Details of Disease | DrugMAP

General Information of Disease (ID: DISVNSO7)

Disease Name	MGAT2-congenital disorder of glycosylation
Synonyms	Alkuraya syndrome; mental retardation, Growth retardation, prominent columella, and open mouth; intellectual disability, Growth retardation, prominent columella, and open mouth; CDG IIa; carbohydrate-deficient glycoprotein syndrome type 2; carbohydrate-deficient glycoprotein syndrome, type II; carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly; CDG 2A; MGAT2-CDG (CDG-IIa); CDGS2; congenital disorder of glycosylation, type IIa; carbohydrate-deficient glycoprotein syndrome, type II, formerly; congenital disorder of glycosylation type IIa; N-acetylglucosaminyltransferase 2 deficiency; congenital disorder of glycosylation type 2a; CDG-IIa; MGAT2-CDG; carbohydrate deficient glycoprotein syndrome type IIa; CDG2A; CDG syndrome type IIa
Definition	MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISMFQKM: Developmental anomaly of metabolic origin DISEMWE1: Congenital disorder of glycosylation type II DIST8BQR: Disorder of protein N-glycosylation DISVNSO7: MGAT2-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0008908 MESH ID C535752 UMLS CUI C2931008 OMIM ID 212066 MedGen ID 443956 Orphanet ID 79329 SNOMED CT ID 277894008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MGAT2	TTJOW1I	Definitive	Autosomal recessive	[1]
MGAT2	TTJOW1I	Definitive	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MGAT2	OTKXMSM7	Definitive	Autosomal recessive	[1]
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References

1	Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am J Hum Genet. 1996 Oct;59(4):810-7.
2	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.