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MGAT2-congenital disorder of glycosylation

^ http://purl.obolibrary.org/obo/MONDO_0008908

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). [ Orphanet:79329 ]

Term info

database cross reference
  • GARD:0009828 (MONDO:equivalentTo)
  • UMLS:C2931008 (Orphanet:79329)
  • DOID:0070253 (MONDO:equivalentTo)
  • Orphanet:79329 (OMIM:212066)
  • OMIM:212066 (Orphanet:79329/e)
  • MESH:C535752 (MONDO:equivalentTo)
  • SCTID:724142005 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
CDGS2 [ GARD:0009828 ]

A synonym that is historic and discouraged
mental retardation, Growth retardation, prominent columella, and open mouth [ OMIM:212066 ]

abbreviation
CDG2A [ OMIM:212066 MONDO:Lexical Orphanet:79329 ]

abbreviation
MGAT2-CDG [ Orphanet:79329 ]

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).

exactMatch

http://identifiers.org/snomedct/724142005, http://linkedlifedata.com/resource/umls/id/C2931008, http://purl.obolibrary.org/obo/Orphanet_79329, https://omim.org/entry/212066, http://identifiers.org/mesh/C535752, http://purl.obolibrary.org/obo/DOID_0070253

has exact synonym

N-acetylglucosaminyltransferase 2 deficiency, carbohydrate deficient glycoprotein syndrome type IIa, CDG-IIa, CDG2A, MGAT2-CDG, congenital disorder of glycosylation type IIa, CDG syndrome type IIa, congenital disorder of glycosylation type 2a

has related synonym

Alkuraya syndrome, mental retardation, Growth retardation, prominent columella, and open mouth, CDG IIa, congenital disorder of glycosylation, type IIa, CDGS2, carbohydrate-deficient glycoprotein syndrome type 2, MGAT2-CDG (CDG-IIa), CDG 2A, carbohydrate-deficient glycoprotein syndrome, type II, carbohydrate-deficient glycoprotein syndrome, type II, formerly, carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly, intellectual disability, Growth retardation, prominent columella, and open mouth

id

MONDO:0008908