|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:neurodegenerative_disease
gptkb:lysosomal_storage_disease
|
|
gptkbp:accumulationOf
|
gptkb:GM2_ganglioside
|
|
gptkbp:carrierFrequency
|
1 in 30 (Ashkenazi Jews)
1 in 300 (general population)
|
|
gptkbp:characterizedBy
|
paralysis
muscle weakness
hearing loss
vision loss
seizures
cherry-red spot on macula
progressive neurodegeneration
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
|
gptkbp:enzymeDeficiency
|
gptkb:hexosaminidase_A
|
|
gptkbp:firstDescribed
|
gptkb:Bernard_Sachs
gptkb:Warren_Tay
|
|
gptkbp:frequency
|
rare
|
|
gptkbp:hasNoCure
|
true
|
|
gptkbp:ICD-10_code
|
E75.0
|
|
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
|
adult
infancy
juvenile
|
|
gptkbp:prevalence
|
gptkb:Ashkenazi_Jewish_population
gptkb:Cajun_population
French Canadian population
|
|
gptkbp:prognosis
|
fatal in early childhood (infantile form)
|
|
gptkbp:relatedTo
|
gptkb:Sandhoff_disease
gptkb:GM2_gangliosidosis
|
|
gptkbp:screeningAvailable
|
true
|
|
gptkbp:symptom
|
gptkb:intellectual_disability
spasticity
startle response
developmental regression
macrocephaly
dysphagia
|
|
gptkbp:symptomOnsetAge
|
3 to 6 months (infantile form)
|
|
gptkbp:treatment
|
supportive care
|
|
gptkbp:bfsParent
|
gptkb:Bernard_Sachs
gptkb:GM2_gangliosidosis,_type_I
gptkb:Warren_Tay
gptkb:hexosaminidase_A
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Tay–Sachs disease
|