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GM2 gangliosidosis, AB variant
Summary
- Synonym
-
- Tay-Sachs disease AB variant
- Tay-Sachs disease, variant AB
- Definition
- A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.
- Super Class
- GM2 gangliosidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P17900 | Ganglioside GM2 activator |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002180 | Neurodegeneration |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001332 | Dystonia |
| HP:0010780 | Hyperacusis |
| HP:0002376 | Developmental regression |
| HP:0000739 | Anxiety |
| HP:0009062 | Infantile axial hypotonia |
| HP:0002267 | Exaggerated startle response |
| HP:0100543 | Cognitive impairment |
| HP:0002059 | Cerebral atrophy |
