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Atlas / Disease / Spinal cord injury

Spinal cord injury

disease
On this page

Also known as contusion, spinal cordContusions, spinal cordcord contusion, spinalcord Contusions, spinalcord Injuries, spinalcord injury, spinalcord laceration, spinalcord Lacerations, spinalcord transection, spinalcord Transections, spinalcord trauma, spinalcord Traumas, spinalInjuries, spinal cordinjury of spinal cordinjury, spinal cordlaceration, spinal cordLacerations, spinal cordMyelopathies, post-traumaticMyelopathies, traumaticmyelopathy, post-traumatic

Summary

Spinal cord injury (MONDO:0043797) is a disease with 13 GWAS associations across 19 studies and 1,593 clinical trials. Top therapeutic interventions include glycopyrronium, midodrine, and buspirone. A subtype of vertebral column disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
  • GWAS associations: 13
  • Phenotypes (HPO): 15
  • Clinical trials: 1,593

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Point prevalence1-5 / 10 00032EuropeValidated
Annual incidence1-9 / 100 0003.57CanadaValidated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO IDTermFrequency
HP:0100561Spinal cord lesionVery frequent (80-99%)
HP:0001257SpasticityFrequent (30-79%)
HP:0002315HeadacheFrequent (30-79%)
HP:0002839Urinary bladder sphincter dysfunctionFrequent (30-79%)
HP:0003474Somatic sensory dysfunctionFrequent (30-79%)
HP:0010549Weakness due to upper motor neuron dysfunctionFrequent (30-79%)
HP:0012332Abnormal autonomic nervous system physiologyFrequent (30-79%)
HP:0000016Urinary retentionOccasional (5-29%)
HP:0002590Paralytic ileusOccasional (5-29%)
HP:0002953Vertebral compression fractureOccasional (5-29%)
HP:0003072HypercalcemiaOccasional (5-29%)
HP:0003396SyringomyeliaOccasional (5-29%)
HP:0007185Loss of consciousnessOccasional (5-29%)
HP:0012533AllodyniaOccasional (5-29%)
HP:0012534DysesthesiaOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical namespinal cord injury
Mondo IDMONDO:0043797
MeSHD013119
Orphanet90058
SNOMED CT90584004
Anatomy (UBERON)UBERON:0002240
Is cancer (heuristic)no

Also known as: contusion, spinal cord · Contusions, spinal cord · cord contusion, spinal · cord Contusions, spinal · cord Injuries, spinal · cord injury, spinal · cord laceration, spinal · cord Lacerations, spinal · cord transection, spinal · cord Transections, spinal · cord trauma, spinal · cord Traumas, spinal · Injuries, spinal cord · injury of spinal cord · injury, spinal cord · laceration, spinal cord · Lacerations, spinal cord · Myelopathies, post-traumatic · Myelopathies, traumatic · myelopathy, post-traumatic (+19 more)

Data availability: 13 GWAS associations (19 studies).

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 cord injury

Related subtypes (14): spondylocostal dysostosis, sacrum chordoma, epidural spinal canal neoplasm, Baastrup syndrome, lumbosacral lipoma, spinal stenosis, intervertebral disk degenerative disorder, coccygodynia, vertebral joint disorder, sacrococcygeal teratoma, tuberculosis, spinal, vertebral disorder, lumbar disk disease, dropped head syndrome

Genetics & variants

GWAS landscape

13 GWAS associations across 19 studies. Top hits map to 8 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs5291970059e-14LINC02476A2.35
rs7477714221e-13COL27A1C2.85
rs754364711e-12SHISA9T2.48
rs5681719162e-12TUSC1 - LINC01241C2.8
rs5602833453e-12KMT2BC2.64
rs5296183353e-12RPS14P7 - FSTL5C2.62
rs3761949563e-12PCAT1G2.54
rs1844426474e-12TUSC3G2.5
rs1413115136e-12SLC16A14P1 - OXR1A1.79
rs5396901502e-11MTHFD1L - RNU6-300PG3.02
rs3722323314e-11RBM46 - NPY2R-AS1G3.56
rs5397287624e-11TRPS1T2.93
rs10111168e-08IFI16?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90476965Verma A202421,201294,467Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479112Verma A202414,863432,454Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476968Verma A20247,878307,790Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476964Verma A20243,61851,887Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481198Verma A20243,61851,887Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479111Verma A20242,951117,979Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481143Verma A20242,951117,979Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476963Verma A20242,32526,989Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476967Verma A20242,07553,430Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481200Verma A20242,07553,430Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic13

