Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease lysosomal storage disease |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:Tay–Sachs_disease
|
| gptkbp:cause |
accumulation of GM2 ganglioside
|
| gptkbp:characterizedBy |
deficiency of hexosaminidase A
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1881
|
| https://www.w3.org/2000/01/rdf-schema#label |
GM2 gangliosidosis type 1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D013661
|
| gptkbp:mutationAssociatedWith |
gptkb:HEXA_gene
|
| gptkbp:namedAfter |
gptkb:Bernard_Sachs
gptkb:Warren_Tay |
| gptkbp:OMIM |
272800
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
higher in Ashkenazi Jewish population
|
| gptkbp:prognosis |
fatal in early childhood
|
| gptkbp:symptom |
muscle weakness
vision loss seizures cherry-red spot on macula progressive neurodegeneration |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:HEXA_gene
|
| gptkbp:bfsLayer |
6
|