Abnormal complex N-glycan level

MedGen UID:: 1688563
•Concept ID:: C5139516
•: Finding

Synonym:	Abnormal concentration of complex N-glycans on glycoproteins

HPO:	HP:0410351

Definition

An abnormal concentration of complex N-glycans on glycoproteins. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal complex N-glycan level

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal metabolism
    - Abnormal glycosylation
      - Abnormal protein glycosylation
        Abnormal protein N-linked glycosylation
        Abnormal complex N-glycan level
        Decreased complex N-glycan level
        Increased complex N-glycan level

Recent clinical studies

Etiology

The Association of the Polymorphisms in the FUT8-Related Locus with the Plasma Glycosylation in Post-Traumatic Stress Disorder.

Tudor L, Nedic Erjavec G, Nikolac Perkovic M, Konjevod M, Uzun S, Kozumplik O, Mimica N, Lauc G, Svob Strac D, Pivac N
Int J Mol Sci 2023 Mar 16;24(6) doi: 10.3390/ijms24065706. PMID: 36982780 Free PMC Article

See all (1)

Diagnosis

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Fan S, Wu H, Wang R, Chen Q, Zhang X
Mol Genet Genomic Med 2024 Apr;12(4):e2422. doi: 10.1002/mgg3.2422. PMID: 38622837 Free PMC Article

Defining the human kidney N-glycome in normal and cancer tissues using MALDI imaging mass spectrometry.

Drake RR, McDowell C, West C, David F, Powers TW, Nowling T, Bruner E, Mehta AS, Angel PM, Marlow LA, Tun HW, Copland JA
J Mass Spectrom 2020 Apr;55(4):e4490. Epub 2020 Jan 21 doi: 10.1002/jms.4490. PMID: 31860772 Free PMC Article

See all (2)

Clinical prediction guides

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Fan S, Wu H, Wang R, Chen Q, Zhang X
Mol Genet Genomic Med 2024 Apr;12(4):e2422. doi: 10.1002/mgg3.2422. PMID: 38622837 Free PMC Article

Complex-Type N-Glycans Are Associated with Cartilage Degeneration within Different Loading Sites of the Tibial Plateau for Knee Osteoarthritis Patients.

Lee YR, Briggs MT, Kuliwaba JS, Jagiello J, Anderson PH, Hoffmann P
J Proteome Res 2023 Aug 4;22(8):2694-2702. Epub 2023 Jul 7 doi: 10.1021/acs.jproteome.3c00251. PMID: 37417588

The Association of the Polymorphisms in the FUT8-Related Locus with the Plasma Glycosylation in Post-Traumatic Stress Disorder.

See all (3)

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Abnormal complex N-glycan level

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Table of contents

Clinical resources

Consumer resources

Reviews

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