/ALG6-congenital disorder of glycosylation 1C

ALG6-congenital disorder of glycosylation 1C

Rare Disease

MONDO:0011291

Also Known As

ALG6 congenital disorder of glycosylationALG6-CDG (CDG-Ic)ALG6-CDG1CALG6-congenital disorder of glycosylation 1CCDG syndrome type IcCDG-IcCDG1CCDGIccarbohydrate deficient glycoprotein syndrome type Iccongenital disorder of glycosylation caused by mutation in ALG6congenital disorder of glycosylation type 1Ccongenital disorder of glycosylation type Icglucosyltransferase 1 deficiencyALG6-CDGCDG 1CCDG IcCDGS5 (formerly)carbohydrate-deficient glycoprotein syndrome type 1Ccarbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharidecarbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerlycarbohydrate-deficient glycoprotein syndrome, type Vcarbohydrate-deficient glycoprotein syndrome, type V (formerly)carbohydrate-deficient glycoprotein syndrome, type V, formerlycongenital disorder of glycosylation, type Ic

Definition

A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).