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GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation

Congenital disorder of glycosylation

Synonyms
Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)

Summary

A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. [from ORDO]

Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (42 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1S, CXorf45, DEE36, EIEE36, GLT28D1, MDS031, TDRD13, YGL047W, ALG13
    Summary: ALG13 UDP-N-acetylglucosaminyltransferase subunit

  • Also known as: AGER1, CDG1R, GATD6, OKSWcl45, OST, OST48, WBP1, DDOST
    Summary: dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

  • Also known as: CDG1U, DPM2
    Summary: dolichyl-phosphate mannosyltransferase subunit 2, regulatory

  • Also known as: CDG1CC, IAP, MRX95, OST3B, PRO0756, SLC58A1, XMEN, bA217H1.1, MAGT1
    Summary: magnesium transporter 1

  • Also known as: CDG1T, GSD14, PGM1
    Summary: phosphoglucomutase 1

  • Also known as: CDG1Y, TRAPD, SSR4
    Summary: signal sequence receptor subunit 4

  • Also known as: CDG2K, FT27, GDT1, SLC64A1, TMPT27, TPARL, TMEM165
    Summary: transmembrane protein 165

  • Also known as: D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2, TUSC3
    Summary: tumor suppressor candidate 3

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