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Atlas / Disease / Esophageal varices

Esophageal varices

disease
On this page

Also known as bleeding esophageal varicesbleeding oesophageal varicesesophageal varixesophagus varicose diseaseoesophagus varicose diseasevaricose disease of esophagusvaricose disease of oesophagus

Summary

Esophageal varices (MONDO:0001221) is a disease with 8 GWAS associations across 14 studies and 59 clinical trials. Top therapeutic interventions include propranolol, carvedilol, and octreotide. A subtype of esophageal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • GWAS associations: 8
  • Clinical trials: 59

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameesophageal varices
Mondo IDMONDO:0001221
EFOEFO:0009545
MeSHD004932
DOIDDOID:112
ICD-10-CMI85, I85.0
NCITC53506
SNOMED CT28670008
UMLSC0014867
MedGen5027
Anatomy (UBERON)UBERON:0001043
Is cancer (heuristic)no

Also known as: bleeding esophageal varices · bleeding oesophageal varices · esophageal varices · esophageal varix · esophagus varicose disease · oesophagus varicose disease · varicose disease of esophagus · varicose disease of oesophagus

Data availability: 8 GWAS associations (14 studies).

Disease family

This is a subtype of esophageal 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 › digestive system disorder › upper digestive tract disorder › esophageal disorder › esophageal varices

Related subtypes (19): esophageal atresia, esophagitis, megaesophagus, esophageal tuberculosis, esophageal leukoplakia, dyskinesia of esophagus, esophageal diverticulosis, gastroesophageal reflux disease, esophageal atresia/tracheoesophageal fistula, achalasia, Barrett esophagus, esophageal duplication cyst, tubular duplication of the esophagus, laryngotracheoesophageal cleft, isolated tracheo-esophageal fistula, congenital esophageal diverticulum, neoplasm of esophagus, esophageal ulcer, congenital esophageal stenosis

Subtypes (2): esophageal varices without bleeding, esophageal varices with bleeding

Genetics & variants

GWAS landscape

8 GWAS associations across 14 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs7384096e-126PNPLA3C0.47
rs729990333e-24HAPLN4C0.38
rs585429263e-20TM6SF2C0.33
rs37472073e-18PNPLA3G0.44
rs124848092e-15PNPLA3?
rs94876661e-09TRAF3IP2-AS1C0.18

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90476050Verma A20244,672441,389Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90018842Sakaue S20212,135434,019A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90436305Zhou W20181,672369,275Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90473616UK Biobank Whole-Genome Sequencing Consortium20251,231457,209Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90478326Verma A2024996119,714Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480292Verma A2024996119,714Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90044124Jiang L2021957455,391A generalized linear mixed model association tool for biobank-scale data.
GCST90651209Liu TY2025937195,643Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90476049Verma A202489658,442Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080076Backman JD2021684387,221Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding2
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic3

MAF distribution

BucketVariants
common (>=0.05)5
low_freq (0.01-0.05)1
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant3
missense_variant1
3_prime_UTR_variant1
stop_gained1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs7384092243928847C>A,G,T0.226missense_variantPNPLA36e-126Tier 1: coding
rs729990331919255823C>T0.0493_prime_UTR_variantHAPLN43e-24Tier 2: splice/UTR
rs585429261919268740C>A,T0.075stop_gainedTM6SF23e-20Tier 1: coding
rs37472072243928975G>A,C,T0.406intron_variantPNPLA33e-18Tier 4: intronic/intergenic
rs124848092243929751C>T0.05intron_variantPNPLA32e-15Tier 4: intronic/intergenic
rs94876666111547821A>C,T0.05intron_variantTRAF3IP2-AS11e-09Tier 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

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

DrugDevelopment status
Ethanolamine OleateApproved (phase 4)
EnbucrilatePhase 3 (in late-stage trials)
NorfloxacinPhase 3 (in late-stage trials)
PropranololPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Carvedilol.

