congenital disorder of glycosylation type I

Summary
Definition
A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
Super Class
congenital disorder of glycosylation
Disease Ontology
DOID:0050570
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54344 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Displaying 1 entry
Gene ID Gene Symbol Description Source
54128 Pmm2 phosphomannomutase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
39436 Pmm2 Phosphomannomutase type 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
445202 dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Displaying all 7 entries
Gene ID Gene Symbol Description Source
852261 RFT1 glycolipid translocation protein
852407 ALG1 chitobiosyldiphosphodolichol beta-1,4 mannosyltransferase
854163 ALG6 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase
854233 ALG8 dolichyl-P-Glc:Glc1Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase
855502 ALG9 dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
855764 ALG12 dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
855874 ALG5 dolichyl-phosphate beta-glucosyltransferase
Related Glycoprotein

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 7, 2025