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Hypocalcemic vitamin D-dependent rickets

Disease definition

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

ORPHA:289157

  • Synonym(s):
    • 1-alpha-hydroxylase deficiency
    • PDDRI
    • Pseudovitamin D-deficient rickets
    • VDDI
    • VDDR-I
    • Vitamin D dependent rickets type I
    • Vitamin D-dependency type I
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E55.0
  • OMIM: 264700  600081
  • UMLS: C0268689
  • MeSH: -
  • GARD: -
  • MedDRA: -

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