OnlineIMD
Pantothenate kinase 2 deficiency
Synonym(s)
Pantothenate kinase-associated neurodegeneration (PKAN)
,
neurodegeneration with brain iron accumulation type 1
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
PANK2
/ Pantothenate Kinase 2
20p13
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Pantothenate kinase 2
Disease group(s)
21.5 Disorders of pantothenate and CoA metabolism
Child entries
Pantothenate kinase 2 deficiency, classical form
Pantothenate kinase 2 deficiency atypical form