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lysosomal storage disease
Summary
- Synonym
-
- disorder of lysosomal enzyme
- inborn lysosomal enzyme disorder
- lysosomal storage metabolism disorder
- Definition
- An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
- Super Class
- inherited metabolic disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10724 | OGA | O-GlcNAcase | |
| 22901 | ARSG | arylsulfatase G | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
| 153642 | ARSK | arylsulfatase family member K | |
| 285362 | SUMF1 | sulfatase modifying factor 1 | |
| 340075 | ARSI | arylsulfatase family member I |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00462 | Beta-mannosidase | |
| O00754 | Lysosomal alpha-mannosidase | |
| O43451 | Maltase-glucoamylase | |
| O60502 | Protein O-GlcNAcase | |
| O60931 | Cystinosin | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04066 | Tissue alpha-L-fucosidase | |
| P06280 | Alpha-galactosidase A | |
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07602 | Prosaposin |
