PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Hallervorden-Spatz Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease UNIPROT A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 CausalMutation disease CLINVAR A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE This finding establishes that HARP is part of the PKAN disease spectrum. 12058097 2002
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 CausalMutation disease CLINVAR HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. 12058097 2002
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE All patients with classic Hallervorden-Spatz syndrome and one third of those with atypical disease had PANK2 mutations. 12510040 2003
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 CausalMutation disease CLINVAR All patients with classic Hallervorden-Spatz syndrome and one third of those with atypical disease had PANK2 mutations. 12510040 2003
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease UNIPROT All patients with classic Hallervorden-Spatz syndrome and one third of those with atypical disease had PANK2 mutations. 12510040 2003
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease CTD_human Familial pediatric rapidly progressive extrapyramidal syndrome: is it Hallervorden-Spatz disease? 14580665 2003
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the pantothenate kinase 2 gene (PANK2) lead to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 15105273 2004
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE This detailed description of the clinical features of a Japanese patient with PKAN arising from homozygous N245S mutations in PANK2 would be useful for elucidating the pathogenesis of PKAN. 15465096 2004
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE The influence of iron deposits on T2 values and the content of metabolites in the brain of three patients with DNA proved pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome) was studied. 15565311 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase-associated neurodegeneration (PKAN). 16416393 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 CausalMutation disease CLINVAR Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). 16023068 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 CausalMutation disease CLINVAR We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. 15834858 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE This PANK2-caused subgroup of HSS is sometimes referred as PKAN (pantothenate-kinase-associated neurodegeneration). 16435199 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 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: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. 15852393 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome) is a rare but devastating neurodegenerative disorder, resulting from an inherited defect in coenzyme A biosynthesis. 15525657 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. 15911822 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) may serve as a model for Parkinson disease (PD) since many PKAN patients suffer from parkinsonism and both conditions lead to iron accumulation in the basal ganglia. 15843062 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the pantothenate kinase 2 (PANK2) gene have been identified in patients with neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden-Spatz disease). 15659606 2005