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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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007256 | Abnormal pyramidal sign |
| HP:0100543 | Cognitive impairment |
| HP:0100785 | Insomnia |
| HP:0100786 | Hypersomnia |
| HP:0000739 | Anxiety |
| HP:0001268 | Mental deterioration |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0002066 | Gait ataxia |
