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 |
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
|
| https://www.w3.org/2000/01/rdf-schema#label |
neurodegeneration with brain iron accumulation
|
| 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 |
cognitive decline
spasticity dystonia movement disorder parkinsonism |
| gptkbp:treatment |
deep brain stimulation
iron chelation therapy symptomatic therapy |
| gptkbp:bfsParent |
gptkb:Hallervorden–Spatz_disease
|
| gptkbp:bfsLayer |
7
|