Duodenitis

Summary

Duodenitis (MONDO:0004627) is a disease with 12 GWAS associations across 14 studies and 2 clinical trials. A subtype of duodenal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 12
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	duodenitis
Mondo ID	MONDO:0004627
MeSH	D004382
DOID	DOID:8643
ICD-10-CM	K29.8
ICD-11	1595026136
NCIT	C94409
SNOMED CT	72007001
UMLS	C0013298
MedGen	4419
Is cancer (heuristic)	no

Also known as: duodenitis · duodenum inflammation · hemorrhagic duodenitis · inflammation of duodenum

Data availability: 12 GWAS associations (14 studies).

Disease family

This is a subtype of duodenal 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 › small intestine disorder › duodenal disorder › duodenitis

Related subtypes (5): duodenal obstruction, duodenal ulcer, biliary dyskinesia, duodenogastric reflux, tumor of duodenum

Subtypes (3): gastroduodenal Crohn disease, gastroduodenitis, hemorrhagic duodenitis

Genetics & variants

GWAS landscape

12 GWAS associations across 14 studies. Top hits map to 6 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs552149410	1e-12	PAM16, CORO7-PAM16	G	2.38
rs529554850	1e-12	TRERNA1 - UBE2V1	C	1.82
rs566950676	9e-12	TBX19	C	3.08
rs182263790	1e-11	HPRT1P2 - RPL19P11	G	2.69
rs530684220	1e-11	LINC01419 - TPM3P3	A	4.07
rs147399943	3e-11	TBC1D2 - GABBR2	T	3.34
chr6:32644257	3e-10		T	0.04
rs9274362	4e-10	HLA-DQB1	?	0.95
rs11887534	1e-09	ABCG8	?	1.11
rs112614158	2e-08	LINC02416	?	1.11
chr12:85421591	3e-08		C	1.9
chr1:153897033	4e-08		C	1.09

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90432137	Jiang Y	2023	116,382	213,325	A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders.
GCST90473787	UK Biobank Whole-Genome Sequencing Consortium	2025	59,353	399,087	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667941	UK Biobank Whole-Genome Sequencing Consortium	2025	59,353	399,087	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080207	Backman JD	2021	9,283	378,647	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084193	Backman JD	2021	9,283	378,647	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90436320	Zhou W	2018	7,655	378,124	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90478353	Verma A	2024	2,115	441,450	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473788	UK Biobank Whole-Genome Sequencing Consortium	2025	1,616	7,997	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473784	UK Biobank Whole-Genome Sequencing Consortium	2025	1,153	8,062	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90478352	Verma A	2024	602	119,390	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	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	11

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	6
unknown	3

Functional consequences

Consequence	Count
intron_variant	4
unknown	3
non_coding_transcript_exon_variant	2
intergenic_variant	2
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs552149410	16	4347198	G>A	0.001	non_coding_transcript_exon_variant	PAM16, CORO7-PAM16	1e-12	Tier 4: intronic/intergenic
rs529554850	20	50053225	C>T	0.002	non_coding_transcript_exon_variant	TRERNA1 - UBE2V1	1e-12	Tier 4: intronic/intergenic
rs566950676	1	168295063	C>T	0.002	intron_variant	TBX19	9e-12	Tier 4: intronic/intergenic
rs182263790	5	30963053	G>A	0	intron_variant	HPRT1P2 - RPL19P11	1e-11	Tier 4: intronic/intergenic
rs530684220	8	83609844	A>G	0	intergenic_variant	LINC01419 - TPM3P3	1e-11	Tier 4: intronic/intergenic
rs147399943	9	98279261	T>C,G	0.001	intergenic_variant	TBC1D2 - GABBR2	3e-11	Tier 4: intronic/intergenic
chr6:32644257							3e-10	Tier 4: intronic/intergenic
rs9274362	6	32664709	T>A,C	0.05	intron_variant	HLA-DQB1	4e-10	Tier 4: intronic/intergenic
rs11887534	2	43839108	G>A,C	0.05	missense_variant	ABCG8	1e-09	Tier 1: coding
rs112614158	12	47357406	C>A,T	0.05	intron_variant	LINC02416	2e-08	Tier 4: intronic/intergenic
chr12:85421591							3e-08	Tier 4: intronic/intergenic
chr1:153897033							4e-08	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, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Lirentelimab	Phase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00124501	Not specified	COMPLETED	Effectiveness of Biofeedback-Assisted Relaxation Training in Children With Eosinophilic Duodenitis
NCT00852150	Not specified	COMPLETED	Is a Reporting System for Gastritis or Duodenitis (Modified Lanza Scale) Reproducible?