Properties (45)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advocacy |
supported_by_organizations_like_NTSAD
|
| gptkbp:associatedWith |
GM2 gangliosidosis
|
| gptkbp:causedBy |
gptkb:mutation_in_the_HEXA_gene
|
| gptkbp:characterDevelopment |
rapid deterioration of abilities
|
| gptkbp:clinicalTrials |
conducted for potential treatments
include cherry-red spot in the eye |
| gptkbp:community_service |
elevated GM2 gangliosides
|
| gptkbp:communitySupport |
important for affected families
|
| gptkbp:demographics |
higher_in_Ashkenazi_Jews
|
| gptkbp:diseaseResistance |
genetic testing
|
| gptkbp:educational_programs |
available for families
|
| gptkbp:energyEfficiency |
hexosaminidase A
|
| gptkbp:firstDescribedBy |
in the 1880s
|
| gptkbp:funding |
sought for research and support services
|
| gptkbp:geneticDiversity |
autosomal recessive
recommended for at-risk couples |
| gptkbp:globalPresence |
promoted through campaigns
|
| gptkbp:hasService |
based on clinical and genetic findings
|
| gptkbp:historicalSignificance |
important in genetics and public health.
|
| https://www.w3.org/2000/01/rdf-schema#label |
Tay-Sachs disease
|
| gptkbp:impact |
supportive care
nervous system limited to palliative care significant emotional burden |
| gptkbp:isImportantFor |
1 in 27 for Ashkenazi Jews
|
| gptkbp:legalEvent |
typically 4 to 5 years
|
| gptkbp:namedAfter |
gptkb:Dr._Warren_Tay
gptkb:Dr._Bernard_Sachs |
| gptkbp:publicAccess |
increased through advocacy groups
|
| gptkbp:research |
from government and private sources
can identify carriers ongoing for gene therapy |
| gptkbp:researchFocus |
understanding neurodegeneration
|
| gptkbp:screenings |
available for high-risk populations
|
| gptkbp:symptoms |
seizures
hearing loss muscle weakness vision loss loss of motor skills typically around 6 months |
| gptkbp:type |
autosomal recessive disorder
|
| gptkbp:variant |
adult form
infantile form juvenile form |