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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:0000670 | Carious teeth |
| HP:0000708 | Atypical behavior |
| HP:0000750 | Delayed speech and language development |
| HP:0000768 | Pectus carinatum |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001369 | Arthritis |
| HP:0001387 | Joint stiffness |
| HP:0001537 | Umbilical hernia |
| HP:0001744 | Splenomegaly |
