PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 GeneticVariation disease BEFREE Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants. 31493991 2020
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 Biomarker disease BEFREE Mutations in PLA2G6 are known to cause Neurodegeneration with brain iron accumulation 2 (NBIA2): Our patients have some similarities with NBIA2; both are characterized by rapidly progressive psychomotor regression and cerebellar atrophy. 31689548 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 GeneticVariation disease BEFREE MRI assessment showed absence of bilateral "swallow tail sign" and cerebellar atrophy in this patient, while no obvious difference in brain iron accumulation between PLA2G6 mutant PD patient and healthy controls. 31496990 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 Biomarker disease BEFREE Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy. 28091863 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 GeneticVariation disease BEFREE Molecular testing for PLA2G6 mutations is, therefore, indicated in childhood-onset ataxia syndromes, if neuroimaging shows cerebellar atrophy with or without evidence of iron accumulation. 24130795 2013
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 Biomarker disease BEFREE We suggest that PLA2G6 should be screened in any patient exhibiting progressive gait disturbance, bradykinesia, dysarthria, tremors, mood/behavior changes or cognitive decline, especially when associated with cerebellar atrophy and/or iron accumulation and/or cerebral atrophy. 22934738 2013
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 GeneticVariation disease BEFREE Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. 17254819 2007
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.170 Biomarker disease HPO