Enteritis
diseaseOn this page
Also known as Enteritidesenteritis of small intestineinflammation of small intestinesmall intestine inflammation
Summary
Enteritis (MONDO:0043579) is a disease with 24 GWAS associations across 11 studies and 9 clinical trials. Top therapeutic interventions include rebamipide and eupatilin. A subtype of gastroenteritis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 24
- Clinical trials: 9
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | enteritis |
| Mondo ID | MONDO:0043579 |
| MeSH | D004751 |
| NCIT | C26765 |
| SNOMED CT | 64613007 |
| UMLS | C0014335 |
| MedGen | 4964 |
| Is cancer (heuristic) | no |
Also known as: Enteritides · enteritis · enteritis of small intestine · inflammation of small intestine · small intestine inflammation
Data availability: 24 GWAS associations (11 studies).
Disease family
This is a subtype of gastroenteritis. 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 › intestinal disorder › gastroenteritis › enteritis
Related subtypes (8): inflammatory diarrhea, intestinal infectious disease, intestinal tuberculosis, colitis, appendicitis, campylobacteriosis, Salmonella gastroenteritis, eosinophilic gastroenteritis
Subtypes (3): Meckel diverticulitis, duodenitis, small bowel Crohn disease
Genetics & variants
GWAS landscape
24 GWAS associations across 11 studies. Top hits map to 15 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs115378818 | 3e-37 | TSBP1, TSBP1-AS1 | C | 0.95 |
| rs11805303 | 9e-27 | IL23R, C1orf141 | C | 0.25 |
| rs146528649 | 8e-18 | NKD1 | G | 0.65 |
| rs148844907 | 6e-17 | C6orf47-AS1, C6orf47 | T | 0.75 |
| rs1992660 | 1e-14 | RNU1-150P - TTC33 | C | 0.18 |
| chr5:40410935 | 9e-14 | G | 0.19 | |
| rs111978729 | 1e-13 | CEACAM20 | G | 3.25 |
| rs562720172 | 4e-13 | RNU7-134P - CCDC182 | G | 2.41 |
| rs150335499 | 6e-13 | MAPK14 | G | 1.68 |
| rs76872831 | 2e-12 | SMIM3 | A | 0.29 |
| rs946573151 | 7e-12 | SUB1 - LINC02061 | A | 3.88 |
| rs369013158 | 1e-11 | NMT1 | G | 4.21 |
| rs540193863 | 1e-11 | MTHFD2P1 - HNRNPKP4 | C | 2.91 |
| rs1004955853 | 1e-11 | CSMD1 | T | 2.62 |
| chr5:150252365 | 2e-11 | G | 0.27 | |
| rs530666849 | 2e-11 | ACOT8 | T | 3.38 |
| rs191293575 | 2e-11 | DHX35 - LINC01734 | A | 3.26 |
| rs77300819 | 3e-11 | LINC02468 - PDE3A-AS1 | G | 2.74 |
| rs181533722 | 4e-11 | SDK2 | C | 2.69 |
| rs143854110 | 3e-07 | LINC00882 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90476066 | Verma A | 2024 | 3,402 | 446,631 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436336 | Zhou W | 2018 | 1,743 | 334,783 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477016 | Verma A | 2024 | 1,327 | 442,946 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90041705 | Jiang L | 2021 | 1,066 | 455,282 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90435512 | Zhou W | 2018 | 862 | 399,970 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90478391 | Verma A | 2024 | 567 | 121,083 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480317 | Verma A | 2024 | 567 | 121,083 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652034 | Liu TY | 2025 | 484 | 223,378 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90479742 | Verma A | 2024 | 466 | 118,792 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481422 | Verma A | 2024 | 466 | 118,792 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 18 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 5 |
| low_freq (0.01-0.05) | 2 |
| rare (<0.01) | 12 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 9 |
| intergenic_variant | 5 |
| non_coding_transcript_exon_variant | 2 |
| unknown | 2 |
| 5_prime_UTR_variant | 1 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs115378818 | 6 | 32333650 | C>T | 0.011 | intron_variant | TSBP1, TSBP1-AS1 | 3e-37 | Tier 4: intronic/intergenic |
