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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:0012696 | Abnormal thalamic MRI signal intensity |
| HP:0012758 | Neurodevelopmental delay |
| HP:0100814 | Blue nevus |
| HP:0001260 | Dysarthria |
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0001508 | Failure to thrive |
| HP:0001761 | Pes cavus |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
