GM1 gangliosidosis (in humans)
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:accumulationOf |
gptkb:GM1_ganglioside
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutations in GLB1 gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:enzymeDeficiency |
gptkb:beta-galactosidase
|
| gptkbp:firstDescribed |
1959
|
| https://www.w3.org/2000/01/rdf-schema#label |
GM1 gangliosidosis (in humans)
|
| gptkbp:ICD-10_code |
E75.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
230500
|
| gptkbp:onset |
adult
juvenile infantile |
| gptkbp:otherName |
beta-galactosidase deficiency
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:relatedTo |
gptkb:Sandhoff_disease
gptkb:Tay-Sachs_disease |
| gptkbp:symptom |
hypotonia
hepatosplenomegaly cherry-red spot in retina developmental regression skeletal abnormalities |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Beta-galactosidase
|
| gptkbp:bfsLayer |
7
|