Preferred Label : Vitamin D 1 Alpha-Hydroxylase Deficiency;
NCIt related terms : Pseudo Vitamin-D Deficient Rickets; Vitamin D-dependent Rickets Type 1; Vitamin D Hydroxylation-deficient Rickets type 1a; VDDR1; Selective 1-alpha, 25-hydroxyvitamin D3 deficiency; 1 Alpha-hydroxylase Deficiency;
NCIt definition : An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP27B1
gene, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, the renal enzyme that converts
25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D (calcitriol), the active metabolite
of vitamin D (cholecalciferol). The condition is characterized by reduced serum concentrations
of 1 alpha,25-hydroxyvitamin D, normal concentrations of 25-hydroxyvitamin D, increased
serum alkaline phosphatase, hypocalcemia due to reduced intestinal calcium absorption,
hypophosphatemia due to renal phosphate wasting, secondary hyperparathyroidism, rickets,
seizures, muscle weakness and failure to thrive.;
Alternative definition : NICHD: An autosomal recessive form of rickets caused by inactivating mutation(s) in
the CYP27B1 gene, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, the renal enzyme
that converts 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D (calcitriol), the
active metabolite of vitamin D (cholecalciferol). The condition is characterized by
reduced serum concentrations of 1 alpha,25-hydroxyvitamin D, normal concentrations
of 25-hydroxyvitamin D, increased serum alkaline phosphatase, hypocalcemia due to
reduced intestinal calcium absorption, hypophosphatemia due to renal phosphate wasting,
secondary hyperparathyroidism, rickets, seizures, muscle weakness, and failure to
thrive.;
Origin ID : C131073;
UMLS CUI : C0268689;
Currated CISMeF NLP mapping
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_associated_gene
- disease_has_normal_tissue_origin
- disease_has_primary_anatomic_site
- disease_mapped_to_gene
- related_to_genetic_biomarker
