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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2760 | GM2A | ganglioside GM2 activator | |
| 3073 | HEXA | hexosaminidase subunit alpha | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
| 10724 | OGA | O-GlcNAcase | |
| 284004 | HEXD | hexosaminidase D |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P15289 | Arylsulfatase A | |
| P16278 | Beta-galactosidase | |
| P17900 | Ganglioside GM2 activator |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002311 | Incoordination |
| HP:0002376 | Developmental regression |
| HP:0002380 | Fasciculations |
| HP:0002460 | Distal muscle weakness |
| HP:0003121 | Limb joint contracture |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003394 | Muscle spasm |
| HP:0003429 | CNS hypomyelination |
