Renal osteodystrophy
diseaseOn this page
Also known as Osteodystrophies, renalosteodystrophy, renalrenal Osteodystrophiesrenal ricketsrickets, renal
Summary
Renal osteodystrophy (MONDO:0006946) is a disease with 2 GWAS associations across 4 studies and 19 clinical trials. Top therapeutic interventions include zoledronic acid anhydrous, calcitriol, and calcium carbonate. A subtype of secondary hyperparathyroidism of renal origin — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 2
- Clinical trials: 19
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | renal osteodystrophy |
| Mondo ID | MONDO:0006946 |
| EFO | EFO:1001152 |
| MeSH | D012080 |
| DOID | DOID:13068 |
| ICD-10-CM | N25.0 |
| SNOMED CT | 16726004 |
| UMLS | C0035086 |
| MedGen | 20524 |
| GARD | 0007551 |
| MedDRA | 10038489 |
| Is cancer (heuristic) | no |
Also known as: Osteodystrophies, renal · osteodystrophy, renal · renal Osteodystrophies · renal rickets · rickets, renal
Data availability: 2 GWAS associations (4 studies).
Disease family
This is a subtype of secondary hyperparathyroidism of renal origin. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › impaired renal function disease › secondary hyperparathyroidism of renal origin › renal osteodystrophy
Genetics & variants
GWAS landscape
2 GWAS associations across 4 studies. Top hits map to 0 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs186585794 | 4e-12 | LINC02699 - ANO3 | G | 2.3 |
| rs537744933 | 2e-11 | FOXI2 - BUB1P1 | T | 2.64 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478541 | Verma A | 2024 | 1,646 | 448,422 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478540 | Verma A | 2024 | 957 | 120,299 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480385 | Verma A | 2024 | 957 | 120,299 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482212 | Verma A | 2024 | 268 | 59,475 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 2 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intergenic_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs186585794 | 11 | 26009470 | G>C | 0.001 | intergenic_variant | LINC02699 - ANO3 | 4e-12 | Tier 4: intronic/intergenic |
| rs537744933 | 10 | 127759078 | T>C | 0 | intergenic_variant | FOXI2 - BUB1P1 | 2e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Calcitriol, Calcium Carbonate, Cinacalcet, Sevelamer Hydrochloride.
Clinical trials & evidence
Clinical trials
Clinical trials: 19.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 10 |
| PHASE2 | 6 |
| PHASE4 | 2 |
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00108394 | PHASE4 | COMPLETED | Osteopenia and Renal Osteodystrophy: Evaluation and Management |
| NCT01675089 | PHASE4 | COMPLETED | Zoledronic Acid to Prevent Bone Loss After Kidney Transplantation |
| NCT00752401 | PHASE3 | UNKNOWN | Vitamin D3 Substitution in Vitamin D Deficient Kidney Transplant Recipients |
| NCT00004340 | PHASE2 | COMPLETED | Phase II Randomized Study of the Effects of Growth Hormone on Children and Adolescents on Maintenance Dialysis |
| NCT00527085 | PHASE2 | COMPLETED | 12-month Study of AMG 073 in Renal Osteodystrophy |
| NCT00560300 | PHASE2 | COMPLETED | Regulation of Bone Formation in Renal Osteodystrophy |
| NCT01665651 | PHASE2 | WITHDRAWN | Kidney Yin/Yang Replenishment on Patients With Renal Osteodystrophy |
| NCT03960437 | PHASE2 | COMPLETED | The Effect of Etelcalcetide on CKD-MBD |
| NCT03960554 | PHASE2 | TERMINATED | The Effects of 12-months of Denosumab on Bone Density in Prevalent Kidney Transplant Recipients |
| NCT03716128 | Not specified | RECRUITING | Diagnosis of Renal Osteodystrophy in Patients With Reduced Renal Function |
| NCT05880914 | Not specified | RECRUITING | Precision Medicine Approaches to Renal Osteodystrophy |
| NCT00285467 | Not specified | COMPLETED | Cholecalciferol Versus Doxercalciferol in the Treatment of Secondary Hyperparathyroidism in Chronic Kidney Disease |
| NCT00364234 | Not specified | COMPLETED | Low Magnitude Mechanical Stimuli Effects on Bone Structure in ESRD |
| NCT00374712 | Not specified | TERMINATED | Klotho Gene Polymorphism in Dialyzed Patients With Hyperphosphatemia |
| NCT00859612 | Not specified | COMPLETED | Renal Osteodystrophy: A Fresh Approach |
| NCT01382966 | Not specified | UNKNOWN | Serum Sclerostin Levels, Cardiovascular Parameters and Carpal Tunnel Syndrome in Maintenance Hemodialysis Patients |
| NCT02147782 | Not specified | UNKNOWN | Clinical Observation on Bone Metabolism Induced by Chronic Renal Insufficiency |
| NCT02556216 | Not specified | UNKNOWN | Systematic Study of Parameters of Chronic Kidney Disease Mineral and Bone Disorder (CKD-MBD) |
| NCT03626246 | Not specified | COMPLETED | Pathogenesis of Compromised Bone Quality and Mechanics in Chronic Kidney Disease |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ZOLEDRONIC ACID ANHYDROUS | 4 | 3 |
| CALCITRIOL | 4 | 1 |
| CALCIUM CARBONATE | 4 | 1 |
| DOXERCALCIFEROL | 4 | 1 |
| ETELCALCETIDE | 4 | 1 |
| PAMIDRONIC ACID | 4 | 1 |
| SEVELAMER HYDROCHLORIDE | 4 | 1 |