Intestinal disorder
diseaseOn this page
Also known as disease of intestinedisease or disorder of intestinedisease, intestinaldiseases, intestinaldisorder of intestineintestinal diseaseintestine diseaseintestine disease or disorder
Summary
Intestinal disorder (MONDO:0005020) is a disease (an umbrella term covering 58 Mondo subtypes) with 66 GWAS associations across 58 studies and 85 clinical trials. Top therapeutic interventions include sugammadex, albendazole, and prucalopride. 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: 58 Mondo subtypes
- GWAS associations: 66
- Clinical trials: 85
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | intestinal disorder |
| Mondo ID | MONDO:0005020 |
| EFO | EFO:0009431 |
| MeSH | D007410 |
| DOID | DOID:5295 |
| NCIT | C26801 |
| SNOMED CT | 85919009 |
| UMLS | C0021831 |
| MedGen | 7130 |
| Anatomy (UBERON) | UBERON:0000160 |
| Is cancer (heuristic) | no |
Also known as: disease of intestine · disease or disorder of intestine · disease, intestinal · diseases, intestinal · disorder of intestine · intestinal disease · intestinal disorder · intestine disease · intestine disease or disorder
Data availability: 66 GWAS associations (58 studies).
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 › intestinal 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, 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, digestive system infectious disorder, upper digestive tract disorder, congenital peritoneal encapsulation
Subtypes (58): intestinal atresia, steatorrhea, angiodysplasia of intestine, endometriosis of intestine, hypertrophic pyloric stenosis, mucocele of appendix, gastroenteritis, diverticulitis, intestinal obstruction, postgastrectomy syndrome, chronic intestinal vascular insufficiency, bowel dysfunction, irritable bowel syndrome, Whipple disease, inflammatory bowel disease, intestinal polyp, necrotizing enterocolitis, intestinal perforation, neurogenic bowel, pneumatosis cystoides intestinalis, volvulus of midgut, abetalipoproteinemia, aplasia cutis congenita-intestinal lymphangiectasia syndrome, trichohepatoenteric syndrome, protein-losing enteropathy, chronic diarrhea with villous atrophy, Satoyoshi syndrome, glucose-galactose malabsorption, congenital diarrhea 7 with exudative enteropathy, chronic atrial and intestinal dysrhythmia, congenital enterocyte heparan sulfate deficiency, short bowel syndrome, intractable diarrhea-choanal atresia-eye anomalies syndrome, solitary rectal ulcer syndrome, NK-cell enteropathy, chronic intestinal failure, intestinal lymphangiectasia, refractory celiac disease, eosinophilic gastrointestinal disease, cryptogenic multifocal ulcerous stenosing enteritis, chronic enteropathy associated with SLCO2A1 gene, cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, malakoplakia, malabsorption syndrome, ischemic bowel disorder, intestinal neoplasm, intestinal motility disease, 4-hydroxyphenylacetic aciduria, parasitic intestinal disorder, Aeromonas hydrophila intestinal disease, large intestine disorder, small intestine disorder, primary desmosis coli, isolated mesenteric vein thrombosis, collagenous sprue, visceral leiomyopathy, African degenerative, intestinal dysmotility syndrome, intestinal fistula
Genetics & variants
GWAS landscape
66 GWAS associations across 58 studies. Top hits map to 0 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr20:62365646 | 9e-33 | A | 0.11 | |
| chr15:32710657 | 8e-29 | C | 0.11 | |
| chr18:48927311 | 1e-28 | AT | 0.08 | |
| chr8:116623363 | 4e-18 | G | 0.12 | |
| chr20:6401157 | 1e-17 | G | 0.07 | |
| chr6:55851362 | 8e-14 | T | 0.06 | |
| chr11:111290028 | 2e-13 | T | 0.06 | |
| chr5:135187287 | 2e-13 | A | 0.06 | |
| chr20:48723580 | 3e-13 | G | 0.06 | |
| chr7:102887070 | 3e-13 | A | 0.03 | |
| chr7:47472444 | 1e-12 | T | 0.06 | |
| chr1:22371954 | 9e-12 | G | 0.07 | |
| chr17:7668434 | 4e-11 | G | 0.22 | |
| chr16:80014383 | 1e-10 | G | 0.05 | |
| chr15:32712106 | 1e-10 | C | 0.03 | |
| chr6:32581893 | 2e-10 | T | 0.03 | |
| chr20:62399240 | 4e-10 | ATATTTTATTTTATTT | 0.03 | |
