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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:0002267 | Exaggerated startle response |
| HP:0002376 | Developmental regression |
| HP:0003429 | CNS hypomyelination |
| HP:0004481 | Progressive macrocephaly |
| HP:0007083 | Hyperactive patellar reflex |
| HP:0009062 | Infantile axial hypotonia |
| HP:0010729 | Cherry red spot of the macula |
| HP:0010780 | Hyperacusis |
| HP:0012696 | Abnormal thalamic MRI signal intensity |
| HP:0012758 | Neurodevelopmental delay |
