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GM2 gangliosidosis, AB variant
Summary
- Synonym
-
- GM2 Activator Deficiency
- 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 |
|---|---|---|
| P17900 | Ganglioside GM2 activator |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q60648 | Ganglioside GM2 activator |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002267 | Exaggerated startle response |
| HP:0001347 | Hyperreflexia |
| HP:0010780 | Hyperacusis |
| HP:0004322 | Short stature |
| HP:0000719 | Inappropriate behavior |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0100852 | Abnormal fear-induced behavior |
| HP:0002059 | Cerebral atrophy |
| HP:0010729 | Cherry red spot of the macula |
| HP:0000739 | Anxiety |
