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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:0000618 | Blindness |
| HP:0003819 | Death in childhood |
| HP:0001278 | Orthostatic hypotension |
| HP:0010829 | Impaired temperature sensation |
| HP:0001640 | Cardiomegaly |
| HP:0002574 | Episodic abdominal pain |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002028 | Chronic diarrhea |
| HP:0000158 | Macroglossia |
| HP:0001252 | Hypotonia |
