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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:0000194 | Open mouth |
| HP:0000253 | Progressive microcephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000316 | Hypertelorism |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000363 | Abnormal earlobe morphology |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000395 | Prominent antihelix |
| HP:0000444 | Convex nasal ridge |
| HP:0000494 | Downslanted palpebral fissures |
