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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2760 | GM2A | ganglioside GM2 activator | |
| 3073 | HEXA | hexosaminidase subunit alpha | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 10724 | OGA | O-GlcNAcase | |
| 10825 | NEU3 | neuraminidase 3 | |
| 284004 | HEXD | hexosaminidase D |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P15289 | Arylsulfatase A | |
| P17900 | Ganglioside GM2 activator |
- 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 |
