/MOGS-congenital disorder of glycosylation

MOGS-congenital disorder of glycosylation

Rare Disease

MONDO:0011629

Also Known As

CDG syndrome type IIbCDG-IIbCDG2BMOGS-CDGMOGS-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IIbcongenital disorder of glycosylation type 2bcongenital disorder of glycosylation type IIbglucosidase 1 deficiencyCDG 2BCDG IIbGCS1-CDGMOGS-CDG (CDG-IIb)congenital disorder of glycosylation, type IIb

Definition

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).