Humerus fracture
diseaseOn this page
Also known as fracture, humeralfractures, humeralhumeral fracture
Summary
Humerus fracture (MONDO:0005319) is a disease with 5 GWAS associations across 7 studies and 55 clinical trials. Top therapeutic interventions include teriparatide. A subtype of bone fracture — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 5
- Clinical trials: 55
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | humerus fracture |
| Mondo ID | MONDO:0005319 |
| EFO | EFO:0003943 |
| MeSH | D006810 |
| SNOMED CT | 66308002 |
| Anatomy (UBERON) | UBERON:0000976 |
| Is cancer (heuristic) | no |
Also known as: fracture, humeral · fractures, humeral · humeral fracture
Data availability: 5 GWAS associations (7 studies).
Disease family
This is a subtype of bone fracture. 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: injury › bone fracture › humerus fracture
Related subtypes (6): spinal fracture, tibia fracture, ulna fracture, radius fracture, hip fracture, jaw fracture
Genetics & variants
GWAS landscape
5 GWAS associations across 7 studies. Top hits map to 4 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs549328076 | 1e-14 | RNU6-896P - HMGB3P19 | G | 2.2 |
| rs150708495 | 2e-14 | LINC01320 | C | 3.49 |
| rs569286968 | 3e-13 | PREX2 | C | 2.28 |
| rs538448636 | 7e-12 | CAMK2D | A | 1.98 |
| rs34802262 | 2e-08 | JAZF1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90479202 | Verma A | 2024 | 4,302 | 445,275 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436821 | Zhou W | 2018 | 1,692 | 387,765 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90044639 | Jiang L | 2021 | 1,662 | 454,686 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90651536 | Liu TY | 2025 | 1,209 | 210,203 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90479201 | Verma A | 2024 | 621 | 120,961 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480599 | Verma A | 2024 | 621 | 120,961 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482514 | Verma A | 2024 | 422 | 59,283 | 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 | 5 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 4 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 3 |
| intergenic_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs549328076 | 6 | 153928708 | G>A | 0.002 | intergenic_variant | RNU6-896P - HMGB3P19 | 1e-14 | Tier 4: intronic/intergenic |
| rs150708495 | 2 | 34559000 | C>T | 0 | intergenic_variant | LINC01320 | 2e-14 | Tier 4: intronic/intergenic |
| rs569286968 | 8 | 68001857 | C>T | 0 | intron_variant | PREX2 | 3e-13 | Tier 4: intronic/intergenic |
| rs538448636 | 4 | 113504938 | A>G | 0.001 | intron_variant | CAMK2D | 7e-12 | Tier 4: intronic/intergenic |
| rs34802262 | 7 | 27874966 | GA>G | 0.05 | intron_variant | JAZF1 | 2e-08 | 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): Lidocaine, Triamcinolone Acetonide.
Clinical trials & evidence
Clinical trials
Clinical trials: 55.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 48 |
| PHASE4 | 2 |
| PHASE3 | 2 |
| PHASE2 | 1 |
| EARLY_PHASE1 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03796572 | PHASE4 | RECRUITING | Regional Blocks for Lateral Condyle Fractures |
| NCT01105832 | PHASE4 | COMPLETED | Does Teriparatide (rhPTH 1-34) Promote Fracture Healing in Proximal Humeral Fractures? |
| NCT02091492 | PHASE3 | WITHDRAWN | Teriparatide for Fracture Repair in Humans |
| NCT02418260 | PHASE3 | UNKNOWN | Surgical Interventions for the Treatment of Humeral Shaft Fractures |
| NCT04216017 | PHASE2 | COMPLETED | Glenohumeral Cortisone Injection |
| NCT02733666 | PHASE1 | COMPLETED | Internal Fixation of Lateral Humeral Condyle Fractures With Absorbable Screws in Children |
| NCT02467803 | EARLY_PHASE1 | UNKNOWN | Shoulder Functional Outcomes of Patients With Proximal Humerus Fractures: Comparison of Two Different Treatment Protocol |
| NCT04640727 | Not specified | ENROLLING_BY_INVITATION | ORIF Versus CRIF of Completely Displaced and Rotated Lateral Condylar Fractures of the Humerus in Children |
