Chronic pulmonary heart disease

Summary

Chronic pulmonary heart disease (MONDO:0001493) is a disease with 2 GWAS associations across 6 studies and 4 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: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	chronic pulmonary heart disease
Mondo ID	MONDO:0001493
DOID	DOID:12326
NCIT	C34478
SNOMED CT	87837008
UMLS	C0238074
MedGen	116042
Is cancer (heuristic)	no

Also known as: Cor pulmonale

Data availability: 2 GWAS associations (6 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 › chronic pulmonary heart disease

Related subtypes (1): acute cor pulmonale

Subtypes (2): kyphoscoliotic heart disease, idiopathic pulmonary arterial hypertension

Genetics & variants

GWAS landscape

2 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
rs964943276	5e-15	NRXN1-DT	T	1.84
rs566015137	7e-08	LINC01640	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477878	Verma A	2024	11,655	427,349	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477877	Verma A	2024	3,527	115,145	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480140	Verma A	2024	3,527	115,145	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477876	Verma A	2024	908	57,929	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436084	Zhou W	2018	590	402,375	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651782	Liu TY	2025	572	233,745	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs964943276	2	51590932	T>C	0.001	intron_variant	NRXN1-DT	5e-15	Tier 4: intronic/intergenic
rs566015137	22	33085352	A>C,G		intron_variant	LINC01640	7e-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

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

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00834145	Not specified	UNKNOWN	Effect of Normatec Pump for Relief of Leg Edema in Patients With Right Heart Failure
NCT01554774	Not specified	COMPLETED	Non-invasive Assessment of Pulmonary Vascular Resistance in Elderly Patients With Chronic Obstructive Pulmonary Disease
NCT02976324	Not specified	COMPLETED	The Effect of External Diaphragmatic Pacemaker on the Patients With Chronic Cor Pulmonale
NCT03243994	Not specified	COMPLETED	Small Intestinal Absorption in Patients With Chronic Obstructive Pulmonary Disease and Cor Pulmonale