MAF distribution

BucketVariants
common (>=0.05)1
low_freq (0.01-0.05)0
rare (<0.01)12
unknown0

Functional consequences

ConsequenceCount
intron_variant9
intergenic_variant4

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs5291970057119866337A>C0.001intron_variantLINC024769e-14Tier 4: intronic/intergenic
rs7477714229114232265C>T0.001intron_variantCOL27A11e-13Tier 4: intronic/intergenic
rs754364711613085271T>A0.001intron_variantSHISA91e-12Tier 4: intronic/intergenic
rs568171916925743751C>A0intergenic_variantTUSC1 - LINC012412e-12Tier 4: intronic/intergenic
rs5602833451935737569C>A,G,T0.001intron_variantKMT2B3e-12Tier 4: intronic/intergenic
rs5296183354160994954C>T0intergenic_variantRPS14P7 - FSTL53e-12Tier 4: intronic/intergenic
rs3761949568126882910G>A,T0intron_variantPCAT13e-12Tier 4: intronic/intergenic
rs184442647815477591G>A,C,T0intron_variantTUSC34e-12Tier 4: intronic/intergenic
rs1413115138106246389A>G0.002intergenic_variantSLC16A14P1 - OXR16e-12Tier 4: intronic/intergenic
rs5396901506151152038G>A0.001intron_variantMTHFD1L - RNU6-300P2e-11Tier 4: intronic/intergenic
rs3722323314154918759G>A0.001intergenic_variantRBM46 - NPY2R-AS14e-11Tier 4: intronic/intergenic
rs5397287628115599431T>C,G0intron_variantTRPS14e-11Tier 4: intronic/intergenic
rs10111161159041133A>T0.05intron_variantIFI168e-08Tier 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

2 approved, 8 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
BaclofenApproved (phase 4)
PregabalinApproved (phase 4)
DalfampridinePhase 3 (in late-stage trials)
Epoetin BetaPhase 3 (in late-stage trials)
MethylprednisolonePhase 3 (in late-stage trials)
MidodrinePhase 3 (in late-stage trials)
MinocyclinePhase 3 (in late-stage trials)
Risedronic AcidPhase 3 (in late-stage trials)
SomatropinPhase 3 (in late-stage trials)
TirilazadPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Albuterol, Buspirone, Cannabinol, Ergocalciferol, Imatinib, Levocarnitine, Levodopa, Lithium Carbonate, Onabotulinumtoxina, Oxitriptan, Oxycodone, Riluzole, Rimonabant, Sodium Chloride, Sovatelitide, Testosterone, Testosterone Undecanoate.

Clinical trials & evidence

Clinical trials

Clinical trials: 1,593.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified747
PHASE2101
PHASE166
PHASE1/PHASE263
PHASE446
PHASE332
PHASE2/PHASE326
EARLY_PHASE119

