vitamin D-dependent rickets, type 3
MONDO:0033640Mondo
Findings
No curated finding names vitamin D-dependent rickets, type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
13 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
- 2 of 2 reported patients
- Decreased circulating calcitriol concentrationHPOHP:0012052
- 2 of 2 reported patients
- Flared metaphysisHPOHP:0003015
- 2 of 2 reported patients
- Metaphyseal cuppingHPOHP:0003021
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients
- Bowing of the legsHPOHP:0002979
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- Genu varumHPOHP:0002970
- Growth delayHPOHP:0001510
- HypocalcemiaHPOHP:0002901
- HypophosphatemiaHPOHP:0002148
Show the remaining 1
- OsteopeniaHPOHP:0000938
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.
- CYP3A4HGNC:2637
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
1 name
Resolves to: vitamin D-dependent rickets, type 3
- Also called
- VDDR3