Vitamin D-dependent rickets type II with alopecia: genes and variants
Vitamin D-dependent rickets type II with alopecia is linked to 1 analyzed protein (VDR). 15 DNA variants are known to cause it; 76 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Vitamin D-dependent rickets type II with alopecia
VDR: Vitamin D3 receptor
It converts active vitamin D binding into transcriptional programs that regulate calcium and phosphate balance, bone mineralization, and many tissue-specific functions. Biallelic loss-of-function variants cause hereditary vitamin-D-resistant rickets with hypocalcemia, secondary hyperparathyroidism, and impaired bone mineralization.
15 disease-causing and 76 uncertain variants in VDR are linked to Vitamin D-dependent rickets type II with alopecia.
Known disease-causing variants in Vitamin D-dependent rickets type II with alopecia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| VDR R391H | 391 | NR LBD | Disease-causing (★★) |
| VDR R274H | 274 | NR LBD | Disease-causing (★★) |
| VDR R343C | 343 | NR LBD | Disease-causing (★★) |
| VDR V346M | 346 | NR LBD | Disease-causing (★★) |
| VDR R391C | 391 | NR LBD | Disease-causing (★) |
| VDR W286R | 286 | NR LBD | Disease-causing (★) |
| VDR R391S | 391 | NR LBD | Disease-causing |
| VDR G33D | 33 | Nuclear receptor | Disease-causing |
| VDR G46D | 46 | Nuclear receptor | Disease-causing |
| VDR R274L | 274 | NR LBD | Disease-causing |
| VDR H305Q | 305 | NR LBD | Disease-causing |
| VDR R50Q | 50 | Nuclear receptor | Disease-causing |
| VDR R73Q | 73 | Nuclear receptor | Disease-causing |
| VDR E329K | 329 | NR LBD | Disease-causing |
| VDR H397P | 397 | NR LBD | Disease-causing |
Uncertain variants in Vitamin D-dependent rickets type II with alopecia that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| VDR R274C | 274 | NR LBD | Uncertain (★) | +7: 2 other pathogenic changes within 3 positions; R274L at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.963 |
Diseases related to Vitamin D-dependent rickets type II with alopecia
- Osteoporosis, also linked to VDR
- Postmenopausal osteoporosis, also linked to VDR
- Chronic kidney disease, also linked to VDR
Frequently asked questions
Which genes are linked to Vitamin D-dependent rickets type II with alopecia?
In CATVariant, Vitamin D-dependent rickets type II with alopecia is linked to 1 analyzed protein: VDR (Vitamin D3 receptor).
How many genetic variants are linked to Vitamin D-dependent rickets type II with alopecia?
91 variants: 15 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 76 are of uncertain significance or have conflicting reports.
Which uncertain variants in Vitamin D-dependent rickets type II with alopecia look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example VDR R274C. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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