PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Abetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 GeneticVariation disease BEFREE It has not been investigated yet whether acanthocytosis in PKAN is associated with a specific subset of Pank2 mutations. 25915509 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 Biomarker disease BEFREE Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. 22027213 2011
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 Biomarker disease BEFREE Acanthocytosis is also found in a smaller percentage of cases with pantothenate kinase-associated neurodegeneration (PKAN) and Huntington's disease-like 2 (HDL2). 16003113 2005
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 Biomarker disease HPO