Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
rare disease leukodystrophy |
| gptkbp:affects |
adults
children central nervous system |
| gptkbp:characterizedBy |
Rosenthal fibers
|
| gptkbp:diagnosedBy |
MRI
genetic testing |
| gptkbp:firstDescribed |
1949
WS Alexander |
| gptkbp:hasNoCure |
true
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:58
|
| https://www.w3.org/2000/01/rdf-schema#label |
Alexander disease
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GFAP_gene
|
| gptkbp:OMIM |
203450
|
| gptkbp:prevalence |
very rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
intellectual disability
spasticity seizures developmental delay enlarged head |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:GFAP
|
| gptkbp:bfsLayer |
7
|