| rs11805303 | 1 | 67209833 | C>A,T | 0.29 | intron_variant | IL23R, C1orf141 | 9e-27 | Tier 4: intronic/intergenic |
| rs146528649 | 16 | 50627053 | G>T | 0.02 | intron_variant | NKD1 | 8e-18 | Tier 4: intronic/intergenic |
| rs148844907 | 6 | 31660620 | T>A | 0.009 | 5_prime_UTR_variant | C6orf47-AS1, C6orf47 | 6e-17 | Tier 2: splice/UTR |
| rs1992660 | 5 | 40414965 | C>A,G,T | 0.406 | non_coding_transcript_exon_variant | RNU1-150P - TTC33 | 1e-14 | Tier 4: intronic/intergenic |
| chr5:40410935 | 0.395 | 9e-14 | Tier 4: intronic/intergenic | |||||
| rs111978729 | 19 | 44511853 | G>A | 0.001 | intron_variant | CEACAM20 | 1e-13 | Tier 4: intronic/intergenic |
| rs562720172 | 17 | 57688981 | G>A | 0.001 | intergenic_variant | RNU7-134P - CCDC182 | 4e-13 | Tier 4: intronic/intergenic |
| rs150335499 | 6 | 36033221 | G>A | 0.002 | intron_variant | MAPK14 | 6e-13 | Tier 4: intronic/intergenic |
| rs76872831 | 5 | 150791997 | A>G | 0.084 | intron_variant | SMIM3 | 2e-12 | Tier 4: intronic/intergenic |
| rs946573151 | 5 | 32611549 | A>G | 0 | intergenic_variant | SUB1 - LINC02061 | 7e-12 | Tier 4: intronic/intergenic |
| rs369013158 | 17 | 44982585 | G>A | 0 | non_coding_transcript_exon_variant | NMT1 | 1e-11 | Tier 4: intronic/intergenic |
| rs540193863 | 3 | 95743350 | C>T | 0 | intergenic_variant | MTHFD2P1 - HNRNPKP4 | 1e-11 | Tier 4: intronic/intergenic |
| rs1004955853 | 8 | 3197243 | T>C,G | 0 | intron_variant | CSMD1 | 1e-11 | Tier 4: intronic/intergenic |
| chr5:150252365 | 0.083 | 2e-11 | Tier 4: intronic/intergenic | |||||
| rs530666849 | 20 | 45847978 | T>A,C | 0 | intron_variant | ACOT8 | 2e-11 | Tier 4: intronic/intergenic |
| rs191293575 | 20 | 39128496 | A>G | 0.001 | intergenic_variant | DHX35 - LINC01734 | 2e-11 | Tier 4: intronic/intergenic |
| rs77300819 | 12 | 20300712 | G>A | 0 | intergenic_variant | LINC02468 - PDE3A-AS1 | 3e-11 | Tier 4: intronic/intergenic |
| rs181533722 | 17 | 73393682 | C>A,G,T | 0 | missense_variant | SDK2 | 4e-11 | Tier 1: coding |
| rs143854110 | 3 | 106688587 | A>G | intron_variant | LINC00882 | 3e-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
1 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Cortisone Acetate | Approved (phase 4) |
| Pentosan Polysulfate Sodium | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Sapropterin.
Clinical trials & evidence
Clinical trials
Clinical trials: 9.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
| PHASE4 | 2 |
| PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00463190 | PHASE4 | COMPLETED | Effect of Probiotics (Bio-Three) in Children’s Enterocolitis |
| NCT04885751 | PHASE4 | UNKNOWN | Compare the Effect of Eupatilin and Rebamipide on the Prevention of Gastroenteropathy |
| NCT00444093 | PHASE3 | TERMINATED | Prospective Randomized Open Label Study of the Treatment of Therapy-associated Diarrhea During Percutaneous Radiation Therapy of the Small Pelvis. - Comparison of Loperamide and Tincture of Opium - |
| NCT01073384 | PHASE1/PHASE2 | COMPLETED | A Dose Ranging Study of Delayed Release Beclomethasone for Prevention of Acute Enteritis in Patients With Rectal Cancer |
| NCT00267475 | Not specified | COMPLETED | Data Bank for Eosinophilic Disorders |
| NCT00816842 | Not specified | COMPLETED | Plasma Citrulline Concentration in Tropical Enteropathy |
| NCT01065324 | Not specified | UNKNOWN | Balloon-assisted Enteroscopy and Bacteria |
| NCT02639416 | Not specified | COMPLETED | Hypoallergenic and Anti-inflammatory Feeds in Malawian Children With Severe Acute Malnutrition (SAM) |
| NCT03444675 | Not specified | UNKNOWN | The Endoscopic Assesment of Intestinal Grafts |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| REBAMIPIDE | 3 | 1 |
| CHEMBL1703336 | 0 | 1 |
| EUPATILIN | -1 | 1 |
Related Atlas pages
- Drugs: Rebamipide