OnlineIMD

16.3    Disorders of ectonucleotide and nucleic acid metabolism

  • Type
    Group
  • Disease group(s)
    • 16    Disorders of nucleobase, nucleotide and nucleic acid metabolism
  • Child entries
    • Aicardi-Goutières syndrome
    • Ribonuclease H2 deficiency
    • 3' repair exonuclease 1 deficiency
    • Ribonuclease T2 deficiency
    • RNA-specific adenosine deaminase 1 deficiency
    • RNA-specific adenosine deaminase 2 deficiency
    • MDA5 superactivity
    • LSM11 deficiency
    • RNU7-1 deficiency
    • STING superactivity
    • 2',5'-oligoadenylate synthetase 1 deficiency
    • Activation-induced cytidine deaminase deficiency
    • Uracil-DNA glycosylase deficiency
    • ABCC6 deficiency
    • Ectonucleotide pyrophosphatase/ phosphodiesterase 1 deficiency
    • Ectonucleoside triphosphate diphosphohydrolase 1 deficiency
    • Ecto-5'-nucleotidase deficiency
    • Equilibrative nucleoside transporter 1 deficiency
    • Equilibrative nucleoside transporter 3 deficiency