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GENATLAS PHENOTYPE
last update : 30/09/2008
Symbol TPI1D
Location 12p13
Name triosephosphate isomerase 1 deficiency
Other name(s) glycolytic enzymopathy
Corresponding gene TPI1
Main clinical features
  • haemolytic anaemia coupled with progressive, severe neurological disorder
  • distinct phenotypes may be observed in patients with the same mutations
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    hematology
    Type disease
    Gene product
    Name triosephosphate isomerase 1(TPI1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     most frequent mutation is a Glu104Asp in homozygotes or compound heterozygotes
    Remark(s) mutation-induced protein misfolding is a possible mechanism