vitamin D-dependent rickets, type 1
Findings
No curated finding names vitamin D-dependent rickets, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009924), read 2026-09-29. CC BY 4.0.
Features
46 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 calcitriol concentrationHPOHP:0012052
- Obligate (100% of cases)
- HypocalcemiaHPOHP:0002901
- Obligate (100% of cases)
- RicketsHPOHP:0002748
- Obligate (100% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Deformed rib cageHPOHP:0000886
- Very frequent (80% to 99% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
- Very frequent (80% to 99% of cases)
- Elevated alkaline phosphatase of bone originHPOHP:0010639
- Very frequent (80% to 99% of cases)
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- Very frequent (80% to 99% of cases)
- Enlargement of the anklesHPOHP:0003029
- Very frequent (80% to 99% of cases)
- Enlargement of the costochondral junctionHPOHP:0000920
- Very frequent (80% to 99% of cases)
- Enlargement of the wristsHPOHP:0003020
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
Show the remaining 34
- Femoral bowingHPOHP:0002980
- Very frequent (80% to 99% of cases)
- Flat occiputHPOHP:0005469
- Very frequent (80% to 99% of cases)
- Generalized aminoaciduriaHPOHP:0002909
- Very frequent (80% to 99% of cases)
- Genu varumHPOHP:0002970
- Very frequent (80% to 99% of cases)
- HypophosphatemiaHPOHP:0002148
- Very frequent (80% to 99% of cases)
- Increased susceptibility to fracturesHPOHP:0002659
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
Where it sits
Other names
14 names
Resolves to: vitamin D-dependent rickets, type 1
- Also called
- 1 Alpha-hydroxylase deficiency1-alpha-hydroxylase deficiencyhypocalcemic vitamin D-dependent ricketsPDDRIpseudo vitamin-D deficient ricketspseudovitamin D-deficient ricketsselective 1-alpha, 25-hydroxyvitamin D3 deficiencyVDDIVDDR-IVDDR1vitamin D 1 Alpha-Hydroxylase deficiencyvitamin D dependent rickets type Ivitamin D-dependency type Ivitamin D-dependent rickets type 1