Details of Disease | DrugMAP

General Information of Disease (ID: DISYJU14)

Disease Name	DDOST-congenital disorder of glycosylation
Synonyms	DDOST-CDG (CDG-Ir); carbohydrate deficient glycoprotein syndrome type; congenital disorder of glycosylation, type Ir; CDG1R; congenital disorder of glycosylation type 1r; congenital disorder of glycosylation type Ir; DDOST-congenital disorder of glycosylation; CDG syndrome type Ir; carbohydrate deficient glycoprotein syndrome type Ir; CDG-Ir; DDOST-CDG
Definition	DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DIST8BQR: Disorder of protein N-glycosylation DISYJU14: DDOST-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0013789 UMLS CUI C3281084 OMIM ID 614507 MedGen ID 482714 Orphanet ID 300536 SNOMED CT ID 733083006

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
DDOST	OT39PDMS	Definitive	Autosomal recessive	[1]
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References

1	DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012 Feb 10;90(2):363-8. doi: 10.1016/j.ajhg.2011.12.024. Epub 2012 Feb 2.