Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:basal_ganglia
|
| gptkbp:alsoKnownAs |
Hallervorden-Spatz disease
|
| gptkbp:category |
gptkb:neurodegeneration_with_brain_iron_accumulation
|
| gptkbp:complication |
progressive disability
|
| gptkbp:diagnosedBy |
MRI
genetic testing |
| gptkbp:firstDescribed |
1922
|
| gptkbp:fullName |
gptkb:Pantothenate_kinase-associated_neurodegeneration
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:211
|
| https://www.w3.org/2000/01/rdf-schema#label |
PKAN
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MRI_finding |
gptkb:eye-of-the-tiger_sign
|
| gptkbp:mutationAssociatedWith |
gptkb:PANK2_gene
|
| gptkbp:namedAfter |
gptkb:Julius_Hallervorden
gptkb:Hugo_Spatz |
| gptkbp:OMIM |
234200
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
neurodegeneration
iron metabolism disorder |
| gptkbp:symptom |
cognitive decline
spasticity dystonia parkinsonism dysarthria retinal degeneration |
| gptkbp:treatment |
symptomatic
|
| gptkbp:bfsParent |
gptkb:Hallervorden–Spatz_disease
|
| gptkbp:bfsLayer |
7
|