MOGS-congenital disorder of glycosylation
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).
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG 2B
related
CDG syndrome type IIb
exact
CDG-IIb
exact
CDG2B
exact
GCS1-CDG
related
MOGS-CDG
exact
MOGS-CDG (CDG-IIb)
related
MOGS-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IIb
exact
congenital disorder of glycosylation type 2b
exact
congenital disorder of glycosylation type IIb
exact
congenital disorder of glycosylation, type IIb
related
glucosidase 1 deficiency
exact
SPAC6G10.09