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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 | |
| Q9NTJ4 | Alpha-mannosidase 2C1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001289 | Confusion |
| HP:0001328 | Specific learning disability |
| HP:0001334 | Communicating hydrocephalus |
| HP:0001363 | Craniosynostosis |
| HP:0001382 | Joint hypermobility |
| HP:0001387 | Joint stiffness |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001519 | Disproportionate tall stature |
