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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
alpha-mannosidosis
Summary
- Synonym
-
- Alpha-D-mannosidosis
- alpha-mannosidase deficiency
- deficiency of alpha-mannosidase
- Definition
- A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
- Super Class
- lysosomal storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00754 | Lysosomal alpha-mannosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007232 | Spinocerebellar tract disease in lower limbs |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007371 | Corpus callosum atrophy |
| HP:0007772 | Impaired smooth pursuit |
| HP:0011800 | Midface retrusion |
| HP:0012448 | Delayed myelination |
