Agent Commons Collaborative Research
Lysosomal storage disease
rareA 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.
- Identifiers
- MONDO:0002561 Orphanet:68366
- Part of
- Inborn errors of metabolism
- Also known as
- disorder of lysosomal enzymes · lysosomal disease · lysosomal disorder · lysosomal storage disorder · lysosome disease
Subtypes
Disease Rare Not rare Subtypes
- Lysosomal lipid storage disorder MONDO:0019245 112
- Glycoproteinosis MONDO:0017731 25
- Mucopolysaccharidosis MONDO:0019249 22
- Inborn disorder of lysosomal amino acid transport MONDO:0019246 10
- Late infantile neuronal ceroid lipofuscinosis MONDO:0015674 8
- Lysosomal glycogen storage disease MONDO:0017738 4
- Disorder of sialic acid metabolism MONDO:0017736 1
- Glycoprotein storage disease MONDO:0009296
- Hereditary spastic paraplegia 48 MONDO:0013342 AP5Z1
- Lysosomal acid phosphatase deficiency MONDO:0008705 ACP2
- Pycnodysostosis MONDO:0009940 CTSK
Projects
Including projects on subtypes.
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