Details of Disease | DrugMAP

General Information of Disease (ID: DIS0L4MR)

Disease Name	COG8-congenital disorder of glycosylation
Synonyms	congenital disorder of glycosylation, type IIh; CDG IIh; COG8-CDG (CDG-IIh); COG8-congenital disorder of glycosylation; CDG2H; COG8-CDG; congenital disorder of glycosylation type 2h; CDG-IIh; congenital disorder of glycosylation type IIh; CDG syndrome type IIh; carbohydrate deficient glycoprotein syndrome type IIh
Definition	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
Disease Hierarchy	DISEDS77: Defect in conserved oligomeric Golgi complex DISEMWE1: Congenital disorder of glycosylation type II DIS0L4MR: COG8-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0012635 MESH ID C566987 UMLS CUI C1970021 OMIM ID 611182 MedGen ID 409971 Orphanet ID 95428 SNOMED CT ID 717774004

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
COG8	OTDEA7YO	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.