Spinal stenosis
diseaseOn this page
Also known as cervical spinal stenosislumbar spinal stenosisspinal stenosis of lumbar region
Summary
Spinal stenosis (MONDO:0005965) is a disease with 41 GWAS associations across 27 studies and 370 clinical trials. Top therapeutic interventions include dexmedetomidine, dexamethasone sodium phosphate, and pregabalin. A subtype of vertebral column disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 41
- Clinical trials: 370
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | spinal stenosis |
| Mondo ID | MONDO:0005965 |
| EFO | EFO:0007490 |
| MeSH | D013130 |
| DOID | DOID:6725 |
| ICD-10-CM | M48.0 |
| ICD-11 | 1847895828 |
| NCIT | C177444 |
| SNOMED CT | 76107001 |
| UMLS | C1861329 |
| MedGen | 396107 |
| Anatomy (UBERON) | UBERON:0006692 |
| Is cancer (heuristic) | no |
Also known as: cervical spinal stenosis · lumbar spinal stenosis · spinal stenosis of lumbar region
Data availability: 41 GWAS associations (27 studies) · 1 HPO phenotype · 4 cell lines.
Disease family
This is a subtype of vertebral column disorder. 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 › musculoskeletal system disorder › skeletal system disorder › vertebral column disorder › spinal stenosis
Related subtypes (14): spondylocostal dysostosis, sacrum chordoma, epidural spinal canal neoplasm, Baastrup syndrome, lumbosacral lipoma, intervertebral disk degenerative disorder, coccygodynia, vertebral joint disorder, sacrococcygeal teratoma, spinal cord injury, tuberculosis, spinal, vertebral disorder, lumbar disk disease, dropped head syndrome
Subtypes (1): lumbar spinal stenosis
Genetics & variants
GWAS landscape
41 GWAS associations across 27 studies. Top hits map to 14 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs11635145 | 1e-22 | SMAD3 | A | 0.07 |
| chr4:12889196 | 9e-21 | A | 0.08 | |
| rs4834903 | 4e-18 | ECM1P2 - U6 | A | 0.07 |
| rs34616559 | 4e-18 | SOX5 | C | 0.08 |
| rs12908498 | 2e-17 | SMAD3 | C | 0.07 |
| rs12048493 | 3e-17 | OTUD7B | A | 0.06 |
| rs7422275 | 2e-16 | ANTXR1 - GFPT1 | C | 0.06 |
| rs13107325 | 3e-16 | SLC39A8 | C | 0.12 |
| rs11205303 | 1e-15 | MTMR11 | T | 0.06 |
| rs28843490 | 2e-15 | NFU1 | C | 0.06 |
| rs2747063 | 1e-14 | NGF, NGF-AS1 | T | 0.05 |
| rs4432100 | 2e-14 | SOX5 | C | 0.06 |
| chr4:12893993 | 3e-14 | A | 0.08 | |
| rs4834902 | 1e-13 | ECM1P2 - U6 | C | 0.07 |
| rs28613758 | 2e-13 | SMAD3 | T | 0.11 |
| rs9357446 | 3e-13 | CDC5L - SUPT3H | G | 0.05 |
| chr12:23939000 | 3e-13 | C | 0.06 | |
| chr1:115829986 | 3e-12 | C | 0.05 | |
| chr16:81515428 | 1e-11 | C | 0.05 | |
| rs6728752 | 9e-10 | GFPT1 | A | 0.09 |
| rs7298820 | 9e-10 | PDE3A | T | 0.11 |
| rs2183749 | 3e-09 | LINC00375 - LINC00351 | C | 0.09 |
| rs2637678 | 9e-09 | CALHM6 - TRAPPC3L | C | 0.09 |
| rs1040851 | 1e-08 | ASTN2 | A | 0.09 |
| rs2356581 | 2e-08 | NASP | A | 0.23 |
| rs7808567 | 2e-08 | AGMO | T | 0.12 |
| rs184579809 | 3e-08 | MGAT4D - ELMOD2 | C | 0.97 |
| rs143958409 | 3e-08 | LINC01607 - MRPS28 | T | 0.44 |
| rs2051706 | 4e-08 | DYNC1I1 | G | 0.1 |
| rs56679859 | 2e-07 | ZYXP1 - FAM135B | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90476233 | Verma A | 2024 | 43,559 | 384,389 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476234 | Verma A | 2024 | 28,461 | 405,965 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST011522 | Suri P | 2021 | 23,411 | 82,405 | Genome-wide association studies of low back pain and lumbar spinal disorders using electronic health record data identify a locus associated with lumbar spinal stenosis. |
| GCST90478886 | Verma A | 2024 | 12,719 | 102,556 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480507 | Verma A | 2024 | 12,719 | 102,556 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90018922 | Sakaue S | 2021 | 9,660 | 445,127 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST011523 | Suri P | 2021 | 8,326 | 97,106 | Genome-wide association studies of low back pain and lumbar spinal disorders using electronic health record data identify a locus associated with lumbar spinal stenosis. |
