MOGS-congenital disorder of glycosylation
MOGS-congenital disorder of glycosylation
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).
Also known as carbohydrate deficient glycoprotein syndrome type IIb, CDG syndrome type IIb, CDG-IIb, CDG2B, congenital disorder of glycosylation type 2b, congenital disorder of glycosylation type IIb, glucosidase 1 deficiency, MOGS-CDG, MOGS-congenital disorder of glycosylation — per MONDO