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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 |
|---|---|---|
| P17900 | Ganglioside GM2 activator |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0010729 | Cherry red spot of the macula |
| HP:0002371 | Loss of speech |
| HP:0001276 | Hypertonia |
| HP:0000741 | Apathy |
| HP:0002835 | Aspiration |
| HP:0000618 | Blindness |
| HP:0003495 | GM2-ganglioside accumulation |
| HP:0001252 | Hypotonia |
| HP:0001290 | Generalized hypotonia |
