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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:0002019 | Constipation |
| HP:0002059 | Cerebral atrophy |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002311 | Incoordination |
| HP:0002380 | Fasciculations |
| HP:0002460 | Distal muscle weakness |
| HP:0003121 | Limb joint contracture |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0007256 | Abnormal pyramidal sign |
