/COG7-congenital disorder of glycosylation

COG7-congenital disorder of glycosylation

Rare Disease

MONDO:0012118

Also Known As

CDG syndrome type IIeCDG-IIeCDG2ECOG7-CDGCOG7-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IIecongenital disorder of glycosylation type 2econgenital disorder of glycosylation type IIeCDG 2ECDG IIeCOG7-CDG (CDG-IIe)congenital disorder of glycosylation, type IIe

Definition

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.