Acute cor pulmonale

Summary

Acute cor pulmonale (MONDO:0004598) is a disease with 2 GWAS associations across 2 studies and 5 clinical trials. A subtype of cor pulmonale — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 2
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	acute cor pulmonale
Mondo ID	MONDO:0004598
DOID	DOID:8514, DOID:8517
SNOMED CT	49584005, 67189007
UMLS	C0155671
MedGen	510041
Is cancer (heuristic)	no

Also known as: acute pulmonary heart disease · cor pulmonale, acute

Data availability: 2 GWAS associations (2 studies).

Disease family

This is a subtype of cor pulmonale. 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 › cardiovascular disorder › heart disorder › heart failure › congestive heart failure › cor pulmonale › acute cor pulmonale

Related subtypes (1): chronic pulmonary heart disease

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
rs1220069967	5e-13	ABO	?	0.73
rs140244554	1e-07	RANBP9	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90651910	Liu TY	2025	469	233,745	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90837506	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.

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)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1220069967	9	133270638	AT>A	0.05	intron_variant	ABO	5e-13	Tier 4: intronic/intergenic
rs140244554	6	13670614	G>A,C		intron_variant	RANBP9	1e-07	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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02027129	PHASE1	COMPLETED	Physiological Study of Low-frequency HFO/HFO-TGI and High-frequency HFO
NCT01757522	Not specified	COMPLETED	Detection of Right Ventricular Dysfunction by 2D Strain During Acute Respiratory Distress Syndrom (ARDS)
NCT03827863	Not specified	UNKNOWN	Acute CorPulmonale and ARDS Circulation Protection China Study China (ACPC)
NCT04628195	Not specified	COMPLETED	Cardiac Performance in Mechanically Ventilated COVID-19 Patients
NCT05629832	Not specified	COMPLETED	Transpulmonary Pressure in Right Ventricle Protection of ARDS