ENPP1

Clinical Characteristics

Mutations in ENPP1 may cause the following clinical manifestations:

  • Calcification of large- to medium-sized arteries.
  • Arterial narrowing even in the absence of calcifications.
  • Periarticular calcification.
  • Hypophosphatemic rickets.
  • Hearing loss.
  • Retinal PXE-like changes.
  • Skin PXE-like changes.