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 CausalMutation disease CLINVAR "Missense PANK2 mutation without ""eye of the tiger"" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN)." 22127788 2012
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE <b>Purpose of the study</b>: Pantothenate Kinase-associated Neurodegeneration (PKAN) is a form of Neurodegeneration with brain iron accumulation (NBIA) due to gene mutations. 31738088 2019
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 GeneticVariation disease BEFREE Pantothenate-Kinase-Associated-Neurodegeneration (PKAN) is a devastating disease, resulting from mutations in pantothenate kinase 2 (PANK2), one of the four human pantothenate kinase genes (PANK1-4). 19602483 2009
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2) are the core syndromes, but several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). 23212724 2013
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE PKAN and PLAN are autosomal recessive NBIA disorders due to mutations in PANK2 and PLA2G6, respectively. 24209433 2013
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron accumulation in the brain, because of mutations in the PANK2 gene. 24712887 2015
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive movement disorder that is due to mutations in PANK2. 26547561 2015
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Pantothenate kinase associated neurodegeneration is a hereditary disease that arises from mutations that inactivate the human PANK2 gene. 26549575 2015
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). 28456385 2017
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 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 GeneticVariation disease BEFREE PANK2 gene homozygous mutation confirmed the diagnosis of PKAN. 21999968 2012
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is a hereditary progressive disorder and the most frequent form of neurodegeneration with brain iron accumulation (NBIA). 22515741 2012
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase 2, the isoform localized in neuronal cell mitochondria, is dysfunctional in patients with pantothenate kinase-associated neurodegeneration. 29522513 2018
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a genetic and early-onset neurodegenerative disorder characterized by iron accumulation in the basal ganglia. 30141000 2019
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway. 30740736 2019
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder characterised by progressive generalised dystonia and brain iron accumulation. 31202468 2019
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA). 31300018 2019
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation. 31660701 2019
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. 16240131 2005
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.800 GeneticVariation disease BEFREE A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. 16240131 2005