Digestive system infectious disorder
diseaseOn this page
Also known as digestive system infectiongastrointestinal infectiongastrointestinal system infection
Summary
Digestive system infectious disorder (MONDO:0043424) is a disease (an umbrella term covering 22 Mondo subtypes) with 20 GWAS associations across 1 studies and 22 clinical trials. Top therapeutic interventions include cephalexin anhydrous, doxycycline anhydrous, and levofloxacin anhydrous. A subtype of digestive system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 22 Mondo subtypes
- GWAS associations: 20
- Clinical trials: 22
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | digestive system infectious disorder |
| Mondo ID | MONDO:0043424 |
| NCIT | C35503 |
| SNOMED CT | 715852004 |
| Anatomy (UBERON) | UBERON:0005409 |
| Is cancer (heuristic) | no |
Also known as: digestive system infection · gastrointestinal infection · gastrointestinal system infection
Data availability: 20 GWAS associations (1 study).
Disease family
This is a subtype of digestive system 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 › digestive system infectious disorder
Related subtypes (30): benign digestive system neoplasm, autoimmune disorder of gastrointestinal tract, gastrointestinal mucositis, diarrheal disease, pancreas disorder, hepatobiliary disorder, digestive system cancer, peptic ulcer disease, stomach disorder, intestinal disorder, Meckel diverticulum, Cronkhite-Canada syndrome, diverticulosis, small-intestinal, diverticulosis of bowel, hernia, and retinal detachment, congenital enteropathy due to enteropeptidase deficiency, hereditary mixed polyposis syndrome, caudal duplication, Moyamoya disease with early-onset achalasia, hyperplastic polyposis syndrome, thoraco-abdominal enteric duplication, digestive duplication, juvenile polyposis syndrome, umbilical cord ulceration-intestinal atresia syndrome, growth retardation-mild developmental delay-chronic hepatitis syndrome, common mesentery, neoplasm of oropharynx, gastrointestinal polyp, digestive system neuroendocrine neoplasm, upper digestive tract disorder, congenital peritoneal encapsulation
Subtypes (22): oropharyngeal anthrax, polycystic echinococcosis, intestinal infectious disease, fungal esophagitis, bacterial esophagitis, viral gastritis, bacterial gastritis, fungal gastritis, viral esophagitis, anal verrucous carcinoma, Whipple disease, campylobacteriosis, gastrointestinal tuberculosis, Salmonella gastroenteritis, viral hepatitis, infectious colitis, parasitic intestinal disorder, internal hirudiniasis, Aeromonas hydrophila intestinal disease, colorectal Kaposi sarcoma, small intestinal bacterial overgrowth, liver abscess (disease)
Genetics & variants
GWAS landscape
20 GWAS associations across 1 studies. Top hits map to 13 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs635634 | 3e-08 | ABO - Y_RNA | T | 1.13 |
| rs41302673 | 5e-07 | STKLD1 | G | 1.17 |
| rs115249766 | 1e-06 | RBMS3 | C | 1.49 |
| rs369614251 | 2e-06 | CD96 | C | 1.15 |
| rs3010256 | 2e-06 | TNPO1-DT | T | 1.34 |
| rs117347473 | 2e-06 | LINC02402 | A | 1.26 |
| rs1866164 | 2e-06 | PPIAP16 - FLNB | T | 1.35 |
| rs143538360 | 4e-06 | LINC01911 - RNU6-692P | C | 1.55 |
| rs7112253 | 4e-06 | CNTN5 | A | 1.12 |
| rs12517727 | 4e-06 | LINC02997 | A | 1.16 |
| rs75887387 | 5e-06 | BUD13P1 - LNCRNA-IUR | G | 1.12 |
