vitamin D-dependent rickets, type 1A
MONDO:0020723Mondo
Findings
No curated finding names vitamin D-dependent rickets, type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Bone painHPOHP:0002653
- 1 of 1 reported patient
- Decreased circulating calcitriol concentrationHPOHP:0012052
- 5 of 5 reported patients
- Delayed eruption of teethHPOHP:0000684
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 1 of 1 reported patient
- Generalized aminoaciduriaHPOHP:0002909
- 1 of 1 reported patient
- HypocalcemiaHPOHP:0002901
- 5 of 5 reported patients
- HypocalciuriaHPOHP:0003127
- 1 of 1 reported patient
- KetonuriaHPOHP:0002919
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 1 of 1 reported patient
- Metaphyseal cuppingHPOHP:0003021
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
Show the remaining 8
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Rachitic rosaryHPOHP:0000897
- 1 of 1 reported patient
- Recurrent fracturesHPOHP:0002757
- 1 of 1 reported patient
- Reduced subcutaneous adipose tissueHPOHP:0003758
- 1 of 1 reported patient
- Renal phosphate wastingHPOHP:0000117
- 1 of 1 reported patient
- RicketsHPOHP:0002748
- 5 of 5 reported patients
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.
- CYP27B1HGNC:2606
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: vitamin D-dependent rickets, type 1A
- Also called
- vitamin D-dependent rickets, type I