Vitamin D-dependent rickets, 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.

Also known as 1 Alpha-hydroxylase deficiency, 1-alpha-hydroxylase deficiency, hypocalcemic vitamin D-dependent rickets, PDDRI, pseudo vitamin-D deficient rickets, pseudovitamin D-deficient rickets, selective 1-alpha, 25-hydroxyvitamin D3 deficiency, VDDI, VDDR-I, VDDR1, vitamin D 1 Alpha-Hydroxylase deficiency, vitamin D dependent rickets type I, vitamin D-dependency type I, vitamin D-dependent rickets type 1 — per MONDO

Also identified as

• MESH C562688 per MONDO
• NCIT C131073 per MONDO
• Orphanet 289157 per MONDO
• SCTID 67049004 per MONDO
• UMLS C0268689 per MONDO

Affected Organs