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Sandhoff disease
Summary
- Synonym
-
- Sandhoff Jatzkewitz disease
- Definition
- A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
- Super Class
- GM2 gangliosidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07686 | Beta-hexosaminidase subunit beta |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TXR9 | Beta-hexosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000280 | Coarse facial features |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001336 | Myoclonus |
| HP:0001347 | Hyperreflexia |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001634 | Mitral valve prolapse |
| HP:0001653 | Mitral regurgitation |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002120 | Cerebral cortical atrophy |
