Collagenous colitis

Summary

Collagenous colitis (MONDO:0000703) is a disease with 2 GWAS associations across 2 studies and 6 clinical trials. Top therapeutic interventions include budesonide, mesalamine, and rifaximin. A subtype of microscopic colitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 2
• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	collagenous colitis
Mondo ID	MONDO:0000703
EFO	EFO:1001293
MeSH	D046729
Orphanet	36205
DOID	DOID:0060183
ICD-10-CM	K52.831
ICD-11	1322041450
NCIT	C27021
SNOMED CT	19311003
UMLS	C0238067
MedGen	65945
MedDRA	10048928
Is cancer (heuristic)	no

Data availability: 2 GWAS associations (2 studies).

Disease family

This is a subtype of microscopic 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 disorder › intestinal disorder › gastroenteritis › colitis › microscopic colitis › collagenous colitis

Related subtypes (2): lymphocytic colitis, eosinophilic colitis

Genetics & variants

GWAS landscape

2 GWAS associations across 2 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2844531	2e-32	MICA-AS1	G	2
rs2187668	2e-11	HLA-DQA1	?	2.06

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90204145	Zheng T	2023	1,498	13,487	HLA signatures as pathophysiological discriminants of microscopic colitis subtypes.
GCST005879	Westerlind H	2015	247	0	Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	2

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2844531	6	31385394	A>G	0.119	intron_variant	MICA-AS1	2e-32	Tier 4: intronic/intergenic
rs2187668	6	32638107	C>A,G,T	0.126	intron_variant	HLA-DQA1	2e-11	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, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Budesonide	Phase 3 (in late-stage trials)
Mesalamine	Phase 3 (in late-stage trials)
Rifaximin	Phase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	4
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00139165	PHASE3	UNKNOWN	Long-Term Treatment of Collagenous Colitis With Budesonide
NCT00180076	PHASE3	COMPLETED	Budesonide for Maintenance Treatment of Collagenous Colitis
NCT00450086	PHASE3	COMPLETED	Budesonide Capsules vs. Mesalazine Granules vs. Placebo in Collagenous Colitis
NCT03658993	PHASE3	UNKNOWN	Rifaximin-treatment of Collagenous Colitis
NCT01504048	Not specified	UNKNOWN	Usefulness of Chromoendoscopy in Diagnosing Microscopic Colitis
NCT01928667	Not specified	COMPLETED	Case-Control Study to Identify Risk Factors for Microscopic Colitis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BUDESONIDE	4	3
MESALAMINE	4	1
RIFAXIMIN	4	1
CHEMBL249466	0	2