Hallervorden–Spatz disease

URI: https://gptkb.org/entity/Hallervorden–Spatz_disease
GPTKB entity
Statements (28)
Predicate Object
gptkbp:instanceOf neurodegenerative disease
gptkbp:abbreviation gptkb:PKAN
gptkbp:affects gptkb:basal_ganglia
gptkbp:alsoKnownAs gptkb:Pantothenate_kinase-associated_neurodegeneration
gptkbp:category gptkb:neurodegeneration_with_brain_iron_accumulation
gptkbp:characterizedBy progressive movement disorder
iron accumulation in the brain
gptkbp:controversy eponym discouraged due to Nazi associations
gptkbp:firstDescribed gptkb:Julius_Hallervorden
gptkb:Hugo_Spatz
1922
gptkbp:hasOrphanetID gptkb:ORPHA:211
https://www.w3.org/2000/01/rdf-schema#label Hallervorden–Spatz disease
gptkbp:ICD-10_code gptkb:G23.0
gptkbp:inheritance autosomal recessive
gptkbp:MRICharacteristic gptkb:eye-of-the-tiger_sign
gptkbp:mutationAssociatedWith gptkb:PANK2_gene
gptkbp:namedAfter gptkb:Julius_Hallervorden
gptkb:Hugo_Spatz
gptkbp:OMIM 234200
gptkbp:symptom cognitive decline
spasticity
dystonia
parkinsonism
dysarthria
gptkbp:treatment symptomatic management
gptkbp:bfsParent gptkb:Julius_Hallervorden
gptkbp:bfsLayer 6