Statements (66)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
gptkb:computer
|
| gptkbp:associated_with |
gptkb:depression
gptkb:neurodegenerative_diseases gptkb:pneumonia cognitive decline sleep disturbances aggression respiratory failure ataxia deafness severe pain behavioral issues skin lesions social withdrawal failure to thrive neurodegeneration motor dysfunction autism spectrum disorder dysphagia loss of independence dysarthria hypotonia scoliosis spasticity contractures cardiac issues loss of motor skills hyperactivity hepatosplenomegaly severe fatigue severe anxiety loss of speech cherry-red spot in the eye loss of self-care skills loss of social skills need for full-time care severe developmental delay |
| gptkbp:caused_by |
hexosaminidase A and B deficiency
|
| gptkbp:clinical_trial |
ongoing studies
gene therapy trials enzyme replacement trials |
| gptkbp:condition |
gptkb:GM2_gangliosidosis
gptkb:Tay-Sachs_disease |
| gptkbp:diagnosis |
genetic testing
enzyme assay |
| gptkbp:disorder_category |
gptkb:Oncology
|
| gptkbp:first_described_by |
gptkb:1968
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sandhoff disease
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_a_basis_for |
mutations in HEXA gene
mutations in HEXB gene |
| gptkbp:is_tested_for |
elevated GM2 gangliosides
elevated hexosaminidase levels |
| gptkbp:lifespan |
shortened
|
| gptkbp:premiered_on |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:research_focus |
gptkb:gene_therapy
gptkb:Biology |
| gptkbp:symptoms |
seizures
muscle weakness vision loss progressive neurological decline |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:GM2_gangliosidosis
|
| gptkbp:bfsLayer |
6
|