OnlineIMD

Ectonucleotide pyrophosphatase/ phosphodiesterase 1 deficiency

  • Synonym(s)
    • Generalized arterial calcification of infancy type 1
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • ENPP1 / Ectonucleotide Pyrophosphatase/Phosphodiesterase 1
      • 6q23.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Ectonucleotide pyrophosphatase/phosphodiesterase 1
  • Disease group(s)
    • 16.3    Disorders of ectonucleotide and nucleic acid metabolism
  • Child entries
    • Hypopigmentation-punctate palmoplantar keratoderma syndrome
    • Autosomal recessive hypophosphatemic rickets type 2
    • Cole disease