Top trials by phase / activity

NCTPhaseStatusTitle
NCT02922894PHASE4RECRUITINGTreatment of Sleep Apnea in Patients With Cervical Spinal Cord Injury
NCT05101018PHASE4ACTIVE_NOT_RECRUITINGTreatment With Romosozumab Versus Denosumab to Improve Bone Mineral Density and Architecture in Subacute SCI
NCT05302999PHASE4RECRUITINGFeasibility of Early Gabapentin as an Intervention for Neurorecovery
NCT06654804PHASE4RECRUITINGContrast-enhanced Ultrasound in the Treatment of Acute Spinal Cord Injury
NCT06706284PHASE4RECRUITINGGlycemic and Weight Loss Effects of GLP-1R Agonist Therapy in Subjects With Spinal Cord Injury and Type 2 Diabetes
NCT07272967PHASE4NOT_YET_RECRUITINGMetformin in Preventing Secondary Gliosis Following Acute Thoraco-Lumbar Spinal Cord Injury
NCT07303582PHASE4RECRUITINGIndividualised Cryoneurolysis to Treat Pain in the Context of Spasticity in the Upper and Lower Extremities
NCT00006428PHASE4COMPLETEDChronic Pain in Spinal Cord Injury
NCT00201968PHASE4UNKNOWNFunctional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury
NCT00252954PHASE4COMPLETEDLevetiracetam in Chronic Neuropathic Pain Following Spinal Cord Injury
NCT00286520PHASE4COMPLETEDTreatment of Fecal Incontinence and Constipation in Patients With Spinal Cord Injury
NCT00320281PHASE4COMPLETEDInvestigating Botulinum Toxin A to Treat Acute Neck/Upper Shoulder Pain Following a New Spinal Cord Injury.
NCT00507546PHASE4COMPLETEDFunctional Melatonin Replacement for Sleep Disruptions in Individuals With Tetraplegia
NCT00592384PHASE4COMPLETEDProject to Improve Symptoms and Mood in People With Spinal Cord Injury
NCT00654082PHASE4COMPLETEDA Study Evaluating the Efficacy and Safety of Sildenafil in Men With Traumatic Spinal Cord Injury and Erectile Dysfunction
NCT00667966PHASE4COMPLETEDAssess Efficacy in Subjects With Traumatic Spinal Cord Injury
NCT00745095PHASE4COMPLETEDEfficacy and Safety of Standard Oral Colonoscopic Preparations With or Without Neostigmine Compared to Pulse-Irrigation Colonic Lavage
NCT00800462PHASE4COMPLETEDComparative Study of the Efficacy and Safety of Muscarinic M3 Receptors Antagonists in the Treatment of Neurogenic Detrusor Overactivity
NCT00826228PHASE4COMPLETEDEffect of Parathyroid Hormone (PTH) and Weight-Bearing on Bone in Spinal Cord Injury (SCI)
NCT00869427PHASE4TERMINATEDVitamin C for Prevention of Urinary Tract Infections in the Spinal Cord Injured
NCT01067391PHASE4COMPLETEDEffect of Tadalafil (Cialis) on the Cardiovascular System of Spinal Cord Injury (SCI) Males
NCT01479556PHASE4UNKNOWNPregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain
NCT01567605PHASE4COMPLETEDBowel Care and Cardiovascular Function After Spinal Cord Injury
NCT01579500PHASE4COMPLETEDNeuropathic Pain Study With Botulinum Toxin A in Spinal Cord Injury Patients
NCT01698138PHASE4COMPLETEDPrevention of Bladder Dysfunction in Acute Spinal Cord Injury
NCT01896037PHASE4COMPLETEDOmega-3 Supplementation for Tetraplegics With Poor Cholesterol Levels
NCT01943656PHASE4UNKNOWNEyegaze Systems for Spinal Cord Injury: A Feasibility Study
NCT01943669PHASE4UNKNOWNExoskeletons for Spinal Cord Injury: A Feasibility Study
NCT01983475PHASE4UNKNOWNDenosumab Administration After Spinal Cord Injury
NCT02001558PHASE4COMPLETEDPressure Ulcer Healing With Microcyn
NCT02052024PHASE4COMPLETEDMyobloc Atrophy Study
NCT02180880PHASE4COMPLETEDSymptom Based Treatment of Neuropathic Pain
NCT02355938PHASE4TERMINATEDUse Of Oral Fidaxomicin Vs. Oral Vancomycin For Clostridium Difficile Infection In Patients With Spinal Cord Injury
NCT02508311PHASE4TERMINATEDAlbuterol to Improve Respiratory Strength in SCI
NCT02537899PHASE4COMPLETEDSpinal Cord Injury - Assessing Tolerability and Use of Combined Rehabilitation and NeuroAiD
NCT02635893PHASE4COMPLETEDLower Limb Function After Spinal Cord Injury
NCT02970773PHASE4WITHDRAWNAbsorption of Rivaroxaban in Patients With Cervical Spinal Cord Injury
NCT03029442PHASE4TERMINATEDThe Efficacy of Denosumab in Incomplete Patients Spinal Cord Injury
NCT03292315PHASE4COMPLETEDOnce Weekly GLP-1 in Persons With Spinal Cord Injury
NCT03602014PHASE4COMPLETEDDose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
GLYCOPYRRONIUM413
MIDODRINE48
BUSPIRONE46
CARBIDOPA ANHYDROUS46
DEXTROMETHORPHAN46
OXYBUTYNIN46
ALENDRONIC ACID44
NEOSTIGMINE44
RILUZOLE44
ROMOSOZUMAB44
AMITRIPTYLINE43
DALFAMPRIDINE43
DENOSUMAB43
ESCITALOPRAM OXALATE43
LITHIUM CARBONATE43
PREGABALIN43
SILDENAFIL43
TERIPARATIDE43
BACLOFEN42
BRIVARACETAM42
DROXIDOPA42
GABAPENTIN42
GENTAMICIN SULFATE42
GLYBURIDE42
LEVODOPA42
MINOCYCLINE42
MIRABEGRON42
RIMONABANT42
TADALAFIL42
TESTOSTERONE ENANTHATE42

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 18

This page pulls from 18 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpefogenccgwasgwas_studyhgncmeshmimmondomondochildmondoparentorphanetsctiduberon