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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:0000023 | Inguinal hernia |
| HP:0000053 | Macroorchidism |
| HP:0000158 | Macroglossia |
| HP:0000164 | Abnormality of the dentition |
| HP:0000212 | Gingival overgrowth |
| HP:0000280 | Coarse facial features |
| HP:0000303 | Mandibular prognathia |
| HP:0000316 | Hypertelorism |
| HP:0000389 | Chronic otitis media |
| HP:0000431 | Wide nasal bridge |
