neurodegeneration with brain iron accumulation

URI: https://gptkb.org/entity/neurodegeneration_with_brain_iron_accumulation
GPTKB entity
Statements (47)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:abbreviation NBIA
gptkbp:affectsOrgan brain
gptkbp:associatedWith gptkb:CP
gptkb:AP4B1
FTL
C19orf12
AP4E1
AP4M1
AP4S1
ATP13A2
COASY
DCAF17
FA2H
PANK2
PLA2G6
WDR45
gptkbp:causedBy gptkb:genetic_disorder
gptkbp:characterizedBy iron accumulation in basal ganglia
gptkbp:diagnosedBy MRI
gptkbp:firstDescribed 1922
gptkbp:frequency rare
gptkbp:hasOrphanetID ORPHA:712
gptkbp:hasRelatedDisorder Hallervorden-Spatz disease
gptkbp:inheritance autosomal dominant
autosomal recessive
gptkbp:MeSH_ID D020754
gptkbp:mortalityRate high
gptkbp:OMIM 256600
gptkbp:onset childhood
adulthood
gptkbp:prognosis progressive
gptkbp:subspecies gptkb:PKAN
PLAN
BPAN
MPAN
gptkbp:symptom gptkb:movement_disorder
cognitive decline
spasticity
dystonia
parkinsonism
gptkbp:treatment deep brain stimulation
iron chelation therapy
symptomatic therapy
gptkbp:bfsParent gptkb:Hallervorden–Spatz_disease
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label neurodegeneration with brain iron accumulation