Mononeuropathy

disease
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Summary

Mononeuropathy (MONDO:0001397) is a disease (an umbrella term covering 7 Mondo subtypes) with 29 GWAS associations across 13 studies and 4 clinical trials. Top therapeutic interventions include fulranumab. A subtype of peripheral neuropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Umbrella term: 7 Mondo subtypes
  • GWAS associations: 29
  • Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namemononeuropathy
Mondo IDMONDO:0001397
EFOEFO:0009558
MeSHD020422
DOIDDOID:1188
ICD-111866592137
SNOMED CT128189008
UMLSC0494491
MedGen99214
Is cancer (heuristic)no

Data availability: 29 GWAS associations (13 studies).

Disease family

This is a subtype of peripheral neuropathy. 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 › nervous system disorderperipheral nervous system disorderperipheral neuropathymononeuropathy

Related subtypes (29): autoimmune neuropathy, autonomic neuropathy, ischemic neuropathy, polyneuropathy, neuritis, motor peripheral neuropathy, sensory peripheral neuropathy, uremic neuropathy, nerve compression syndrome, axonal neuropathy, diabetic neuropathy, acquired peripheral neuropathy, hereditary peripheral neuropathy, neuralgia, peripheral nerve lesion, nerve plexus disorder, traumatic neuropathy, radiation-induced neuropathy, vasculitic neuropathy, chronic idiopathic neuropathy, chemotherapy-induced neuropathy, infectious neuropathy, vitamin deficiency related neuropathy, paraproteinemia-associated neuropathy, neuropathy in cryoglobulinemia, neuropathy in endocrine disorder, sarcoid neuropathy, neuropathy, small fiber, idiopathic small fibers neuropathy

Subtypes (7): radial neuropathy, mononeuritis simplex, peroneal neuropathy, femoral neuropathy, sciatic neuropathy, tibial neuropathy, ulnar neuropathy

Genetics & variants

GWAS landscape

29 GWAS associations across 13 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
chr2:2172818201e-17A0.09
chr4:131958935e-16T0.11
chr19:86052621e-15T0.19
chr2:558697571e-15G0.09
chr2:599218058e-15G0.07
chr9:1268992773e-12TA0.07
chr3:1247563545e-12G0.09
chr4:83236531e-11C0.07
chr9:925141241e-11C0.07
chr14:943786101e-10T0.23
chr15:1001527483e-10A0.09
chr16:537653674e-10T0.06
chr2:1760288184e-10T0.07
chr2:331806152e-09G0.06
chr9:1335654972e-09A0.08
chr1:1499467192e-09G0.07
chr10:982407973e-09ATT0.06
chr1:1027669615e-09G0.06
chr1:220640841e-08C0.06
chr15:667424741e-08A0.06
chr10:1196633242e-08C0.06
chr10:275893912e-08T0.07
chr5:835193392e-08G0.13
chr3:1361572832e-08G0.06
chr10:215107973e-08C0.05
chr6:850867353e-08CA0.08
chr7:441299733e-08C0.06
chr5:733432744e-08C2.21
chr1:684848375e-08A2.34

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90473344UK Biobank Whole-Genome Sequencing Consortium202524,005434,435Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667898UK Biobank Whole-Genome Sequencing Consortium202524,005434,435Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90079846Backman JD202113,929368,599Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083832Backman JD202113,929368,599Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90473346UK Biobank Whole-Genome Sequencing Consortium20255,054453,386Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473347UK Biobank Whole-Genome Sequencing Consortium20252,721455,719Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90726796Kim HI20262,70541,321Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90079848Backman JD20212,301383,611Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083834Backman JD20212,301383,611Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90473345UK Biobank Whole-Genome Sequencing Consortium20254829,131Whole-genome sequencing of 490,640 UK Biobank participants.

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/intergenic29

MAF distribution

BucketVariants
common (>=0.05)0
low_freq (0.01-0.05)0
rare (<0.01)0
unknown29

Functional consequences

ConsequenceCount
unknown29

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
chr2:2172818201e-17Tier 4: intronic/intergenic
chr4:131958935e-16Tier 4: intronic/intergenic
chr19:86052621e-15Tier 4: intronic/intergenic
chr2:558697571e-15Tier 4: intronic/intergenic
chr2:599218058e-15Tier 4: intronic/intergenic
chr9:1268992773e-12Tier 4: intronic/intergenic
chr3:1247563545e-12Tier 4: intronic/intergenic
chr4:83236531e-11Tier 4: intronic/intergenic
chr9:925141241e-11Tier 4: intronic/intergenic
chr14:943786101e-10Tier 4: intronic/intergenic
chr15:1001527483e-10Tier 4: intronic/intergenic
chr16:537653674e-10Tier 4: intronic/intergenic
chr2:1760288184e-10Tier 4: intronic/intergenic
chr2:331806152e-09Tier 4: intronic/intergenic
chr9:1335654972e-09Tier 4: intronic/intergenic
chr1:1499467192e-09Tier 4: intronic/intergenic
chr10:982407973e-09Tier 4: intronic/intergenic
chr1:1027669615e-09Tier 4: intronic/intergenic
chr1:220640841e-08Tier 4: intronic/intergenic
chr15:667424741e-08Tier 4: intronic/intergenic
chr10:1196633242e-08Tier 4: intronic/intergenic
chr10:275893912e-08Tier 4: intronic/intergenic
chr5:835193392e-08Tier 4: intronic/intergenic
chr3:1361572832e-08Tier 4: intronic/intergenic
chr10:215107973e-08Tier 4: intronic/intergenic
chr6:850867353e-08Tier 4: intronic/intergenic
chr7:441299733e-08Tier 4: intronic/intergenic
chr5:733432744e-08Tier 4: intronic/intergenic
chr1:684848375e-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

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
PregabalinPhase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified3
PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00964990PHASE2TERMINATEDA Study to Evaluate the Efficacy, Safety, and Tolerability of JNJ-42160443 in Patients With Neuropathic Pain (Postherpetic Neuralgia and Post-traumatic Neuralgia)
NCT06546371Not specifiedRECRUITINGSpinal Cord Stimulation for Intractable Mononeuropathy
NCT07166302Not specifiedRECRUITINGUltrasound Evaluation of Hematoma Risk After Needle EMG in Patient on DOAC Therapy
NCT07515989Not specifiedRECRUITINGAccuracy of the Polymerase Chain Reaction of Ulnar Perineural Subcutaneous Aspirate Guided by Ultrasound for the Diagnosis and Monitoring of Leprosy Cure

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
FULRANUMAB31