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Standards Ontologies Notations
congenital disorder of glycosylation

Summary
Synonym
  • carbohydrate-deficient glycoprotein syndrome
Definition
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
Super Class
carbohydrate metabolic disorder physical disorder
External Links
Disease Ontology
DOID:5212
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 59 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
248 ALPI alkaline phosphatase, intestinal
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
537 ATP6AP1 ATPase H+ transporting accessory protein 1
1605 DAG1 dystroglycan 1
1634 DCN decorin
1650 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
1738 DLD dihydrolipoamide dehydrogenase
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
14595 B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
54128 Pmm2 phosphomannomutase 2
208211 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
208624 Alg3 ALG3 alpha-1,3- mannosyltransferase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24390 B4galt1 beta-1,4-galactosyltransferase 1
287983 Alg3 ALG3, alpha-1,3- mannosyltransferase
360475 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
Displaying all 5 entries
Gene ID Gene Symbol Description Source
36585 beta4GalNAcTA beta1,4-N-acetylgalactosaminyltransferase A
37754 Alg3 ALG3, alpha-1,3- mannosyltransferase
39436 Pmm2 Phosphomannomutase type 2
41104 ATP6AP2 ATPase H+ transporting accessory protein 2
42146 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
334161 alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
550425 b4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
553725 alg3 ALG3 alpha-1,3- mannosyltransferase
768123 b4galt1l DP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, like
Displaying all 8 entries
Gene ID Gene Symbol Description Source Organism
549418 b4galt1.2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 Xenopus tropicalis (tropical clawed frog)
594994 alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase Xenopus tropicalis (tropical clawed frog)
100127746 alg3 ALG3, alpha-1,3- mannosyltransferase Xenopus tropicalis (tropical clawed frog)
100145518 b4galt1.1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 Xenopus tropicalis (tropical clawed frog)
108706812 b4galt1.1.S UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 S homeolog Xenopus laevis (African clawed frog)
108706813 b4galt1.2.S UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 S homeolog Xenopus laevis (African clawed frog)
108712215 b4galt1.1.L UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 L homeolog Xenopus laevis (African clawed frog)
108712216 b4galt1.2.L UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
175065 algn-3 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
175920 algn-1 Chitobiosyldiphosphodolichol beta-mannosyltransferase
178364 F52B11.2 putative phosphomannomutase
190668 bre-4 Beta-1,4-N-acetylgalactosaminyltransferase bre-4
Displaying all 3 entries
Gene ID Gene Symbol Description Source
850499 SEC53 phosphomannomutase SEC53
852196 ALG3 dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase
852407 ALG1 chitobiosyldiphosphodolichol beta-1,4 mannosyltransferase
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024