| rs35439759 | 5e-06 | LUC7L3 | CTT | 1.09 |
| rs3793102 | 6e-06 | ATXN1 | A | 1.09 |
| rs7183231 | 7e-06 | TYRO3 | C | 1.09 |
| rs376479926 | 7e-06 | LINC02748 - LINC02756 | C | 1.49 |
| rs11995244 | 7e-06 | MFHAS1 | T | 1.37 |
| chr3:188240857 | 8e-06 | G | 1.44 | |
| rs3825165 | 8e-06 | ITPR2-AS2, ITPR2 | T | 1.16 |
| rs1652362 | 9e-06 | NPC1 - ANKRD29 | T | 1.19 |
| chr2:207883727 | 9e-06 | G | 1.32 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST010008 | Nudel R | 2020 | 7,197 | 37,062 | A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness. |
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) | 14 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 6 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 10 |
| intergenic_variant | 6 |
| unknown | 2 |
| missense_variant | 1 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs635634 | 9 | 133279427 | T>A,C | 0.05 | intergenic_variant | ABO - Y_RNA | 3e-08 | Tier 4: intronic/intergenic |
| rs41302673 | 9 | 133405414 | T>G | 0.05 | missense_variant | STKLD1 | 5e-07 | Tier 1: coding |
| rs115249766 | 3 | 28650645 | T>C | intron_variant | RBMS3 | 1e-06 | Tier 4: intronic/intergenic | |
| rs369614251 | 3 | 111561865 | intron_variant | CD96 | 2e-06 | Tier 4: intronic/intergenic | ||
| rs3010256 | 5 | 72682599 | T>C | 0.05 | intron_variant | TNPO1-DT | 2e-06 | Tier 4: intronic/intergenic |
| rs117347473 | 12 | 42624720 | C>A,T | 0.05 | intron_variant | LINC02402 | 2e-06 | Tier 4: intronic/intergenic |
| rs1866164 | 3 | 57985796 | C>T | 0.05 | intergenic_variant | PPIAP16 - FLNB | 2e-06 | Tier 4: intronic/intergenic |
| rs143538360 | 2 | 147162376 | T>C | intergenic_variant | LINC01911 - RNU6-692P | 4e-06 | Tier 4: intronic/intergenic | |
| rs7112253 | 11 | 100065492 | A>G | 0.05 | intron_variant | CNTN5 | 4e-06 | Tier 4: intronic/intergenic |
| rs12517727 | 5 | 67720940 | G>A | 0.05 | intron_variant | LINC02997 | 4e-06 | Tier 4: intronic/intergenic |
| rs75887387 | 11 | 95146961 | G>T | 0.05 | intergenic_variant | BUD13P1 - LNCRNA-IUR | 5e-06 | Tier 4: intronic/intergenic |
| rs35439759 | 17 | 50726160 | C>CTT | 0.05 | intron_variant | LUC7L3 | 5e-06 | Tier 4: intronic/intergenic |
| rs3793102 | 6 | 16680847 | A>C,G,T | 0.05 | intron_variant | ATXN1 | 6e-06 | Tier 4: intronic/intergenic |
| rs7183231 | 15 | 41583162 | A>C,G,T | 0.05 | 3_prime_UTR_variant | TYRO3 | 7e-06 | Tier 2: splice/UTR |
| rs376479926 | 11 | 91380674 | A>C,G | intergenic_variant | LINC02748 - LINC02756 | 7e-06 | Tier 4: intronic/intergenic | |
| rs11995244 | 8 | 8832883 | G>A,C,T | 0.05 | intron_variant | MFHAS1 | 7e-06 | Tier 4: intronic/intergenic |
| chr3:188240857 | 8e-06 | Tier 4: intronic/intergenic | ||||||
| rs3825165 | 12 | 26402797 | T>A,C | 0.05 | intron_variant | ITPR2-AS2, ITPR2 | 8e-06 | Tier 4: intronic/intergenic |
| rs1652362 | 18 | 23596806 | T>C | 0.05 | intergenic_variant | NPC1 - ANKRD29 | 9e-06 | Tier 4: intronic/intergenic |
| chr2:207883727 | 9e-06 | 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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 22.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 16 |
| PHASE3 | 3 |
| PHASE4 | 2 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01782118 | PHASE4 | UNKNOWN | LGG for Prevention of Infectious Complications During PPI Treatment in Children |
| NCT05977868 | PHASE4 | TERMINATED | Comparing Oral Versus Parenteral Antimicrobial Therapy |
