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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 |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 410 | ARSA | arylsulfatase A | |
| 411 | ARSB | arylsulfatase B | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 912 | CD1D | CD1d molecule | |
| 1118 | CHIT1 | chitinase 1 | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2548 | GAA | alpha glucosidase |
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 |
