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MOGS-CDG

Disease 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).

ORPHA:79330

Classification level: Disorder
  • Synonym(s):
    • 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
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 606056
  • UMLS: C1853736
  • MeSH: -
  • GARD: 10767
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.