Pantothenate kinase-associated neurodegeneration
GPTKB entity
Statements (32)
Predicate | Object |
---|---|
gptkbp:instanceOf |
neurodegenerative disease
genetic disorder 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
|
https://www.w3.org/2000/01/rdf-schema#label |
Pantothenate kinase-associated neurodegeneration
|
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 |
7
|