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GENATLAS PHENOTYPE
last update : 29-01-2010
Symbol PGK1
Location Xq13.3
Name phosphoglycerate kinase 1 deficiency
Corresponding gene PGK1
related resource Retinal Information Network
Main clinical features
  • hemolytic anemia including hemolysis with myoglobinuria
  • severe chronic and acute haemolytic anaemia and mental disorders, and early death (at a pre-adult age)
  • Genetic determination sex linked
    Function/system disorder hematology
    Type disease
    Gene product
    Name phosphoglycerate kinase 1 (PGK1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function (1060G-->C), mutation resulting in the Ala-353Pro amino acid substitution, which has been designated PGK Kyoto
    Remark(s) mutation leading to inhibition of the transcription mechanism (Svaasand 2007)