Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
deficiency of beta-hexosaminidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1930s
|
| https://www.w3.org/2000/01/rdf-schema#label |
GM2 gangliosidosis
|
| gptkbp:ICD-10_code |
E75.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:involvedIn |
gptkb:HEXA
GM2A HEXB |
| gptkbp:MeSH_ID |
D005869
|
| gptkbp:namedAfter |
gptkb:GM2_ganglioside
|
| gptkbp:OMIM |
272800
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:subspecies |
gptkb:Sandhoff_disease
gptkb:Tay-Sachs_disease GM2 activator deficiency |
| gptkbp:symptom |
muscle weakness
neurodegeneration seizures cherry-red spot in retina developmental delay |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Tay–Sachs_disease
gptkb:Sio_Gene_Therapies |
| gptkbp:bfsLayer |
7
|