Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

NBIA

From SNPedia

NBIA, which stands for neurodegeneration with brain iron accumulation, is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities. Wikipedia

As delineated in OMIM, NBIA encompasses a group of rare and heterogeneous disorders, currently named (at least in OMIM) as follows with their associated casuative genes:

  • NBIA1, based on recessive mutations in the PANK2 gene
  • NBIA2A and NBIA2B, from recessive mutations in the PLA2G6 gene
  • NBIA3, from dominant mutations in the FTL gene
  • NBIA4, C19ORF12 gene (recessive)
  • NBIA5, WDR45 gene (X-linked dominant)
  • NBIA6, COASY gene (recessive)