| chr8:127401060 | 7e-10 | T | 0.05 | |
| chr4:144737912 | 7e-10 | C | 0.08 | |
| chr15:67149659 | 8e-10 | C | 0.03 | |
| chr3:113198071 | 9e-10 | T | 0.05 | |
| chr19:38266675 | 9e-10 | C | 0.03 | |
| chr12:4283225 | 1e-09 | A | 0.05 | |
| chr9:133273813 | 1e-09 | T | 0.03 | |
| chr2:22545721 | 2e-09 | A | 0.03 | |
| chr4:79854270 | 2e-09 | T | 0.03 | |
| chr2:143539523 | 2e-09 | A | 0.03 | |
| chr3:40876378 | 3e-09 | T | 0.07 | |
| chr8:119412623 | 3e-09 | C | 0.03 | |
| chr4:173465642 | 3e-09 | G | 0.05 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473831 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 170,732 | 287,708 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473856 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 36,993 | 421,447 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473845 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 36,459 | 421,981 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90080274 | Backman JD | 2021 | 19,547 | 366,223 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084260 | Backman JD | 2021 | 19,547 | 366,223 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90080255 | Backman JD | 2021 | 18,263 | 359,286 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084241 | Backman JD | 2021 | 18,263 | 359,286 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90473834 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 10,464 | 447,976 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90478449 | Verma A | 2024 | 6,366 | 428,005 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436335 | Zhou W | 2018 | 4,528 | 334,783 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 49 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 49 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 49 |
| splice_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr20:62365646 | 9e-33 | Tier 4: intronic/intergenic | ||||||
| chr15:32710657 | 8e-29 | Tier 4: intronic/intergenic | ||||||
| chr18:48927311 | 1e-28 | Tier 4: intronic/intergenic | ||||||
| chr8:116623363 | 4e-18 | Tier 4: intronic/intergenic | ||||||
| chr20:6401157 | 1e-17 | Tier 4: intronic/intergenic | ||||||
| chr6:55851362 | 8e-14 | Tier 4: intronic/intergenic | ||||||
| chr11:111290028 | 2e-13 | Tier 4: intronic/intergenic | ||||||
| chr5:135187287 | 2e-13 | Tier 4: intronic/intergenic | ||||||
| chr20:48723580 | 3e-13 | Tier 4: intronic/intergenic | ||||||
| chr7:102887070 | 3e-13 | Tier 4: intronic/intergenic | ||||||
| chr7:47472444 | 1e-12 | Tier 4: intronic/intergenic | ||||||
| chr1:22371954 | 9e-12 | Tier 4: intronic/intergenic | ||||||
| chr17:7668434 | 4e-11 | Tier 4: intronic/intergenic | ||||||
| chr16:80014383 | 1e-10 | Tier 4: intronic/intergenic | ||||||
| chr15:32712106 | 1e-10 | Tier 4: intronic/intergenic | ||||||
| chr6:32581893 | 2e-10 | Tier 4: intronic/intergenic | ||||||
| chr20:62399240 | 4e-10 | Tier 4: intronic/intergenic | ||||||
| chr8:127401060 | 7e-10 | Tier 4: intronic/intergenic | ||||||
| chr4:144737912 | 7e-10 | Tier 4: intronic/intergenic | ||||||
| chr15:67149659 | 8e-10 | Tier 4: intronic/intergenic | ||||||
| chr3:113198071 | 9e-10 | Tier 4: intronic/intergenic | ||||||
| chr19:38266675 | 9e-10 | Tier 4: intronic/intergenic | ||||||
| chr12:4283225 | 1e-09 | Tier 4: intronic/intergenic | ||||||
| chr9:133273813 | 1e-09 | Tier 4: intronic/intergenic | ||||||
| chr2:22545721 | 2e-09 | Tier 4: intronic/intergenic | ||||||
| chr4:79854270 | 2e-09 | Tier 4: intronic/intergenic | ||||||
| chr2:143539523 | 2e-09 | Tier 4: intronic/intergenic | ||||||
| chr3:40876378 | 3e-09 | Tier 4: intronic/intergenic | ||||||
| chr8:119412623 | 3e-09 | Tier 4: intronic/intergenic | ||||||
| chr4:173465642 | 3e-09 | 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
0 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Anisodamine | Phase 3 (in late-stage trials) |
| Fish Oil | Phase 3 (in late-stage trials) |
| Icosapent | Phase 3 (in late-stage trials) |
| Soybean Oil | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Lactobacillus Acidophilus, Lanreotide.
