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Atlas / Disease / Hiatus hernia

Hiatus hernia

disease
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Also known as hiatal herniahiatus hernia (disease)

Summary

Hiatus hernia (MONDO:0007721) is a disease with 1 cohort gene and 50 clinical trials. Top therapeutic interventions include bupivacaine hydrochloride and polyglactin 370.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 1
  • Clinical trials: 50

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namehiatus hernia
Mondo IDMONDO:0007721
MeSHD006551
OMIM142400
DOIDDOID:12642
NCITC98945
SNOMED CT84089009
UMLSC3489393
MedGen483347
Is cancer (heuristic)no

Also known as: hiatal hernia · hiatus hernia · hiatus hernia (disease)

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › stomach disorder › hiatus hernia

Related subtypes (18): gastric ulcer, functional gastric disease, Dieulafoy lesion, pylorospasm, cascade stomach, pyloric stenosis, gastric dilatation, stomach diverticulosis, gastritis, gastroesophageal reflux disease, stomach polyp, non-hypoproteinemic hypertrophic gastropathy, gastric neoplasm, angiodysplasia of stomach, achlorhydria, gastric intestinal metaplasia, gastric duplication, pyloric duplication

Subtypes (1): displacement of cardia through esophageal hiatus

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 likely pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
873324Single alleleBARX1Likely pathogeniccriteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
BARX1HGNC:955ENSG00000131668Q9HBU1Homeobox protein BarH-like 1clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
BARX1Homeobox protein BarH-like 1Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Transcription factor18.3×0.121

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
BARX1Transcription factornoHTH_motif, HD, Homeodomain-like_sf

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
body of stomach1
mucosa of stomach1
stomach1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
BARX1100tissue_specificyesmucosa of stomach, body of stomach, stomach

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
BARX11,068

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
BARX1Q9HBU11

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
digestive system development13370.4×0.002BARX1
endothelial cell differentiation11123.5×0.004BARX1
spleen development1401.2×0.006BARX1
negative regulation of Wnt signaling pathway1343.9×0.006BARX1
anterior/posterior pattern specification1181.2×0.009BARX1
Wnt signaling pathway199.7×0.013BARX1
cell-cell signaling169.6×0.016BARX1
regulation of transcription by RNA polymerase II111.7×0.086BARX1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
BARX100

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug1BARX1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
BARX10—

Clinical trials & evidence

Clinical trials

Clinical trials: 50.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified46
PHASE43
PHASE2/PHASE31

