Details of Disease

General Information of Disease (ID: DIS5TU0H)

• Disease Name: COG4-congenital disorder of glycosylation
• Synonyms: CDG IIj; COG4-CDG (CDG-IIj); congenital disorder of glycosylation, type IIj; CDG-IIj; CDG syndrome type IIj; CDG2J; carbohydrate deficient glycoprotein syndrome type IIj; congenital disorder of glycosylation type 2j; COG4-CDG; COG4-congenital disorder of glycosylation; congenital disorder of glycosylation type IIj
• Definition: COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
• Disease Hierarchy:
  DISEDS77: Defect in conserved oligomeric Golgi complex
  DISEMWE1: Congenital disorder of glycosylation type II
  DIS5TU0H: COG4-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0013281
  UMLS CUI: C4303552
  OMIM ID: 613489
  MedGen ID: 929221
  Orphanet ID: 263501
  SNOMED CT ID: 718751000

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
COG4	OT6U94UE	Definitive	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.