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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 |
|---|---|---|---|
| 2581 | GALC | galactosylceramidase | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
| 2990 | GUSB | glucuronidase beta | |
| 3073 | HEXA | hexosaminidase subunit alpha | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 3292 | HSD17B1 | hydroxysteroid 17-beta dehydrogenase 1 |
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 |
