Details of Disease | DrugMAP

General Information of Disease (ID: DISCDKYJ)

Disease Name	Congenital disorder of deglycosylation 2
Synonyms	congenital disorder of deglycosylation 2; CDDG2
Disease Hierarchy	DISF7BSZ: Congenital disorder of deglycosylation DISCDKYJ: Congenital disorder of deglycosylation 2
Disease Identifiers	MONDO ID MONDO_0030770 UMLS CUI C5676931 OMIM ID 619775 MedGen ID 1809253

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
MAN2C1	OT17VT8D	Moderate	Autosomal recessive	[1]
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References

1	Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18.