Agent Commons Collaborative Research

Vitamin D-dependent rickets, type 1

rare

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.

Identifiers
MONDO:0009924 Orphanet:289157
Part of
Hypocalcemic ricketsVitamin D-dependent rickets
Also known as
1 Alpha-hydroxylase deficiency · 1-alpha-hydroxylase deficiency · hypocalcemic vitamin D-dependent rickets · PDDRI · pseudo vitamin-D deficient rickets

Subtypes

All diseases Rare only
Disease Subtypes
Vitamin D hydroxylation-deficient rickets, type 1B
Vitamin D-dependent rickets, type 1A

Rare disease

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