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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:0011334 | Facial shape deformation |
| HP:0011842 | Abnormal skeletal morphology |
| HP:0012157 | Subcortical cerebral atrophy |
| HP:0012368 | Flat face |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000212 | Gingival overgrowth |
| HP:0000272 | Malar flattening |
| HP:0000286 | Epicanthus |
