GM1 gangliosidosis (human deficiency)
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
GLB1 gene mutation
|
| gptkbp:characterizedBy |
hepatosplenomegaly
cherry-red spot in retina developmental regression skeletal abnormalities progressive neurodegeneration |
| gptkbp:deficiencyCauses |
gptkb:beta-galactosidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1959
|
| gptkbp:hasOrphanetID |
ORPHA:370
|
| https://www.w3.org/2000/01/rdf-schema#label |
GM1 gangliosidosis (human deficiency)
|
| gptkbp:ICD-10_code |
E75.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
230500
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:subspecies |
adult GM1 gangliosidosis
infantile GM1 gangliosidosis juvenile GM1 gangliosidosis |
| gptkbp:symptom |
hypotonia
seizures coarse facial features corneal clouding |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:beta-galactosidase
|
| gptkbp:bfsLayer |
7
|