lysosomal storage disease
MONDO:0002561Mondo
Findings
No curated finding names lysosomal storage disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0002561), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC38A9HGNC:26907
- No Known Disease Relationship · ClinGen · Unknown · 2022
Where it sits
- A kind of
- Narrower terms (11)
- disorder of sialic acid metabolism
- glycoprotein storage disease
- glycoproteinosis
- hereditary spastic paraplegia 48
- inborn disorder of lysosomal amino acid transport
- late infantile neuronal ceroid lipofuscinosis
- lysosomal acid phosphatase deficiency
- lysosomal glycogen storage disease
- lysosomal lipid storage disorder
- mucopolysaccharidosis
- pycnodysostosis
Other names
6 names
Resolves to: lysosomal storage disease
- Also called
- disorder of lysosomal enzymeslysosomal diseaselysosomal disorderlysosomal storage disorderlysosome diseaselysosome disorder