Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:lysosomal_storage_disease |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
GLB1 gene mutation
|
| gptkbp:characterizedBy |
accumulation of GM1 ganglioside
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1959
|
| gptkbp:ICD-10_code |
E75.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D005857
|
| gptkbp:OMIM |
230500
|
| gptkbp:onset |
adult
juvenile infantile |
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
Type 1 (infantile)
Type 2 (late infantile/juvenile) Type 3 (adult/chronic) |
| gptkbp:symptom |
muscle weakness
seizures hepatosplenomegaly cherry-red spot in retina developmental regression skeletal abnormalities |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:GM1_ganglioside
gptkb:Passage_Bio gptkb:Sio_Gene_Therapies |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
GM1 gangliosidosis
|