Disease association ontology term - MONDO:0012556 - DK1-congenital disorder of glycosylation

Term summary

ID

MONDO:0012556

Name

DK1-congenital disorder of glycosylation

Ontology or CV name

Disease association

Definition

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.

Parents

• is_a syndromic disease
• is_a congenital disorder of glycosylation type I
• is_a familial dilated cardiomyopathy
• is_a disorder of multiple glycosylation
• is_a hereditary skin disorder

Annotation