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00872755PHASE4COMPLETEDNissen and Gastroplasty in Gastroesophageal Reflux Disease (GERD)
NCT02242526PHASE4UNKNOWNBiologic Versus Synthetic Mesh for Treatment of Paraesophageal Hernia
NCT04936711PHASE4UNKNOWNPain Relief After Hiatal Hernia Repair Surgery
NCT02328248PHASE2/PHASE3UNKNOWNUsage of Biological Patch Versus Plastic in the Laparoscopic Repair of Hiatal Hernias
NCT00260585Not specifiedRECRUITINGEsophageal Cancer Risk Registry
NCT04450628Not specifiedACTIVE_NOT_RECRUITINGEsophagogastric Junction Distensibility During Hiatal Hernia Repair
NCT04591860Not specifiedNOT_YET_RECRUITINGA Prospective Randomised Multi - Center Trial on the Repair of Large Hiatal Hernias: Absorbable Mesh vs. Pledgeted Sutures vs. Sutures Only
NCT04795934Not specifiedACTIVE_NOT_RECRUITINGMulticenter Single-Blind RCT of CTIF Versus LNF For Treatment of GERD in Patients Requiring Hiatal Hernia Repair
NCT05201508Not specifiedRECRUITINGSutures Versus Polyglactin Mesh in Hiatal Hernia Repair
NCT06444347Not specifiedRECRUITINGImpact of Biosynthetic Mesh on Paraesophageal Hernia Repair
NCT06725433Not specifiedRECRUITINGNissen Versus Dor Hiatal Hernia Repair
NCT06835790Not specifiedNOT_YET_RECRUITINGComparative 3-year Study of Nissen-sleeve vs. Sleeve Plus Cruroplasty in Obese Patients With Hiatal Hernia
NCT07070115Not specifiedRECRUITINGEvaluating Clinical Hiatal Hernia Outcomes Using OviTex®
NCT07251010Not specifiedNOT_YET_RECRUITINGPhrenoesophageal Ligament Reconstruction With Mesh
NCT07267494Not specifiedNOT_YET_RECRUITINGImage-Guided Herniorrhaphy Study
NCT00155805Not specifiedUNKNOWNImmunologic Factors in Reflux Esophagitis and Barrett’s Esophagus
NCT00287612Not specifiedCOMPLETEDNecessity of Esophageal Dissection During Laparoscopic Fundoplication
NCT00507377Not specifiedCOMPLETEDForeshortened Esophagus and Its Surgical Therapy
NCT00786084Not specifiedUNKNOWNStudy of Paraesophageal Hernia Repair With Small Intestine Submucosa
NCT01099033Not specifiedCOMPLETEDThe Biologic Basis of Hernia Formation
NCT01110811Not specifiedCOMPLETEDTransoral Incisionless Fundoplication (TIF) Versus Sham for Treatment of Gastroesophageal Reflux Disease (GERD)
NCT01118585Not specifiedCOMPLETEDTransoral Incisionless Fundoplication (TIF) Registry Study for Treatment of Gastroesophageal Reflux Disease (GERD)
NCT01136980Not specifiedCOMPLETEDRandomized EsophyX Versus Sham / Placebo Controlled TIF Trial: The RESPECT Study
NCT01195545Not specifiedCOMPLETEDVeritas Laparoscopic Paraesophageal Hiatal Hernia (PEH) Repair Pilot Trial
NCT01243229Not specifiedCOMPLETEDGenetic Analysis of Congenital Diaphragmatic Disorders
NCT01678157Not specifiedCOMPLETEDUse of Strattice Mesh in Paraesophageal Hernia Surgery
NCT01776827Not specifiedCOMPLETEDLong-term Outcome of Laparoscopic Hiatal Hernia Repair With or Without Alloderm Mesh at a University Hospital
NCT02397616Not specifiedCOMPLETEDEffects of Position and a Test Meal on Esophago-gastric Junction Morphology and Function Assessed by High-resolution Impedance Manometry (HRM)
NCT02436681Not specifiedCOMPLETEDMiromatrix Biological Mesh for Hiatal Hernia Repair
NCT02923362Not specifiedUNKNOWNRegistry of Outcomes From AntiReflux Surgery
NCT03730233Not specifiedCOMPLETEDHiatal Hernia Repair by Tension-free Mesh Closure or Simple Suturing
NCT03776669Not specifiedUNKNOWNLaparoscopic Sleeve Gastrectomy With or Without Hiatal Hernia Repair in Morbidly Obese Patients
NCT04152798Not specifiedCOMPLETEDApproach to Hiatal Hernia Repair Based on Collagen Study
NCT04282720Not specifiedCOMPLETEDSurgiMend Mesh at the Hiatus
NCT04695171Not specifiedTERMINATEDLINX Reflux Management System or Fundoplication Clinical Study in Patients With Hiatal Hernia >3 cm
NCT04716166Not specifiedCOMPLETEDIncentive Spirometry and Upper Abdominal Laparoscopic Surgery
NCT05069493Not specifiedCOMPLETEDLong-term Follow-up After Hiatal Hernia Repair by Tension-free Mesh Closure or Simple Suturing
NCT05710913Not specifiedUNKNOWNDevelopment of Machine Learning Models for the Prediction of BMI and Complications After Bariatric Surgery (CABS-Study)
NCT05716022Not specifiedCOMPLETEDHiatal Hernia and Pulmonary Involvement
NCT05953428Not specifiedCOMPLETEDReducing Postoperative Opioids in Patients Undergoing Laparoscopic Hiatal Hernia

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BUPIVACAINE HYDROCHLORIDE41
POLYGLACTIN 370-11

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 65

This page pulls from 65 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot