Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 07-09-2020
Symbol PGK1D
Location Xq13.3
Name phosphoglycerate kinase 1 deficiency
Corresponding gene PGK1
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)