Details of Disease

General Information of Disease (ID: DIS1TIYU)

• Disease Name: COG7-congenital disorder of glycosylation
• Synonyms: CDG 2E; CDG IIe; congenital disorder of glycosylation, type IIe; COG7-CDG (CDG-IIe); CDG syndrome type IIe; congenital disorder of glycosylation type 2e; CDG2E; congenital disorder of glycosylation type IIe; CDG-IIe; carbohydrate deficient glycoprotein syndrome type IIe; COG7-congenital disorder of glycosylation; COG7-CDG
• Definition: COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
• Disease Hierarchy:
  DISMFQKM: Developmental anomaly of metabolic origin
  DISEDS77: Defect in conserved oligomeric Golgi complex
  DISEMWE1: Congenital disorder of glycosylation type II
  DIS1TIYU: COG7-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0012118
  MESH ID: C535754
  UMLS CUI: C2931010
  OMIM ID: 608779
  MedGen ID: 419311
  Orphanet ID: 79333
  SNOMED CT ID: 717773005

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
COG7	OTCV4JC1	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.