vitamin D-dependent rickets, type 2A
Findings
No curated finding names vitamin D-dependent rickets, type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.
Definition from the Mondo Disease Ontology (MONDO:0010186), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
6 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.
- Alopecia universalisHPOHP:0002289
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- RicketsHPOHP:0002748
- 1 of 1 reported patient
- Wide nasal bridgeHPOHP:0000431
- 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.
- VDRHGNC:12679
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: vitamin D-dependent rickets, type 2A
- Also called
- hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopeciarickets, vitamin D-resistant, type IIAVDR vitamin D-dependent rickets, type 2vitamin D dependent rickets 2avitamin D receptor deficiency ricketsvitamin d-dependent rickets type II with alopeciavitamin D-dependent rickets, type 2 caused by mutation in VDR