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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:0001537 | Umbilical hernia |
| HP:0001653 | Mitral regurgitation |
| HP:0001659 | Aortic regurgitation |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001876 | Pancytopenia |
| HP:0002090 | Pneumonia |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002308 | Chiari malformation |
| HP:0002312 | Clumsiness |
| HP:0002329 | Drowsiness |
