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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:0003510 | Severe short stature |
| HP:0001790 | Nonimmune hydrops fetalis |
| HP:0008166 | Decreased beta-galactosidase activity |
| HP:0001028 | Hemangioma |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001433 | Hepatosplenomegaly |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0000943 | Dysostosis multiplex |
| HP:0003271 | Visceromegaly |
