Pantothenate kinase-associated neurodegeneration
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:neurodegenerative_disease gptkb:rare_disease |
| gptkbp:affects |
gptkb:basal_ganglia
|
| gptkbp:alsoKnownAs |
gptkb:PKAN
Hallervorden-Spatz disease |
| gptkbp:category |
gptkb:neurodegeneration_with_brain_iron_accumulation
|
| gptkbp:characteristicFinding |
eye-of-the-tiger sign on MRI
|
| gptkbp:diagnosedBy |
genetic testing
MRI brain scan |
| gptkbp:firstDescribed |
gptkb:Julius_Hallervorden
gptkb:Hugo_Spatz 1922 |
| gptkbp:frequency |
rare
|
| gptkbp:ICD-10_code |
gptkb:G23.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D020754
|
| gptkbp:mutationAssociatedWith |
gptkb:PANK2_gene
|
| gptkbp:OMIM |
234200
|
| gptkbp:onset |
childhood
early adulthood |
| gptkbp:symptom |
cognitive decline
spasticity dystonia parkinsonism dysarthria retinal degeneration |
| gptkbp:treatment |
symptomatic management
no cure |
| gptkbp:bfsParent |
gptkb:Hallervorden–Spatz_disease
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Pantothenate kinase-associated neurodegeneration
|