| GCST90478888 | Verma A | 2024 | 7,774 | 109,409 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480506 | Verma A | 2024 | 7,774 | 109,409 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90281186 | Bovonratwet P | 2023 | 6,944 | 382,469 | Identification of Novel Genetic Markers for the Risk of Spinal Pathologies: A Genome-Wide Association Study of 2 Biobanks. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 2 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 28 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 28 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 3 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 19 |
| unknown | 5 |
| intergenic_variant | 4 |
| missense_variant | 2 |
| 5_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs11635145 | 15 | 67077783 | A>G | 0.459 | intron_variant | SMAD3 | 1e-22 | Tier 4: intronic/intergenic |
| chr4:12889196 | 0.231 | 9e-21 | Tier 4: intronic/intergenic | |||||
| rs4834903 | 4 | 12888390 | A>C,G,T | 0.253 | intron_variant | ECM1P2 - U6 | 4e-18 | Tier 4: intronic/intergenic |
| rs34616559 | 12 | 23794763 | C>T | 0.144 | intron_variant | SOX5 | 4e-18 | Tier 4: intronic/intergenic |
| rs12908498 | 15 | 67074150 | C>A,G,T | 0.442 | intron_variant | SMAD3 | 2e-17 | Tier 4: intronic/intergenic |
| rs12048493 | 1 | 149955122 | A>C | 0.384 | intron_variant | OTUD7B | 3e-17 | Tier 4: intronic/intergenic |
| rs7422275 | 2 | 69301565 | C>A,T | 0.384 | intron_variant | ANTXR1 - GFPT1 | 2e-16 | Tier 4: intronic/intergenic |
| rs13107325 | 4 | 102267552 | C>A,T | 0.083 | missense_variant | SLC39A8 | 3e-16 | Tier 1: coding |
| rs11205303 | 1 | 149934520 | T>C | 0.334 | missense_variant | MTMR11 | 1e-15 | Tier 1: coding |
| rs28843490 | 2 | 69404797 | C>G,T | 0.367 | intron_variant | NFU1 | 2e-15 | Tier 4: intronic/intergenic |
| rs2747063 | 1 | 115288010 | T>A,C | 0.444 | 5_prime_UTR_variant | NGF, NGF-AS1 | 1e-14 | Tier 2: splice/UTR |
| rs4432100 | 12 | 23783889 | C>A,T | 0.426 | intron_variant | SOX5 | 2e-14 | Tier 4: intronic/intergenic |
| chr4:12893993 | 0.226 | 3e-14 | Tier 4: intronic/intergenic | |||||
| rs4834902 | 4 | 12884330 | C>A,G,T | 0.269 | intron_variant | ECM1P2 - U6 | 1e-13 | Tier 4: intronic/intergenic |
| rs28613758 | 15 | 67076321 | C>A,G,T | 0.05 | intron_variant | SMAD3 | 2e-13 | Tier 4: intronic/intergenic |
| rs9357446 | 6 | 44479861 | G>A,C,T | 0.477 | intergenic_variant | CDC5L - SUPT3H | 3e-13 | Tier 4: intronic/intergenic |
| chr12:23939000 | 0.404 | 3e-13 | Tier 4: intronic/intergenic | |||||
| chr1:115829986 | 0.445 | 3e-12 | Tier 4: intronic/intergenic | |||||
| chr16:81515428 | 0.395 | 1e-11 | Tier 4: intronic/intergenic | |||||
| rs6728752 | 2 | 69352318 | T>A | 0.05 | intron_variant | GFPT1 | 9e-10 | Tier 4: intronic/intergenic |
| rs7298820 | 12 | 20428405 | A>C,G,T | 0.05 | intron_variant | PDE3A | 9e-10 | Tier 4: intronic/intergenic |
| rs2183749 | 13 | 85351902 | A>C | 0.05 | intron_variant | LINC00375 - LINC00351 | 3e-09 | Tier 4: intronic/intergenic |
| rs2637678 | 6 | 116466215 | T>C | 0.05 | intergenic_variant | CALHM6 - TRAPPC3L | 9e-09 | Tier 4: intronic/intergenic |
| rs1040851 | 9 | 116481355 | C>A,G | 0.05 | intron_variant | ASTN2 | 1e-08 | Tier 4: intronic/intergenic |
| rs2356581 | 1 | 45616268 | T>A,C,G | 0.05 | intron_variant | NASP | 2e-08 | Tier 4: intronic/intergenic |
| rs7808567 | 7 | 15384182 | C>T | 0.05 | intron_variant | AGMO | 2e-08 | Tier 4: intronic/intergenic |
| rs184579809 | 4 | 140515349 | T>C | intergenic_variant | MGAT4D - ELMOD2 | 3e-08 | Tier 4: intronic/intergenic | |
| rs143958409 | 8 | 79857917 | C>T | intron_variant | LINC01607 - MRPS28 | 3e-08 | Tier 4: intronic/intergenic | |
| rs2051706 | 7 | 95977195 | A>G,T | 0.05 | intron_variant | DYNC1I1 | 4e-08 | Tier 4: intronic/intergenic |
| rs56679859 | 8 | 137747329 | A>G | intergenic_variant | ZYXP1 - FAM135B | 2e-07 | 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
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Ketamine | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bupivacaine.