Clinical trials & evidence
Clinical trials
Clinical trials: 85.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 54 |
| PHASE2 | 11 |
| PHASE4 | 7 |
| PHASE3 | 6 |
| PHASE1 | 4 |
| PHASE1/PHASE2 | 2 |
| PHASE2/PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06112353 | PHASE4 | RECRUITING | Neuromuscular Blockade Comparison for GI-2 Recovery After Bowel Resection |
| NCT06271538 | PHASE4 | RECRUITING | Evaluation of Efficacy of Skål Pro Powder on Symptoms of Irritable Bowel Syndrome |
| NCT01192802 | PHASE4 | COMPLETED | Efficacy of Albendazole to Treat Intestinal Helminths and Its Effect on Gut Microflora |
| NCT02806206 | PHASE4 | UNKNOWN | Prucalopride Prior to Small Bowel Capsule Endoscopy |
| NCT03723447 | PHASE4 | COMPLETED | Intraoperative TAP Block With Bupivacaine/Dexamethasone Against Liposomal Bupivacaine (Exparel®) |
| NCT05249335 | PHASE4 | UNKNOWN | Comparison for Efficacy and Safety of Bowel Preparation Between Oral Sulfate Table and 2L-polyethylene Glycol/Ascorbate in Elderly |
| NCT06872151 | PHASE4 | COMPLETED | Evaluation of the Effectiveness of a Topical Medical Device in Wound Healing and Symptom Relief in the Postoperative Period of Open Excisional Hemorrhoidectomy (The Emor Study) |
| NCT07114406 | PHASE3 | NOT_YET_RECRUITING | A Study to Evaluate Safety and Efficacy of PBK_M2502 |
| NCT07222800 | PHASE3 | RECRUITING | Symbiotic-GI-03: A Study to Learn About the Study Medicine Called PF-08634404 in Combination With Chemotherapy in Adult Participants With Metastatic Colorectal Cancer |
| NCT01929044 | PHASE3 | COMPLETED | Efficacy of Buscopan® in Comparison With 654-II (Anisodamine) in Acute Gastric or Intestinal Pain |
| NCT02044952 | PHASE2/PHASE3 | UNKNOWN | Efficacy and Safety Study of Tripterygium Glycoside in the Treatment of Crohn’s Disease for Induction Remission |
| NCT02550860 | PHASE3 | TERMINATED | Influence of Fish Oil Based Intravenous Fat Emulsions on the Epidermal Barrier Function |
| NCT03509220 | PHASE3 | COMPLETED | Safety and Efficacy of PBK-1701TC for Bowel Cleansing Before Colonoscopy |
| NCT05923918 | PHASE3 | UNKNOWN | A Study to Evaluate Safety and Efficacy of PBK_M2101 |
| NCT04755920 | PHASE2 | RECRUITING | SGM-101 in Colorectal Brain Metastases. |
| NCT00072943 | PHASE2 | COMPLETED | A Humanized Anti-Interferon-γ Monoclonal Antibody (HuZAF) for Moderate to Severe Crohn’s Disease |
| NCT01037049 | PHASE2 | UNKNOWN | Optimum Timing for Surgery After Pre-operative Radiotherapy 6 vs 12 Weeks |
| NCT01236833 | PHASE2 | UNKNOWN | Lactated Ringer’s Solution in Neonates With Feeding Intolerance |
| NCT01890837 | PHASE1/PHASE2 | COMPLETED | Effect of TU-100 in Patients With Irritable Bowel Syndrome (IBS) |
| NCT02647866 | PHASE2 | COMPLETED | Study of a Monoclonal Antibody KHK4083 in Moderate Ulcerative Colitis |
| NCT03012594 | PHASE2 | COMPLETED | Lanreotide in the Treatment of Small Bowel Motility Disorders |