| NCT05019664 | Not specified | ACTIVE_NOT_RECRUITING | Affixus Natural Nail System Humeral Nail PMCF |
| NCT05256849 | Not specified | ACTIVE_NOT_RECRUITING | Treatment of Humeral Fractures With Long PHILOS Plates Using a Modified Technique and Approach Avoids Radial Nerve Palsy |
| NCT05314387 | Not specified | NOT_YET_RECRUITING | S-11 SMR TT Hybrid Glenoid and Cementless Finned Short Stem |
| NCT05668182 | Not specified | RECRUITING | A Case Series: TRUMATCH Graft Cage for Segmental Long Bone Defects |
| NCT05868148 | Not specified | ACTIVE_NOT_RECRUITING | Shoulder iD™ Primary Reversed Glenoid Outcomes Clinical Study |
| NCT06113614 | Not specified | RECRUITING | Effects of Photobiomodulation on Functional Recovery of Proximal Humerus Fractures |
| NCT06869343 | Not specified | RECRUITING | Early Versus Delayed Rehabilitation After Reverse Total Shoulder Arthroplasty for Proximal Humerus Fracture |
| NCT07212036 | Not specified | RECRUITING | The Utilization of Ultrasound to Diagnose Pediatric Elbow Fractures |
| NCT07558941 | Not specified | NOT_YET_RECRUITING | Conservative Versus Surgical Treatment of Gartland Type II Supracondylar Humeral Fractures in Children - Which One ? |
| NCT07569575 | Not specified | NOT_YET_RECRUITING | Magnesium-Titanium Hybrid Intramedullary Nail System For Long Bone Fractures |
| NCT00240396 | Not specified | WITHDRAWN | Bimodal Analgesia as Form of Pain Control Post Long Bone Fracture |
| NCT00358787 | Not specified | COMPLETED | Management of Displaced Supracondylar Fractures of the Humerus Using Lateral vs. Crossed K-wires |
| NCT00698750 | Not specified | TERMINATED | A Clinical Investigation of the Copeland™ Humeral Resurfacing Head |
| NCT00698867 | Not specified | COMPLETED | A Clinical Investigation of the Discovery™ Elbow System |
| NCT00699270 | Not specified | WITHDRAWN | A Clinical Investigation of the Comprehensive®, BioModular®, and Bi-Angular® Shoulder Systems |
| NCT00720681 | Not specified | COMPLETED | Plating of Humeral Shaft Fractures in Multiple Trauma Patients. |
| NCT00772850 | Not specified | COMPLETED | Rotator Cuff Injury in Antegrade Locked Nailing for Humeral Fractures |
| NCT00793637 | Not specified | COMPLETED | Evaluation of Handling and Possible Complications Related to the Newly Developed Angular Stable Locking System (ASLS) |
| NCT00999193 | Not specified | TERMINATED | Proximal Humeral Comminuted Fractures in the Elderly - PERCELE Trial |
| NCT01017289 | Not specified | UNKNOWN | Intramedullary Fixation of Humerus Fractures |
| NCT01051869 | Not specified | COMPLETED | Simple Decompression Versus Anterior Transposition of the Ulnar Nerve |
| NCT01087463 | Not specified | UNKNOWN | Intramedullary Fixation of Humerus Fractures Without Intramedullary Reaming |
| NCT01524965 | Not specified | TERMINATED | The Effect of the Timing of Postoperative Mobilisation After Locking Plate Osteosynthesis of Fractures of the Surgical Neck of the Humerus |
| NCT01812863 | Not specified | WITHDRAWN | Pain Management in Children Undergoing Supracondylar Humerus Fracture Repair |
| NCT01847508 | Not specified | COMPLETED | PHILOS Augmented - a Multicenter Randomized Controlled Trial |
| NCT01877434 | Not specified | COMPLETED | Reversed TESS Shoulder Artroplasty |
| NCT01984112 | Not specified | COMPLETED | Proximal Humerus Fractures: Randomized Study Between Locking Nails and Locking Plates for Neer 2 and 3 Parts |
| NCT02170545 | Not specified | COMPLETED | CT Imaging Evaluation of Humerus Fractures |
| NCT02566018 | Not specified | COMPLETED | Treatment of Proximal Humerus Fractures in the Elderly |
| NCT02640027 | Not specified | COMPLETED | The Use of Telemedicine Tool in Supracondylar Humerus Fractures in Children |
| NCT02750839 | Not specified | UNKNOWN | Influence of Osteoporosis on Clinical Outcomes of Mini-invasive Surgical Treatment of Proximal Humerus Fractures |
| NCT02756156 | Not specified | UNKNOWN | Low Dose Interscalene and Infraclavicular Block for Humerus Surgery |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| TERIPARATIDE | 4 | 2 |
Related Atlas pages
- Drugs: Teriparatide