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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
| 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) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q10469 | Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001976 | Reduced antithrombin III activity |
| HP:0002317 | Unsteady gait |
| HP:0002673 | Coxa valga |
| HP:0003100 | Slender long bone |
| HP:0003423 | Thoracolumbar kyphoscoliosis |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0004841 | Reduced factor XII activity |
| HP:0006610 | Wide intermamillary distance |
| HP:0007466 | Midfrontal capillary hemangioma |
