Details of Disease | DrugMAP

General Information of Disease (ID: DISE7M0S)

Disease Name	MPDU1-congenital disorder of glycosylation
Synonyms	CDG 1F; congenital disorder of glycosylation, type If; carbohydrate-deficient glycoprotein syndrome type 1F; CDG If; MPDU1-CDG (CDG-If); congenital disorder of glycosylation type 1f; MPDU1-CDG; CDG1F; congenital disorder of glycosylation type If; carbohydrate deficient glycoprotein syndrome type If; CDG syndrome type If; CDG-If; CDGIf
Definition	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
Disease Hierarchy	DISO85MT: Disorder of multiple glycosylation DISBHHT1: Congenital disorder of glycosylation type I DISE7M0S: MPDU1-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0012211 MESH ID C535744 UMLS CUI C1836669 OMIM ID 609180 MedGen ID 322968 Orphanet ID 79323 SNOMED CT ID 724096007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG3	OTPOL1QW	moderate	Biomarker	[1]
MPDU1	OT27UPHN	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.Glycobiology. 2005 Nov;15(11):1084-93. doi: 10.1093/glycob/cwj006. Epub 2005 Aug 3.
2	MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest. 2001 Dec;108(11):1687-95. doi: 10.1172/JCI13419.