pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.
MONDO:0016987
neuroacanthocytosis
excluded_subClassOf
MONDO:0018307
neurodegeneration with brain iron accumulation
is_a
Hallervorden-Spatz disease
exact
Hallervorden-Spatz syndrome
exact
NBIA1
exact
PKAN
exact
brain iron accumulation type I syndrome
broad
neuroaxonal dystrophy, late infantile
related
neurodegeneration with brain iron accumulation 1
exact
neurodegeneration with brain iron accumulation type 1
exact
pantothenate kinase-associated neurodegeneration
exact
pigmentary pallidal degeneration
exact