lysosomal storage disease
MONDO:0002561Also known as: disorder of lysosomal enzymes, lysosomal disease, lysosomal disorder, lysosomal storage disorder, lysosome disease
- MONDO:
- MONDO:0002561
- Orphanet:
- 68366 ↗
Rare disease347 associated genes
Description
A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Associated genes
+337 more genes — install the extension to see the full list inline on any page.