vitamin D hydroxylation-deficient rickets, type 1B
Findings
No curated finding names vitamin D hydroxylation-deficient rickets, type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.
Definition from the Mondo Disease Ontology (MONDO:0010810), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating calcifediol concentrationHPOHP:0012053
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- HypocalcemiaHPOHP:0002901
- 1 of 1 reported patient
- HypophosphatemiaHPOHP:0002148
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP2R1HGNC:20580
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
6 names
Resolves to: vitamin D hydroxylation-deficient rickets, type 1B
- Also called
- CYP2R1 vitamin D-dependent rickets, type 1rickets due to defect in vitamin D 25-hydroxylation deficiencyVitam D hydroxylation-deficient rickets type 1bvitamin D 25-Hydroxylase deficiencyvitamin D hydroxylation-deficient rickets type 1bvitamin D-dependent rickets, type 1 caused by mutation in CYP2R1