PLB1, phospholipase B1, 151056

N. diseases: 219; N. variants: 10
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 		0.020 GeneticVariation 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 		0.020 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