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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 | |
| 2717 | GLA | galactosidase alpha | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 4286 | MITF | melanocyte inducing transcription factor | |
| 5476 | CTSA | cathepsin A | |
| 5660 | PSAP | prosaposin | |
| 7030 | TFE3 | transcription factor binding to IGHM enhancer 3 | |
| 7942 | TFEB | transcription factor EB | |
| 23062 | GGA2 | golgi associated, gamma adaptin ear containing, ARF binding protein 2 | |
| 23163 | GGA3 | golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11593 | Aga | aspartylglucosaminidase | |
| 11605 | Gla | galactosidase, alpha | |
| 15212 | Hexb | hexosaminidase B | |
| 17342 | Mitf | melanogenesis associated transcription factor | |
| 19025 | Ctsa | cathepsin A | |
| 19156 | Psap | prosaposin | |
| 76943 | Psapl1 | prosaposin-like 1 | |
| 209446 | Tfe3 | transcription factor E3 | |
| 212555 | Slc66a1 | solute carrier family 66 member 1 | |
| 235504 | Slc17a5 | solute carrier family 17 (anion/sugar transporter), member 5 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 173818 | ctsa-1.1 | Serine carboxypeptidase ctsa-1.1 | |
| 174057 | ctsa-4.1 | Serine carboxypeptidase ctsa-4.1 | |
| 174189 | ctsa-3.1 | Serine carboxypeptidase ctsa-3.1 | |
| 174802 | ctsa-1.2 | Serine carboxypeptidase ctsa-1.2 | |
| 176317 | slc-17.2 | putative transporter slc-17.2 | |
| 179660 | gana-1 | Alpha-galactosidase | |
| 180533 | hex-1 | Beta-hexosaminidase A | |
| 180550 | R04B3.2 | Glycosylasparaginase beta chain | |
| 3565323 | laat-1 | Lysosomal amino acid transporter 1 |
