Microscopic colitis

disease
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Summary

Microscopic colitis (MONDO:0000702) is a disease with 26 GWAS associations across 3 studies and 16 clinical trials. Top therapeutic interventions include budesonide, mesalamine, and rifaximin. A subtype of colitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • GWAS associations: 26
  • Clinical trials: 16

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namemicroscopic colitis
Mondo IDMONDO:0000702
EFOEFO:1001295
MeSHD046728
Orphanet58220
DOIDDOID:0060182
ICD-10-CMK52.83
ICD-111122828822
NCITC38504
SNOMED CT235753003
UMLSC0400821
MedGen98005
Is cancer (heuristic)no

Data availability: 26 GWAS associations (3 studies).

Disease family

This is a subtype of colitis. 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 disorderintestinal disordergastroenteritiscolitismicroscopic colitis

Related subtypes (8): ischemic colitis, chemical colitis, diversion colitis, ulcerative colitis, ileocolitis, indeterminate colitis, infectious colitis, proctocolitis

Subtypes (3): collagenous colitis, lymphocytic colitis, eosinophilic colitis

Genetics & variants

GWAS landscape

26 GWAS associations across 3 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs92674454e-39MICB - PPIAP9C1.8
rs350990842e-08CLEC16AC1.3
chr6:313553183e-08?0
chr6:1060007909e-08?0
chr4:1084781913e-07?0
chr15:647687003e-07?0
chr13:547039073e-07?0
chr8:125175255e-07?0
chr17:65714396e-07?0
chr4:243383241e-06?0
chr7:255732041e-06?0
chr16:261170391e-06?0
chr1:1023008291e-06?0
chr7:473913212e-06?0
chr11:1058585862e-06?0
chr6:653507923e-06?0
chr11:119311833e-06?0
chr20:23744553e-06?0
chr2:442115464e-06?0
chr5:242562264e-06?0
chr2:290029005e-06?0
chr5:62224905e-06?0
chr14:418041886e-06?0
chr1:2118520067e-06?0
chr3:215805568e-06?0
chr6:1040037048e-06?0

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90204144Zheng T20232,599552,343HLA signatures as pathophysiological discriminants of microscopic colitis subtypes.
GCST009081Green HD2019423445,232Genome-wide association study of microscopic colitis in the UK Biobank confirms immune-related pathogenesis.
GCST009080Green HD20199846,397Genome-wide association study of microscopic colitis in the UK Biobank confirms immune-related pathogenesis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic26

MAF distribution

BucketVariants
common (>=0.05)2
low_freq (0.01-0.05)0
rare (<0.01)0
unknown24

Functional consequences

ConsequenceCount
unknown24
intergenic_variant1
intron_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs9267445631515704G>C0.12intergenic_variantMICB - PPIAP94e-39Tier 4: intronic/intergenic
rs350990841611095760C>G,T0.192intron_variantCLEC16A2e-08Tier 4: intronic/intergenic
chr6:313553183e-08Tier 4: intronic/intergenic
chr6:1060007909e-08Tier 4: intronic/intergenic
chr4:1084781913e-07Tier 4: intronic/intergenic
chr15:647687003e-07Tier 4: intronic/intergenic
chr13:547039073e-07Tier 4: intronic/intergenic
chr8:125175255e-07Tier 4: intronic/intergenic
chr17:65714396e-07Tier 4: intronic/intergenic
chr4:243383241e-06Tier 4: intronic/intergenic
chr7:255732041e-06Tier 4: intronic/intergenic
chr16:261170391e-06Tier 4: intronic/intergenic
chr1:1023008291e-06Tier 4: intronic/intergenic
chr7:473913212e-06Tier 4: intronic/intergenic
chr11:1058585862e-06Tier 4: intronic/intergenic
chr6:653507923e-06Tier 4: intronic/intergenic
chr11:119311833e-06Tier 4: intronic/intergenic
chr20:23744553e-06Tier 4: intronic/intergenic
chr2:442115464e-06Tier 4: intronic/intergenic
chr5:242562264e-06Tier 4: intronic/intergenic
chr2:290029005e-06Tier 4: intronic/intergenic
chr5:62224905e-06Tier 4: intronic/intergenic
chr14:418041886e-06Tier 4: intronic/intergenic
chr1:2118520067e-06Tier 4: intronic/intergenic
chr3:215805568e-06Tier 4: intronic/intergenic
chr6:1040037048e-06Tier 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, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
BudesonidePhase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 16.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified10
PHASE23
PHASE31
PHASE2/PHASE31
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00180050PHASE3COMPLETEDBudesonide Treatment for Lymphocytic Colitis
NCT00952952PHASE2/PHASE3COMPLETEDTrial of Mesalamine for the Treatment of Active Microscopic Colitis
NCT04043897PHASE2RECRUITINGEfficacy and Safety of Oral Rifaximin in Patients With Active Microscopic Colitis
NCT05915104PHASE2NOT_YET_RECRUITINGEfficacy and Safety of Budesonide MMX® vs. Budesonide CR for Induction of Remission in Microscopic Colitis
NCT07156175PHASE2RECRUITINGA Study to Investigate the Efficacy and Safety of SAR444336 in Adults With Microscopic Colitis in Clinical Remission
NCT05998174EARLY_PHASE1UNKNOWNFaecal Microbiota Transplantation for Microscopic Colitis
NCT06530836Not specifiedACTIVE_NOT_RECRUITINGChronic Diarrhea Owing to Underlying Microscopic Colitis
NCT06657001Not specifiedENROLLING_BY_INVITATIONEnabling Microbiomics- Driven Personalized Nutrition
NCT01928667Not specifiedCOMPLETEDCase-Control Study to Identify Risk Factors for Microscopic Colitis
NCT02303132Not specifiedCOMPLETEDUssing Experiments to Evaluate the Role of Medication-induced Microscopic Colitis
NCT03275467Not specifiedCOMPLETEDFaecal Microbiota Transplantation in Patients With Microscopic Colitis
NCT03477032Not specifiedUNKNOWNFMT in Inflammatory Bowel Disease
NCT05058131Not specifiedUNKNOWNModulation of Intestinal Barrier Function and Inflammation Via Butyrate-promoting Dietary Fibre
NCT05579444Not specifiedTERMINATEDSystems Biology of Gastrointestinal and Related Diseases
NCT06031064Not specifiedUNKNOWNExternal Validation of a Microscopic Colitis Clinical Scoring System in Patients With Chronic Watery Diarrhoea
NCT06172647Not specifiedUNKNOWNMucosa Adherent Intestinal Microbiome in Microscopic Colitis and Colorectal Cancer

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BUDESONIDE42
MESALAMINE41
RIFAXIMIN41
CHEMBL24946601