Details of Disease | DrugMAP

General Information of Disease (ID: DIS50OUW)

Disease Name	COG1-congenital disorder of glycosylation
Synonyms	congenital disorder of glycosylation, type IIg; CDG 2G; Cdgii/Cog1 Cerebrocostomandibular-like syndrome; COG1-CDG (CDG-IIg); CDG IIg; COG1-CDG; CDG-IIg; carbohydrate deficient glycoprotein syndrome type IIg; congenital disorder of glycosylation type 2g; CDG2G; CDG syndrome type IIg; congenital disorder of glycosylation type IIg; COG1-congenital disorder of glycosylation
Definition	COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISMT2VZ: Cardiogenetic disease DISMFQKM: Developmental anomaly of metabolic origin DISEDS77: Defect in conserved oligomeric Golgi complex DISEMWE1: Congenital disorder of glycosylation type II DIS50OUW: COG1-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0012637 MESH ID C535756 UMLS CUI C2931011 OMIM ID 611209 MedGen ID 443957 Orphanet ID 263508 SNOMED CT ID 718750004

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
COG1	OT3JSAF7	Definitive	Autosomal recessive	[1]
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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.