galactosialidosis
Information
- Disease name
- galactosialidosis
- Disease ID
- DOID:0080540
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/galactosialidosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/28603679]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01416467 | Completed | Characterization of the Patient Population With Galactosialidosis | February 8, 2012 | April 12, 2012 | |
| NCT01891422 | Completed | Longitudinal Studies of the Glycoproteinoses | August 2009 | July 2020 | |
| NCT04624789 | Recruiting | Registry Gangliosidoses | June 8, 2020 | June 7, 2025 |
- Disase is a (Disease Ontology)
- DOID:3211
- Cross Reference ID (Disease Ontology)
- GARD:3953
- Cross Reference ID (Disease Ontology)
- MIM:256540
- OrphaNumber from OrphaNet (Orphanet)
- 351