| NCT03037385 | PHASE1/PHASE2 | COMPLETED | Phase 1/2 Study of the Highly-selective RET Inhibitor, Pralsetinib (BLU-667), in Participants With Thyroid Cancer, Non-Small Cell Lung Cancer, and Other Advanced Solid Tumors |
| NCT03280407 | PHASE2 | UNKNOWN | NEOadjuvant Chemotherapy Only Compared With Standard Treatment for Locally Advanced Rectal Cancer |
| NCT03559543 | PHASE2 | COMPLETED | Evaluation of Ocoxin®-Viusid® in Metastatic Colorectal Adenocarcinoma |
| NCT03644069 | PHASE2 | UNKNOWN | A Study of the Safety, Efficacy and Tolerability of Nexvax-2 in Patients With Celiac Disease (CeD) |
| NCT04080843 | PHASE2 | COMPLETED | Anlotinib Hydrochloride Capsules Combined With CAPEOX in RAS and BRAF Wild-type mCRC Patients |
| NCT04644315 | PHASE2 | TERMINATED | A Home-Based Approach Study to Evaluate the Efficacy and Safety of Alectinib in Locally-Advanced or Metastatic ALK-Positive Solid Tumors |
| NCT03408470 | PHASE1 | COMPLETED | TD-1473 Absorption, Distribution, Metabolism and Excretion (ADME) Study in Healthy Male Subjects |
| NCT03543540 | PHASE1 | COMPLETED | Bioequivalence Study of Nexvax2 in Subjects With Celiac Disease |
| NCT04587713 | PHASE1 | COMPLETED | Single Dose Bioavailability and Ethnobridging PK Study in Healthy Subjects |
| NCT06201559 | PHASE1 | COMPLETED | Bioequivalence Study Between Two Albendazole 400 mg Tablets in Healthy Adult Participants Under Fed Conditions |
| NCT03256266 | Not specified | ACTIVE_NOT_RECRUITING | Effect of Antigens or Therapeutic Agents on in Vitro Human Intestinal Organoids |
| NCT04187820 | Not specified | RECRUITING | Effect of Acupuncture on Mild to Moderate Active Crohn’s Disease |
| NCT04949282 | Not specified | RECRUITING | Spanish Series of Patients Treated With the Radionuclide Lutetium177 |
| NCT05209568 | Not specified | RECRUITING | Immune Responses to Gluten |
| NCT05551052 | Not specified | ACTIVE_NOT_RECRUITING | CRC Detection Reliable Assessment With Blood |
| NCT06026449 | Not specified | ACTIVE_NOT_RECRUITING | Gluten-free Diet in PSC and IBD |
| NCT06178302 | Not specified | NOT_YET_RECRUITING | DEscripitive Patient Analysis to Enable Risk-based Quality Improvement Measures in a lArge iNternal mediCIne grouP Practice |
| NCT06681129 | Not specified | RECRUITING | Study of Normal Intestinal Development and Disease in Premature and Term Neonates |
| NCT06845527 | Not specified | RECRUITING | Outcomes of Outpatients in an Gut Microbiota Clinic |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SUGAMMADEX | 4 | 3 |
| ALBENDAZOLE | 4 | 2 |
| PRUCALOPRIDE | 4 | 2 |
| ALECTINIB | 4 | 1 |
| BUPIVACAINE | 4 | 1 |
| EPINEPHRINE | 4 | 1 |
| HYALURONIC ACID | 4 | 1 |
| LANREOTIDE | 4 | 1 |
| MESALAMINE | 4 | 1 |
| PRALSETINIB | 4 | 1 |
| SULFADIAZINE, SILVER | 4 | 1 |
| CATEQUENTINIB HYDROCHLORIDE | 3 | 1 |
| ROCATINLIMAB | 3 | 1 |
| IZENCITINIB | 2 | 1 |
| RACEPINEPHRINE | 2 | 1 |
| ORANGE JUICE | 1 | 1 |
| CHEMBL5412674 | 0 | 1 |
| CHEMBL4297597 | 0 | 1 |
| CHEMBL5572229 | 0 | 1 |