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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 |
|---|---|---|---|
| 3373 | HYAL1 | hyaluronidase 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3988 | LIPA | lipase A, lysosomal acid type | |
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
| 4126 | MANBA | mannosidase beta | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5305 | PIP4K2A | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha |
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 |
