Details of Disease

General Information of Disease (ID: DISKRRTD)

• Disease Name: MOGS-congenital disorder of glycosylation
• Synonyms: CDG IIb; CDG 2B; congenital disorder of glycosylation, type IIb; GCS1-CDG; MOGS-CDG (CDG-IIb); congenital disorder of glycosylation type 2b; glucosidase 1 deficiency; MOGS-congenital disorder of glycosylation; CDG2B; MOGS-CDG; CDG-IIb; congenital disorder of glycosylation type IIb; carbohydrate deficient glycoprotein syndrome type IIb; CDG syndrome 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).
• Disease Hierarchy:
  DISEMWE1: Congenital disorder of glycosylation type II
  DIST8BQR: Disorder of protein N-glycosylation
  DISKRRTD: MOGS-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0011629
  MESH ID: C565264
  UMLS CUI: C1853736
  OMIM ID: 606056
  MedGen ID: 342954
  Orphanet ID: 79330
  SNOMED CT ID: 725028009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MOGS	OT99MBGB	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.