Clinical trials & evidence

Clinical trials

Clinical trials: 59.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified33
PHASE412
PHASE310
PHASE2/PHASE31
PHASE1/PHASE21
PHASE21
PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT06594744PHASE4RECRUITINGEndoscopic Variceal Ligation vs Carvedilol for the Prevention of First Esophageal Variceal Bleeding in Patients With HCC
NCT06594783PHASE4RECRUITINGCarvedilol Plus EVL or Not for the Primary Prevention of Esophageal Variceal Bleeding in Carvedilol Non-responders
NCT00369694PHASE4COMPLETEDShort Course Terlipressin for Control of Acute Variceal Bleeding
NCT01059396PHASE4COMPLETEDStudy on B-blockers to Prevent Decompensation of Cirrhosis With HTPortal
NCT01112852PHASE4COMPLETEDEVL (Endoscopic Variceal Ligation) Plus Vasoconstrictor vs.Ligation Plus PPI( Proton Pump Inhibitor) in the Control of Acute Esophageal Variceal Bleeding
NCT01893541PHASE4COMPLETEDPROPRANOLOL PLUS LIGATION REDUCES RECURRENCE OF ESOPHAGEAL VARICES?
NCT01970748PHASE4UNKNOWNPrimary Prevention of Patients With Hepatocellular Carcinoma and Concomitant Esophageal Varices
NCT02740166PHASE4UNKNOWNPreventing Recurrent Bleeding After Eradication of Esophageal Varices
NCT03624517PHASE4TERMINATEDComparison of 24-hours Versus 72-hours of Octreotide Infusion in Preventing Early Rebleed From Esophageal Varices
NCT03776955PHASE4UNKNOWNBeta-blockers for Oesophageal Varices
NCT04074473PHASE4UNKNOWNImpact of Nonselective Beta-blocker on Acute Kidney Injury in Cirrhotic Patients With Esophageal Varices
NCT05199038PHASE4UNKNOWNComparison of 2 Days Versus 5 Days of Octreotide After Endoscopic Therapy in Preventing Early Esophageal Varices Rebleed : A Randomized Controlled Study
NCT04499898PHASE2/PHASE3RECRUITINGCarvedilol Versus Endoscopic Band Ligation for Primary Prophylaxis of Oesophageal Variceal Bleeding
NCT00331188PHASE3COMPLETEDUse of Sanvar® With Endoscopic Treatment for the Control of Acute Variceal Bleeding
NCT00337740PHASE3TERMINATEDBanding Versus Propranolol for Primary Prophylaxis of Variceal Bleeding
NCT00409084PHASE3TERMINATEDBeta Blockers Versus Variceal Band Ligation and Beta Blockers for Primary Prophylaxis of Variceal Bleeding
NCT00911131PHASE3WITHDRAWNEnhancing Detection of Small Esophageal Varices by PillCam ESO
NCT01095185PHASE3COMPLETEDEfficacy of Statin Association With Standard Treatment in Prevention of Recurrent Hemorrhage in Patient With Cirrhosis and Variceal Bleeding
NCT01242280PHASE3COMPLETEDSelf-expandable Esophageal Stent Versus Balloon Tamponade in Refractory Esophageal Variceal Bleeding.
NCT01618890PHASE3UNKNOWNHepatic Venous Pressure Gradient-guided Versus Standard Beta-blocker Therapy in Primary Prevention of Variceal Bleeding
NCT02134626PHASE3COMPLETEDSimvastatin Effect on Portal Hypertension
NCT02853526PHASE3UNKNOWNTIPS for Variceal Rebleeding in Cirrhotic Patients With Occlusive Portal Vein Thrombosis and CTPV
NCT03388125PHASE3UNKNOWNEndoscopic Injection Sclerotherapy Versus N-butyl-2-cyanoacrylate Injection
NCT06819566PHASE2RECRUITINGProphylactic Endoscopic Variceal Ligation in Patients With High-risk Esophageal Varices Receiving Atezo/Bev for HCC
NCT01188733PHASE1/PHASE2COMPLETEDEfficacy of Long-acting Octreotide (Sandostatin LAR) in Reducing Portal Pressure in Patients With Cirrhosis
NCT01851252PHASE1COMPLETEDMBT Versus HVPG in Identifying Responders to Portal Hypertension Therapy
NCT05979935Not specifiedACTIVE_NOT_RECRUITINGA Digital Tongue Diagnosis Model for High- and Low-risk Esophagogastroduodenal Varices in Cirrhosis
NCT06881082Not specifiedRECRUITINGCross-section Band Ligation Versus Stepladder Band Ligation of Esophageal Varices
NCT06908798Not specifiedRECRUITINGFecal Calprotectin for Prediction of Esophageal Varices in Cirrhotic Patients
NCT06970509Not specifiedRECRUITINGImprove the Strategies of Endoscopic and Interventional Treatment of Gastroesophageal Hemorrhage in Portal Hypertension
NCT07122622Not specifiedRECRUITING2D-shear Wave Spleen Elastography in Clinically Significant Portal Hypertension and High-risk Varices
NCT07163689Not specifiedRECRUITINGTIPS for Complicated Portal Hypertension Related to Porto-Sinusoidal Vascular Disease
NCT07464522Not specifiedNOT_YET_RECRUITINGNon-invasive Predictors of Esophageal Varices and Their Correlation to Upper Endoscopic Findings
NCT07502729Not specifiedNOT_YET_RECRUITINGOptimizing Endoscopic and Interventional Treatment for Portal Hypertensive Bleeding
NCT07571876Not specifiedNOT_YET_RECRUITINGUltrasound Prediction of Esophageal Variceal Bleeding Risk
NCT07587671Not specifiedNOT_YET_RECRUITINGUnderdilated VCX-TIPS Versus EVL Plus NSBB for Secondary Prophylaxis of Variceal Bleeding in Cirrhosis
NCT00481416Not specifiedCOMPLETEDEvaluation of the PillCam™ESO Capsule in the Detection of Esophageal Varices
NCT00485290Not specifiedTERMINATEDEffect of Meal on Portal and Esophagus Variceal Pressure
NCT00587197Not specifiedCOMPLETEDA Prospective Evaluation of Computerized Tomographic(CT) Scanning as a Screening Modality for Esophageal Varices
NCT01079416Not specifiedCOMPLETEDStudy of Capsule Endoscopy to Determine the Accuracy for Detection of Esophageal Varices

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
PROPRANOLOL421
CARVEDILOL45
OCTREOTIDE42
TERLIPRESSIN42
PANTOPRAZOLE41
ENBUCRILATE31
SOMATOSTATIN31
DEXPROPRANOLOL27
(R)-Carvedilol05
CHEMBL335003702
SCEPTRIN01

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 23

This page pulls from 23 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpdoidefogenccgwasgwas_studyhgncicd10cmmedgenmeshmimmondomondochildmondoparentncitorphanetsctiduberonumls