ALG6-congenital disorder of glycosylation 1C
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).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG6 congenital disorder of glycosylation
exact
ALG6-CDG (CDG-Ic)
exact
ALG6-CDG1C
exact
ALG6-congenital disorder of glycosylation 1C
exact
CDG 1C
related
CDG syndrome type Ic
exact
CDG-Ic
exact
CDG1C
exact
CDGIc
exact
CDGS5 (formerly)
related
carbohydrate deficient glycoprotein syndrome type Ic
exact
carbohydrate-deficient glycoprotein syndrome type 1C
related
carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)
related
carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide
related
carbohydrate-deficient glycoprotein syndrome, type V (formerly)
related
congenital disorder of glycosylation caused by mutation in ALG6
exact
congenital disorder of glycosylation type 1C
exact
congenital disorder of glycosylation type Ic
exact
congenital disorder of glycosylation, type Ic
related
glucosyltransferase 1 deficiency
exact
SPBC342.01c