MOGS-CDG

What is MOGS-CDG?

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 <i> MOGS </i> (2p13.1).

Other condition names

  • CDG syndrome type IIb
  • CDG-IIb
  • CDG2B
  • Carbohydrate deficient glycoprotein syndrome type IIb
  • Congenital disorder of glycosylation type 2b
  • Congenital disorder of glycosylation type IIb
  • Glucosidase 1 deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.