Statements (58)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:advocacy |
exist
|
| gptkbp:affects |
gptkb:computer
|
| gptkbp:associated_with |
gptkb:GM2_gangliosidosis
cognitive decline muscle weakness behavioral issues failure to thrive neurodegeneration hypotonia apnea autonomic dysfunction spasticity hyperreflexia cherry-red spot in the eye death in early childhood |
| gptkbp:carrier_frequency |
1 in 27 for Ashkenazi Jews
|
| gptkbp:caused_by |
mutation in the HEXA gene
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:diagnosis |
genetic testing
enzyme assay biochemical testing |
| gptkbp:first_described_by |
1881
|
| gptkbp:funding |
increasing
|
| gptkbp:genetic_disorder_type |
lysosomal storage disorder
|
| gptkbp:genetic_studies |
available for families
recommended for at-risk couples |
| https://www.w3.org/2000/01/rdf-schema#label |
Tay-Sachs disease
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:lifespan |
shortened
|
| gptkbp:named_after |
gptkb:Bernard_Sachs
|
| gptkbp:player_development |
rapid deterioration
|
| gptkbp:premiered_on |
infancy
|
| gptkbp:prevalence |
higher in Ashkenazi Jews
|
| gptkbp:public_awareness |
important for prevention
|
| gptkbp:research_areas |
gptkb:Genetics
molecular biology biochemistry public health pediatric neurology |
| gptkbp:research_focus |
gptkb:gene_therapy
gptkb:Biology |
| gptkbp:symptoms |
physical therapy
seizures occupational therapy speech therapy intellectual disability deafness vision loss loss of motor skills |
| gptkbp:treatment |
supportive care
focused on community education focused on disease-modifying therapies focused on genetic interventions focused on patient support services focused on symptom relief |
| gptkbp:bfsParent |
gptkb:Ashkenazi_Jewish
|
| gptkbp:bfsLayer |
4
|