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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:0002371 | Loss of speech |
| HP:0002553 | Highly arched eyebrow |
| HP:0002679 | Abnormal sella turcica morphology |
| HP:0002684 | Thickened calvaria |
| HP:0002719 | Recurrent infections |
| HP:0002721 | Immunodeficiency |
| HP:0002797 | Osteolysis |
| HP:0002857 | Genu valgum |
| HP:0003198 | Myopathy |
| HP:0004437 | Cranial hyperostosis |
