Tay–Sachs disease

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf neurodegenerative disease
genetic disorder
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
https://www.w3.org/2000/01/rdf-schema#label Tay–Sachs disease
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 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 6