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beta-mannosidosis
Summary
- Synonym
-
- Beta-D-mannosidosis
- beta-mannosidase deficiency
- lysosomal beta-mannosidase deficiency
- Definition
- A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
- Super Class
- lysosomal storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00462 | Beta-mannosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8K2I4 | Beta-mannosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001999 | Abnormal facial shape |
| HP:0001249 | Intellectual disability |
| HP:0005247 | Hypoplasia of the abdominal wall musculature |
| HP:0000365 | Hearing impairment |
| HP:0002205 | Recurrent respiratory infections |
| HP:0001250 | Seizure |
| HP:0012066 | Increased urinary disaccharide excretion |
| HP:0000718 | Aggressive behavior |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0001290 | Generalized hypotonia |
