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GENATLAS PHENOTYPE
last update : 21-11-2019
Symbol ALDOA
Location 16p11.2
Name hemolytic anemia with aldolase deficiency
Corresponding gene ALDOA
Main clinical features . muscle weakness and premature muscle fatiguewith several unexplained episodes of jaundice and anemia
  • diminished muscle mass, reduced muscle tone, and proximal muscle weakness; liver and spleen were somewhat enlarged; creatine kinase was markedly elevated in the blood and several muscle enzymes, as well as serum bilirubin
    • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name fructose-bisphosphate, aldolase A (ALDOA)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function Gli346 Ser, Glu206 Lys
    Remark(s)