/vitamin D-dependent rickets, type 1

vitamin D-dependent rickets, type 1

Rare Disease

MONDO:0009924

Also Known As

1 Alpha-hydroxylase deficiency1-alpha-hydroxylase deficiencyPDDRIVDDIVDDR-IVDDR1hypocalcemic vitamin D-dependent ricketspseudo vitamin-D deficient ricketspseudovitamin D-deficient ricketsselective 1-alpha, 25-hydroxyvitamin D3 deficiencyvitamin D 1 Alpha-Hydroxylase deficiencyvitamin D dependent rickets type Ivitamin D-dependency type Ivitamin D-dependent rickets type 1vitamin D dependency, type 1

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.