|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:neurodegenerative_disease
gptkb:lysosomal_storage_disease
|
|
gptkbp:affects
|
gptkb:nervous_system
|
|
gptkbp:carrierFrequencyInAshkenaziJews
|
1 in 30
|
|
gptkbp:carrierFrequencyInGeneralPopulation
|
1 in 250
|
|
gptkbp:cause
|
accumulation of GM2 ganglioside
|
|
gptkbp:characterizedBy
|
paralysis
seizures
cherry-red spot on macula
exaggerated startle response
loss of motor skills
progressive weakness
vision and hearing loss
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
|
gptkbp:enzymeDeficiency
|
gptkb:hexosaminidase_A
|
|
gptkbp:firstDescribed
|
1881
|
|
gptkbp:frequency
|
rare
|
|
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:otherName
|
gptkb:GM2_gangliosidosis,_type_I
|
|
gptkbp:prevalence
|
gptkb:Ashkenazi_Jewish_population
gptkb:Cajun_population
gptkb:French-Canadian_population
|
|
gptkbp:prevention
|
carrier screening
|
|
gptkbp:prognosis
|
fatal in early childhood (classic form)
|
|
gptkbp:symptom
|
gptkb:dementia
blindness
deafness
muscle weakness
spasticity
developmental regression
macrocephaly
|
|
gptkbp:treatment
|
supportive care
|
|
gptkbp:bfsParent
|
gptkb:Ashkenazi_Jews
|
|
gptkbp:bfsLayer
|
5
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Tay-Sachs disease
|