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