Clinical trials & evidence
Clinical trials
Clinical trials: 370.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 307 |
| PHASE4 | 34 |
| PHASE3 | 10 |
| PHASE2 | 6 |
| PHASE1/PHASE2 | 5 |
| PHASE2/PHASE3 | 3 |
| EARLY_PHASE1 | 3 |
| PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05029726 | PHASE4 | RECRUITING | Regional Anesthesia in Minimally Invasive Lumbar Spine Surgery |
| NCT06157177 | PHASE4 | RECRUITING | Efficacy of M640 in Acute Lumbosacral Musculoskeletal Conditions. |
| NCT00000409 | PHASE4 | COMPLETED | Spine Patient Outcomes Research Trial (SPORT): Degenerative Spondylolisthesis With Spinal Stenosis |
| NCT00000411 | PHASE4 | COMPLETED | Spine Patient Outcomes Research Trial (SPORT): Spinal Stenosis |
| NCT00095095 | PHASE4 | TERMINATED | Lumbar Interbody Fusion Using the Telamon® Peek™ Versus the Telamon® Hydrosorb™ Fusion Device |
| NCT00493558 | PHASE4 | COMPLETED | Spine Research With Roentgen Stereophotogrammetric Analysis |
| NCT00517751 | PHASE4 | TERMINATED | Condition of Approval Study |
| NCT00558129 | PHASE4 | WITHDRAWN | Effects of X-STOP® Versus Laminectomy Study |
| NCT00638443 | PHASE4 | COMPLETED | Lumbar Stenosis Outcomes Research (LUSTOR) |
| NCT00652093 | PHASE4 | TERMINATED | Lumbar Stenosis Outcomes Research II |
| NCT00808665 | PHASE4 | COMPLETED | Intraoperative Infusion of Precedex to Reduce Length of Stay After Lumbar Spine Fusion |
| NCT00887744 | PHASE4 | COMPLETED | Intermittent Neurogenic Claudication Treatment With APERIUS® |
| NCT00905359 | PHASE4 | COMPLETED | Neurogenic Intermittent Claudication Evaluation Study |
| NCT00908375 | PHASE4 | COMPLETED | Efficacy of Pregabalin in Patients With Radicular Pain |
| NCT00956631 | PHASE4 | COMPLETED | MiDAS I (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study |
| NCT00995371 | PHASE4 | COMPLETED | Study of Epidural Steroid Injection (ESI) Versus Minimally Invasive Lumbar Decompression (Mild®) in Patients With Symptomatic Lumbar Central Canal Stenosis |
| NCT01052324 | PHASE4 | COMPLETED | The Effect Site Concentration of Remifentanil for Conscious Sedation During Awake Nasotracheal Fiberoptic Intubation |
| NCT01057641 | PHASE4 | TERMINATED | Study on the Treatment of Degenerative Lumbar Spine Stenosis With a Percutaneous Interspinous Implant |
| NCT01082159 | PHASE4 | COMPLETED | MiDAS II (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study |
| NCT01127100 | PHASE4 | COMPLETED | Gabapentin Versus Transdermal Fentanyl Matrix for Chronic Neuropathic Pain |
| NCT01238536 | PHASE4 | COMPLETED | Lumbar Epidural Steroid Injections for Spinal Stenosis Multicenter Randomized, Controlled Trial (LESS Trial) |
| NCT01921530 | PHASE4 | UNKNOWN | Interbody vs Instrumented Posterolateral Fusion Following Decompression for Lumbar Spinal Stenosis With Degenerative Spondylolisthesis |
