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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 1118 | CHIT1 | chitinase 1 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5476 | CTSA | cathepsin A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00754 | Lysosomal alpha-mannosidase | |
| P00492 | Hypoxanthine-guanine phosphoribosyltransferase | |
| P04066 | Tissue alpha-L-fucosidase | |
| P10619 | Lysosomal protective protein | |
| P16278 | Beta-galactosidase | |
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
| Q13231 | Chitotriosidase-1 | |
| Q99519 | Sialidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001763 | Pes planus |
| HP:0001999 | Abnormal facial shape |
| HP:0002024 | Malabsorption |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002240 | Hepatomegaly |
| HP:0002360 | Sleep abnormality |
| HP:0002650 | Scoliosis |
| HP:0002684 | Thickened calvaria |
| HP:0002750 | Delayed skeletal maturation |
