FA2H, fatty acid 2-hydroxylase, 79152

N. diseases: 131; N. variants: 14
Disease: Infantile Neuroaxonal Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		0.020 GeneticVariation disease BEFREE Rare recessive causes include PLA2G6 mutations (infantile neuroaxonal dystrophy), and mutations of ATP13A2 (Kufor Rakeb syndrome) and FA2H. 22515743 2012
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		0.020 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