congenital disorder of glycosylation type IIa

Summary
Synonym
  • Alkuraya syndrome
  • CDG IIa
  • CDG2A
  • CDGIIa
  • CDGS2
  • carbohydrate-deficient glycoprotein syndrome, type II
  • congenital disorder of glycosylation, type IIa
  • mental retardation, growth retardation, prominent columella, and open mouth
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070253
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
217664 Mgat2 mannoside acetylglucosaminyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
94273 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
43563 Mgat2 Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
100000478 mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Displaying all 4 entries
Gene ID Gene Symbol Description Source Organism
414590 mgat2.L mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase L homeolog Xenopus laevis (African clawed frog)
444674 mgat2.S mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase S homeolog Xenopus laevis (African clawed frog)
448439 mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase Xenopus tropicalis (tropical clawed frog)
100493854 mgat2l alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase like Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179562 gly-20 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 91 - 98 of 98 in total
HPO ID HPO Term
HP:0008070 Sparse hair
HP:0008897 Postnatal growth retardation
HP:0009623 Proximal placement of thumb
HP:0010808 Protruding tongue
HP:0010864 Intellectual disability, severe
HP:0011344 Severe global developmental delay
HP:0011858 Reduced factor IX activity
HP:0012301 Type II transferrin isoform profile
Displaying 1 entry
Gene ID Gene Symbol Description
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024