Details of Disease | DrugMAP

General Information of Disease (ID: DISF7BSZ)

Disease Name	Congenital disorder of deglycosylation
Disease Hierarchy	DISO5FAY: Inborn error of metabolism DISF7BSZ: Congenital disorder of deglycosylation
Disease Identifiers	MONDO ID MONDO_0031376 MESH ID C000626124 UMLS CUI C3808991 OMIM ID 615273 MedGen ID 815321 SNOMED CT ID 768846004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGM1	DEA3VM1	Strong	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENGASE	OTKXNR5B	moderate	Biomarker	[2]
NGLY1	OTZBQD5Q	Definitive	Biomarker	[3]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.PLoS Genet. 2017 Apr 20;13(4):e1006696. doi: 10.1371/journal.pgen.1006696. eCollection 2017 Apr.
3	Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165588. doi: 10.1016/j.bbadis.2019.165588. Epub 2019 Nov 13.