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: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 GeneticVariation disease BEFREE Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site. 24252552 2013
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 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
0.260 GeneticVariation disease BEFREE In contrast to neuroaxonal dystrophies due to mutation of the phospholipase A2, group VI (PLA2G6) gene, in which Lewy body pathology is widespread, no α-synuclein accumulation was detected in any of our PKAN cases. 22416811 2013
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 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
0.260 Biomarker disease MGD Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. 22442204 2012
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 Biomarker disease BEFREE Mutations in pantothenate kinase 2 (PANK2) and phospholipase A2 (PLA2G6) cause recessive, childhood-onset extrapyramidal disorders termed pantothenate kinase-associated neurodegeneration (PKAN) and infantile neuroaxonal dystrophy (INAD), respectively. 21496576 2011
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 Biomarker disease MGD Neuroaxonal dystrophy in calcium-independent phospholipase A2β deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. 21813701 2011
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 GeneticVariation disease BEFREE A number of autosomal recessive NBIA syndromes can present in childhood, most commonly pantothenate kinase-associated neurodegeneration (PKAN; due to mutations in the PANK2 gene) and phospholipase A2 group 6-associated neurodegeneration (PLAN; associated with genetic defects in PLA2G6). 21480873 2011
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 Biomarker disease MGD Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. 19893029 2009
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 Biomarker disease MGD Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. 18305254 2008
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 Biomarker disease MGD Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. 18202189 2008
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome
0.260 Biomarker disease MGD Male mice that do not express group VIA phospholipase A2 produce spermatozoa with impaired motility and have greatly reduced fertility. 15252026 2004