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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:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003394 | Muscle spasm |
| HP:0003484 | Upper limb muscle weakness |
| HP:0004373 | Focal dystonia |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0100295 | Muscle fiber atrophy |
| HP:0007272 | Progressive psychomotor deterioration |
| HP:0000966 | Hypohidrosis |
| HP:0000256 | Macrocephaly |
