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Tay-Sachs disease
Summary
- Synonym
-
- GM2 gangliosidosis, type 1
- hexosaminidase A deficiency
- Definition
- A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
- Super Class
- GM2 gangliosidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06865 | Beta-hexosaminidase subunit alpha |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TKF6 | Beta-hexosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002835 | Aspiration |
| HP:0000980 | Pallor |
| HP:0003593 | Infantile onset |
| HP:0001252 | Hypotonia |
| HP:0000726 | Dementia |
| HP:0002361 | Psychomotor deterioration |
