DK1-congenital disorder of glycosylation
DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.
MONDO:0002254
syndromic disease
is_a
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
MONDO:0100118
hereditary skin disorder
is_a
CDG syndrome type Im
exact
CDG-Im
exact
CDG1M
exact
CDGIm
related
DK1-CDG
exact
DK1-congenital disorder of glycosylation
exact
DOLK-CDG (CDG-Im)
related
carbohydrate deficient glycoprotein syndrome type Im
exact
congenital disorder of glycosylation type 1m
exact
congenital disorder of glycosylation type Im
exact
congenital disorder of glycosylation, type Im
related
dolichol kinase deficiency
exact
hypotonia and ichthyosis due to dolichol phosphate deficiency
exact
SPCC63.10c