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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:0001276 | Hypertonia |
| HP:0010729 | Cherry red spot of the macula |
| HP:0000741 | Apathy |
| HP:0002421 | Poor head control |
| HP:0000618 | Blindness |
| HP:0002267 | Exaggerated startle response |
| HP:0003495 | GM2-ganglioside accumulation |
| HP:0001250 | Seizure |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001290 | Generalized hypotonia |
