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galactosialidosis
Summary
- Definition
- A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
- Super Class
- lysosomal storage disease
External Links
- Disease Ontology
- DOID:0080540
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00492 | Hypoxanthine-guanine phosphoribosyltransferase | |
| P10619 | Lysosomal protective protein | |
| P16278 | Beta-galactosidase | |
| Q99519 | Sialidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0007957 | Corneal opacity |
| HP:0000365 | Hearing impairment |
| HP:0002652 | Skeletal dysplasia |
| HP:0000280 | Coarse facial features |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0010729 | Cherry red spot of the macula |
| HP:0001250 | Seizure |
| HP:0000524 | Conjunctival telangiectasia |