| NCT06560255 | PHASE3 | RECRUITING | Fish Oil in pREgnancY for Personalized Prevention of Early Childhood Asthma |
| NCT06570889 | PHASE3 | RECRUITING | VItamin D in pregnanCy for prevenTion Of eaRlY Childhood Asthma |
| NCT01909128 | PHASE3 | COMPLETED | Fermented Milk and Fermented Rice on the Appearance of Respiratory and Gastrointestinal Symptoms |
| NCT04501380 | PHASE2 | UNKNOWN | Efficacy of AEMCOLO (Rifamycin SV MMX) in the Treatment of Small Intestinal Bacterial Overgrowth (SIBO) |
| NCT04826991 | Not specified | ACTIVE_NOT_RECRUITING | Wells and Enteric Disease Transmission |
| NCT01304914 | Not specified | COMPLETED | Observational Research in Childhood Infectious Diseases Study |
| NCT02032056 | Not specified | TERMINATED | Effect of Probiotics in Reducing Infections and Allergies in Young Children During the Complementary Feeding Period |
| NCT02131727 | Not specified | COMPLETED | Hand Hygiene Randomized Cluster Intervention to Reduce Infections |
| NCT02180581 | Not specified | COMPLETED | Effect of Probiotics in Reducing Infections and Allergies in Young Children Starting Daycare |
| NCT02729870 | Not specified | WITHDRAWN | Oral Glucose Intervention for Children With Gastroenteritis and Ketosis |
| NCT03299283 | Not specified | UNKNOWN | Specimen Collection and Transport Workflow Evaluations for CLIA-waived Molecular Testing |
| NCT03342547 | Not specified | UNKNOWN | Identification of Host Factors of Norovirus Infections in Mini-Gut Model |
| NCT03454009 | Not specified | COMPLETED | Kent State University / Price Chopper Employee Wellness Study |
| NCT04239521 | Not specified | COMPLETED | The Epidemiology, Management, and the Associated Burden of Related Conditions in Alopecia Areata |
| NCT04258059 | Not specified | COMPLETED | Wells and Enteric Disease Transmission Trial (WET - Trial) |
| NCT04803435 | Not specified | UNKNOWN | Telemedicine and Face-to-face Consultations Diagnostic Accuracy Comparison in Gastrointestinal Infection Patients |
| NCT05051358 | Not specified | UNKNOWN | Therapeutic Endoscopic Ultrasound for Gastrointestinal Disorders: A Multicenter Registry Study |
| NCT05322655 | Not specified | COMPLETED | PAthogen Transmission and Health Outcome Models of Enteric Disease |
| NCT05484102 | Not specified | COMPLETED | Preventive Effect of Cow’s Milk Fermented With Lactobacillus Paracasei CBA L74 on Common Infectious Diseases in Children |
| NCT06745414 | Not specified | COMPLETED | Clinical Performance of QIAstat-Dx® Gastrointestinal Panel 2 |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CEPHALEXIN ANHYDROUS | 4 | 3 |
| DOXYCYCLINE ANHYDROUS | 4 | 3 |
| LEVOFLOXACIN ANHYDROUS | 4 | 2 |
| AMOXICILLIN | 4 | 1 |
| AMPICILLIN | 4 | 1 |
| CEFADROXIL | 4 | 1 |
| CEFAZOLIN | 4 | 1 |
| CEFEPIME | 4 | 1 |
| CEFPODOXIME | 4 | 1 |
| CEFPODOXIME PROXETIL | 4 | 1 |
| CEFTAROLINE FOSAMIL | 4 | 1 |
| CEFTAZIDIME | 4 | 1 |
| CIPROFLOXACIN | 4 | 1 |
| DALBAVANCIN | 4 | 1 |
| DAPTOMYCIN | 4 | 1 |
| DELAFLOXACIN | 4 | 1 |
| ERTAPENEM | 4 | 1 |
| LINEZOLID | 4 | 1 |
| OFLOXACIN | 4 | 1 |
| OLIVE OIL | 4 | 1 |
| CEFTAROLINE | 3 | 1 |
| CHEMBL1555813 | 0 | 1 |
| CHEMBL1649722 | 0 | 1 |
| CHEMBL388266 | 0 | 1 |
| CHEMBL4286784 | 0 | 1 |
| CHEMBL4740200 | 0 | 1 |
| CHEMBL4744444 | 0 | 1 |
| CHEMBL4778239 | 0 | 1 |
| CHEMBL4785392 | 0 | 1 |
| CHEMBL6174705 | 0 | 1 |