PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Ceruloplasmin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.020 Biomarker disease BEFREE Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. 29253590 2018
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		0.020 Biomarker disease BEFREE The known causes of NBIA include pantothenate kinase-associated neurodegeneration (PKAN), neuroferritinopathy, infantile neuroaxonal dystrophy (INAD), and aceruloplasminemia. 18443312 2008