Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:accumulationOf |
gptkb:GM2_ganglioside
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:Tay–Sachs_disease
|
| gptkbp:deficiencyCauses |
gptkb:hexosaminidase_A
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:hasOrphanetID |
gptkb:ORPHA:353
|
| https://www.w3.org/2000/01/rdf-schema#label |
GM2 gangliosidosis, type I
|
| 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 |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
fatal in early childhood
|
| gptkbp:symptom |
muscle weakness
vision loss seizures cherry-red spot on macula progressive neurodegeneration |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Tay-Sachs_disease
|
| gptkbp:bfsLayer |
5
|