Statements (59)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:organized_crime
|
| gptkbp:associated_with |
GM2 gangliosides accumulation
|
| gptkbp:caused_by |
mutations in the HEXA gene
|
| gptkbp:clinical_trial |
Phase II
Phase III ataxia ongoing studies Phase I behavioral changes dysphagia hypotonia cherry-red spot in the retina hyperreflexia |
| gptkbp:collaborations |
international research networks
multidisciplinary teams involved |
| gptkbp:diagnosis |
genetic testing
clinical evaluation biochemical analysis molecular genetic testing |
| gptkbp:first_described_by |
in the 1880s
|
| gptkbp:funding |
private donations
NIH grants |
| gptkbp:genetic_studies |
recommended for families
carrier testing available prenatal testing available |
| gptkbp:has_research_focus |
gptkb:National_Tay-Sachs_&_Allied_Diseases_Association
|
| https://www.w3.org/2000/01/rdf-schema#label |
GM2 gangliosidosis
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_affected_by |
gptkb:Ashkenazi_Jews
non-Jewish populations |
| gptkbp:is_tested_for |
elevated GM2 gangliosides
elevated hexosaminidase A levels |
| gptkbp:lifespan |
varies by type
|
| gptkbp:premiered_on |
infancy
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:provides_guidance_on |
guidelines for genetic counseling
guidelines for diagnosis recommendations for management |
| gptkbp:public_awareness |
educational campaigns ongoing
advocacy groups active |
| gptkbp:research_areas |
gptkb:neurodegenerative_diseases
lysosomal storage disorders |
| gptkbp:research_focus |
gptkb:gene_therapy
gptkb:Biology |
| gptkbp:symptoms |
seizures
muscle weakness vision loss neurological decline |
| gptkbp:treatment |
supportive care
substrate reduction therapy chaperone therapy small molecule therapies no cure currently available palliative care options available symptom management important |
| gptkbp:type |
gptkb:Sandhoff_disease
gptkb:Tay-Sachs_disease |
| gptkbp:bfsParent |
gptkb:Tay-Sachs_disease
|
| gptkbp:bfsLayer |
5
|