COG7-congenital disorder of glycosylation
COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0005267
heart disorder
excluded_subClassOf
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017750
defect in conserved oligomeric Golgi complex
is_a
CDG 2E
related
CDG syndrome type IIe
exact
CDG-IIe
exact
CDG2E
exact
COG7-CDG
exact
COG7-CDG (CDG-IIe)
related
COG7-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IIe
exact
congenital disorder of glycosylation type 2e
exact
congenital disorder of glycosylation type IIe
exact
congenital disorder of glycosylation, type IIe
related