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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 |
|---|---|---|---|
| 5476 | CTSA | cathepsin A | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5660 | PSAP | prosaposin | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 6476 | SI | sucrase-isomaltase | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10457 | GPNMB | glycoprotein nmb |
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 |
