Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aspartylglucosaminuria
Summary
- Synonym
-
- aspartylglucosaminidase deficiency
- aspartylglycosaminuria
- glycosylasparaginase deficiency
- Definition
- A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
- Super Class
- lysosomal storage disease
External Links
- Disease Ontology
- DOID:0050461
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000926 | Platyspondyly |
| HP:0000943 | Dysostosis multiplex |
| HP:0001061 | Acne |
| HP:0001071 | Angiokeratoma corporis diffusum |
| HP:0001875 | Neutropenia |
| HP:0004322 | Short stature |
| HP:0001290 | Generalized hypotonia |
| HP:0002756 | Pathologic fracture |
| HP:0002059 | Cerebral atrophy |
| HP:0001252 | Hypotonia |
