Chronic intestinal vascular insufficiency

Summary

Chronic intestinal vascular insufficiency (MONDO:0004622) is a disease with 3 GWAS associations across 6 studies and 8 clinical trials. Top therapeutic interventions include sodium butyrate. A subtype of intestinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 3
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	chronic intestinal vascular insufficiency
Mondo ID	MONDO:0004622
DOID	DOID:8633
SNOMED CT	111354009
UMLS	C0311262
MedGen	90228
Anatomy (UBERON)	UBERON:0000160
Is cancer (heuristic)	no

Also known as: chronic mesenteric ischemia

Data availability: 3 GWAS associations (6 studies).

Disease family

This is a subtype of intestinal 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 › chronic intestinal vascular insufficiency

Related subtypes (57): intestinal atresia, steatorrhea, angiodysplasia of intestine, endometriosis of intestine, hypertrophic pyloric stenosis, mucocele of appendix, gastroenteritis, diverticulitis, intestinal obstruction, postgastrectomy syndrome, 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

3 GWAS associations across 6 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
rs189896688	1e-13	HAFML	C	2.96
rs576147219	9e-12	RN7SL714P - LINC02914	G	3.52
rs192906579	2e-11	C2orf80	C	2.46

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478013	Verma A	2024	1,537	447,835	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482028	Verma A	2024	626	449,778	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436151	Zhou W	2018	576	400,595	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90436152	Zhou W	2018	264	400,595	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90480201	Verma A	2024	259	121,240	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482027	Verma A	2024	259	121,240	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	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	3

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs189896688	4	176672673	C>G,T	0	intron_variant	HAFML	1e-13	Tier 4: intronic/intergenic
rs576147219	14	98478129	G>A	0	intergenic_variant	RN7SL714P - LINC02914	9e-12	Tier 4: intronic/intergenic
rs192906579	2	208180404	C>T	0	intron_variant	C2orf80	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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02914912	Not specified	ACTIVE_NOT_RECRUITING	Investigation of Chronic Intestinal Ischemia
NCT05735002	Not specified	RECRUITING	Promoting Early Diagnosis of Chronic Mesenteric Ischemia
NCT06468774	Not specified	RECRUITING	Intestinal Ischemia Biomarker in Patients With Chronic Mesenteric Ischemia
NCT06913530	Not specified	NOT_YET_RECRUITING	European Multicentre Study of Long-term Results Following Visceral Arteries Revascularization: the E-VisAR Study
NCT07059520	Not specified	RECRUITING	Translesional PRESSURE Measurements to Assess Clinical Relevance of a Mesenteric Artery Stenosis (PRESSURE-study)
NCT07182669	Not specified	NOT_YET_RECRUITING	Blood Flow and Oxygenation in the Portal Vein in Subjects With Chronic Narrowing of the Blood Vessels to the Gut
NCT03586739	Not specified	COMPLETED	Evaluation of Covered Stents Versus Bare Metal Stents for Endovascular Treatment of Chronic Ischemia Mesenteric Disease.
NCT06022588	Not specified	COMPLETED	Chronic Mesenteric Ischemia Breath Testing

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SODIUM BUTYRATE	2	1