| NCT01934868 | PHASE4 | COMPLETED | Prolotherapy Versus Epidural Steroid Injections (ESI) for Lumbar Pain Radiating to the Leg |
| NCT02063035 | PHASE4 | COMPLETED | Effectiveness Study of the Drug Tranexamic Acid to Reduce Post-surgery Blood Loss in Spinal Surgery |
| NCT02090244 | PHASE4 | COMPLETED | Does PTH 1-34 (Teriparatide) Enhance Spinal Fusion in Humans? |
| NCT02271191 | PHASE4 | COMPLETED | Effect of Nicardipine on Renal Function in Deliberate Hypotension |
| NCT02416804 | PHASE4 | COMPLETED | Postoperative Analgesia With Buprenorphine for Postoperative Pain Control and Quality of Life After Spinal Surgery |
| NCT03223701 | PHASE4 | WITHDRAWN | Efficacy of Using Solum IV and BMC With GFC in TLIF |
| NCT03245671 | PHASE4 | WITHDRAWN | Particulate vs. Nonparticulate Epidural Steroid Injections for Lumbar Foraminal Stenosis |
| NCT03745040 | PHASE4 | SUSPENDED | Liposomal Bupivacaine in One-level Instrumented Posterior Spinal Fusion |
| NCT04391855 | PHASE4 | COMPLETED | Wound Infiltration With Tramadol, Dexmedetomidine, or Magnesium Plus Ropivacaine for Pain Relief After Spine Surgery |
| NCT05345249 | PHASE4 | COMPLETED | Erector Spinae Plane Block as Pain Management After Lumbar Fusion Surgery |
| NCT05871073 | PHASE4 | COMPLETED | Dexamethasone as Adjuvant to Ropivacaine in Wound Infiltration for Postoperative Analgesia Following Spinal Surgery |
| NCT06233617 | PHASE4 | COMPLETED | Dexamethasone vs. Dexmedetomidine for ESPB in Pain Management After Spine Surgery |
| NCT05058287 | PHASE3 | RECRUITING | Lumbar Steroid Use in Patients Undergoing Posterior Lumbar Decompression |
| NCT06140927 | PHASE3 | RECRUITING | Effect of Ketamine on Intraoperative Motor Evoked Potentials |
| NCT00022776 | PHASE3 | COMPLETED | Surgical Versus Nonsurgical Treatment for Spinal Stenosis |
| NCT00109213 | PHASE3 | COMPLETED | Greenwich Lumbar Stenosis SLIP Study |
| NCT00405691 | PHASE3 | COMPLETED | Safety and Effectiveness Study of the TOPS System, a Total Posterior Arthroplasty Implant Designed to Alleviate Pain Resulting From Moderate to Severe Lumbar Stenosis |
| NCT00418197 | PHASE3 | UNKNOWN | Total Facet Arthroplasty System®(TFAS®) Clinical Trial |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| DEXMEDETOMIDINE | 4 | 3 |
| DEXAMETHASONE SODIUM PHOSPHATE | 4 | 2 |
| PREGABALIN | 4 | 2 |
| BUPRENORPHINE | 4 | 1 |
| DIPHENHYDRAMINE | 4 | 1 |
| ESKETAMINE | 4 | 1 |
| GABAPENTIN | 4 | 1 |
| METHYLPREDNISOLONE ACETATE | 4 | 1 |
| NICARDIPINE | 4 | 1 |
| REMIFENTANIL | 4 | 1 |
| SODIUM CHLORIDE | 4 | 1 |
| TERIPARATIDE | 4 | 1 |
| TRAMADOL | 4 | 1 |
| TRANEXAMIC ACID | 4 | 1 |
| REXLEMESTROCEL-L | 3 | 3 |
| ALANINE | 3 | 1 |
| MEDETOMIDINE | 3 | 1 |
| TEICOPLANIN | 3 | 1 |
| LUFENURON | 2 | 1 |
| CHEMBL4059722 | 0 | 1 |
| CHEMBL452845 | 0 | 1 |
| CHEMBL2105779 | 0 | 1 |
| CHEMBL2367892 | 0 | 1 |
| CHEMBL1200637 | 0 | 1 |
| CHEMBL4743806 | 0 | 1 |
| (R,R)-TRAMADOL | 0 | 1 |
| TEICOPLANIN A2-3 | -1 | 1 |