Details of Disease | DrugMAP

General Information of Disease (ID: DISLXP0T)

Disease Name	COG6-ongenital disorder of glycosylation
Synonyms	COG6-CDG (CDG-IIL); congenital disorder of glycosylation, type IIL; CDG IIL; CDGIIl; CDG syndrome type IIL; CDG-IIL; COG6-congenital disorder of glycosylation; COG6-CDG; congenital disorder of glycosylation type 2l; CDG2L; congenital disorder of glycosylation type IIL
Disease Hierarchy	DISEDS77: Defect in conserved oligomeric Golgi complex DISEMWE1: Congenital disorder of glycosylation type II DISLXP0T: COG6-ongenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0013810 UMLS CUI C3553230 OMIM ID 614576 MedGen ID 766144 Orphanet ID 464443 SNOMED CT ID 1220574003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COG6	OTDLQITC	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. Hum Mol Genet. 2010 Sep 15;19(18):3623-33. doi: 10.1093/hmg/ddq278. Epub 2010 Jul 6.