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congenital disorder of glycosylation type 1C; carbohydrate-deficient glycoprotein syndrome type V
Also see congenital disorder of glycosylation
Pathology:
- metabolic deficiencies in glycoprotein biosynthesis
- under-glycosylated plasma glycoproteins
- accumulation of dolichyl pyrophosphate-linked man(9)GlcNAc(2) in the endoplasmic reticulum
Genetics:
- associated with mutation in gene for ALG6
Clinical manifestations:
- muscular hypotonia
- mental retardation
- psychomotor retardation
Related
dolichyl pyrophosphate man9GlcNAc2 alpha-1,3-glucosyltransferase; asparagine-linked glycosylation protein 6 homolog; dol-P-Glc:man(9)GlcNAc(2)-PP-dol alpha-1,3-glucosyltransferase; dolichyl-P-Glc:man9GlcNAc2-PP-dolichyl glucosyltransferase (ALG6)
General
congenital disorder of glycosylation
Database Correlations
OMIM 603147
References
OMIM :accession 603147