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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 |
|---|---|---|
| Q6UWY0 | Arylsulfatase K | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q96EG1 | Arylsulfatase G | |
| Q99519 | Sialidase-1 | |
| Q9NRA2 | Sialin | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
