Details of Disease | DrugMAP

General Information of Disease (ID: DISZD56L)

Disease Name	COG5-congenital disorder of glycosylation
Synonyms	COG5-CDG (CDG-III); congenital disorder of glycosylation, type III; CDG syndrome type 3; CDG III; congenital disorder of glycosylation type 2i; carbohydrate deficient glycoprotein syndrome type III; CDG syndrome type III; COG5-CDG; COG5-congenital disorder of glycosylation; CDG2I; CDG-III; congenital disorder of glycosylation type III
Definition	COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISEDS77: Defect in conserved oligomeric Golgi complex DISEMWE1: Congenital disorder of glycosylation type II DISZD56L: COG5-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0013325 UMLS CUI C3150876 OMIM ID 613612 MedGen ID 462226 Orphanet ID 263487 SNOMED CT ID 721100009

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
COG5	OTZEG7K0	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.