Oct 9 doi: 10.1159/000512142. PMID: 33040057Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Etiology

Glycosylation: mechanisms, biological functions and clinical implications.
He M, Zhou X, Wang X
Signal Transduct Target Ther 2024 Aug 5;9(1):194. doi: 10.1038/s41392-024-01886-1. PMID: 39098853Free PMC Article
Roles of CA19-9 in pancreatic cancer: Biomarker, predictor and promoter.
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580
Platelets and Defective N-Glycosylation.
Mammadova-Bach E, Jaeken J, Gudermann T, Braun A
Int J Mol Sci 2020 Aug 6;21(16) doi: 10.3390/ijms21165630. PMID: 32781578Free PMC Article
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
What is new in CDG?
Jaeken J, Péanne R
J Inherit Metab Dis 2017 Jul;40(4):569-586. Epub 2017 May 8 doi: 10.1007/s10545-017-0050-6. PMID: 28484880

Diagnosis

Glycosylation: mechanisms, biological functions and clinical implications.
He M, Zhou X, Wang X
Signal Transduct Target Ther 2024 Aug 5;9(1):194. doi: 10.1038/s41392-024-01886-1. PMID: 39098853Free PMC Article
MUC1: An emerging target in cancer treatment and diagnosis.
Qing L, Li Q, Dong Z
Bull Cancer 2022 Nov;109(11):1202-1216. Epub 2022 Sep 30 doi: 10.1016/j.bulcan.2022.08.001. PMID: 36184332
Roles of CA19-9 in pancreatic cancer: Biomarker, predictor and promoter.
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Protein glycosylation in cancer.
Stowell SR, Ju T, Cummings RD
Annu Rev Pathol 2015;10:473-510. doi: 10.1146/annurev-pathol-012414-040438. PMID: 25621663Free PMC Article

Therapy

Research Advances on the Damage Mechanism of Skin Glycation and Related Inhibitors.
Zheng W, Li H, Go Y, Chan XHF, Huang Q, Wu J
Nutrients 2022 Nov 1;14(21) doi: 10.3390/nu14214588. PMID: 36364850Free PMC Article
The Effect of Berberine on Metabolic Profiles in Type 2 Diabetic Patients: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Guo J, Chen H, Zhang X, Lou W, Zhang P, Qiu Y, Zhang C, Wang Y, Liu WJ
Oxid Med Cell Longev 2021;2021:2074610. Epub 2021 Dec 15 doi: 10.1155/2021/2074610. PMID: 34956436Free PMC Article
Glycosylation in the Era of Cancer-Targeted Therapy: Where Are We Heading?
Mereiter S, Balmaña M, Campos D, Gomes J, Reis CA
Cancer Cell 2019 Jul 8;36(1):6-16. doi: 10.1016/j.ccell.2019.06.006. PMID: 31287993
The "less-is-more" in therapeutic antibodies: Afucosylated anti-cancer antibodies with enhanced antibody-dependent cellular cytotoxicity.
Pereira NA, Chan KF, Lin PC, Song Z
MAbs 2018 Jul;10(5):693-711. doi: 10.1080/19420862.2018.1466767. PMID: 29733746Free PMC Article
Intravenous immunoglobulin in neurology--mode of action and clinical efficacy.
Lünemann JD, Nimmerjahn F, Dalakas MC
Nat Rev Neurol 2015 Feb;11(2):80-9. Epub 2015 Jan 6 doi: 10.1038/nrneurol.2014.253. PMID: 25561275

Prognosis

Targeting cancer glycosylation repolarizes tumor-associated macrophages allowing effective immune checkpoint blockade.
Stanczak MA, Rodrigues Mantuano N, Kirchhammer N, Sanin DE, Jacob F, Coelho R, Everest-Dass AV, Wang J, Trefny MP, Monaco G, Bärenwaldt A, Gray MA, Petrone A, Kashyap AS, Glatz K, Kasenda B, Normington K, Broderick J, Peng L, Pearce OMT, Pearce EL, Bertozzi CR, Zippelius A, Läubli H
Sci Transl Med 2022 Nov 2;14(669):eabj1270. doi: 10.1126/scitranslmed.abj1270. PMID: 36322632Free PMC Article
MUC1: An emerging target in cancer treatment and diagnosis.
Qing L, Li Q, Dong Z
Bull Cancer 2022 Nov;109(11):1202-1216. Epub 2022 Sep 30 doi: 10.1016/j.bulcan.2022.08.001. PMID: 36184332
Recent Advances in Understanding the Pathogenesis of Rheumatoid Arthritis: New Treatment Strategies.
Mueller AL, Payandeh Z, Mohammadkhani N, Mubarak SMH, Zakeri A, Alagheband Bahrami A, Brockmueller A, Shakibaei M
Cells 2021 Nov 4;10(11) doi: 10.3390/cells10113017. PMID: 34831240Free PMC Article
Roles of CA19-9 in pancreatic cancer: Biomarker, predictor and promoter.
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725

Clinical prediction guides

Congenital disorders of glycosylation and infantile epilepsy.
Lee HF, Chi CS
Epilepsy Behav 2023 May;142:109214. Epub 2023 Apr 21 doi: 10.1016/j.yebeh.2023.109214. PMID: 37086590
N-Glycosylation and Inflammation; the Not-So-Sweet Relation.
Radovani B, Gudelj I
Front Immunol 2022;13:893365. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.893365. PMID: 35833138Free PMC Article
Glycosylation and Cardiovascular Diseases.
Dashti H, Pabon Porras MA, Mora S
Adv Exp Med Biol 2021;1325:307-319. doi: 10.1007/978-3-030-70115-4_15. PMID: 34495542
Roles of CA19-9 in pancreatic cancer: Biomarker, predictor and promoter.
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580
Glycosylation changes in inflammatory diseases.
Groux-Degroote S, Cavdarli S, Uchimura K, Allain F, Delannoy P
Adv Protein Chem Struct Biol 2020;119:111-156. Epub 2019 Nov 26 doi: 10.1016/bs.apcsb.2019.08.008. PMID: 31997767

Recent systematic reviews

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Treatment of periodontitis for glycaemic control in people with diabetes mellitus.
Simpson TC, Clarkson JE, Worthington HV, MacDonald L, Weldon JC, Needleman I, Iheozor-Ejiofor Z, Wild SH, Qureshi A, Walker A, Patel VA, Boyers D, Twigg J
Cochrane Database Syst Rev 2022 Apr 14;4(4):CD004714. doi: 10.1002/14651858.CD004714.pub4. PMID: 35420698Free PMC Article
The Effect of Berberine on Metabolic Profiles in Type 2 Diabetic Patients: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Guo J, Chen H, Zhang X, Lou W, Zhang P, Qiu Y, Zhang C, Wang Y, Liu WJ
Oxid Med Cell Longev 2021;2021:2074610. Epub 2021 Dec 15 doi: 10.1155/2021/2074610. PMID: 34956436Free PMC Article
Screening for type 2 diabetes mellitus.
Peer N, Balakrishna Y, Durao S
Cochrane Database Syst Rev 2020 May 29;5(5):CD005266. doi: 10.1002/14651858.CD005266.pub2. PMID: 32470201Free PMC Article
Resistance exercise versus aerobic exercise for type 2 diabetes: a systematic review and meta-analysis.
Yang Z, Scott CA, Mao C, Tang J, Farmer AJ
Sports Med 2014 Apr;44(4):487-99. doi: 10.1007/s40279-013-0128-8. PMID: 24297743

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