Pericardium disorder

Summary

Pericardium disorder (MONDO:0000474) is a disease with 1 GWAS associations across 7 studies. A subtype of heart disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pericardium disorder
Mondo ID	MONDO:0000474
DOID	DOID:0050829
SNOMED CT	55855009
UMLS	C0265122
MedGen	539093
Anatomy (UBERON)	UBERON:0002407
Is cancer (heuristic)	no

Also known as: disease of pericardium · disease or disorder of pericardium · disorder of pericardium · pericardium disease · pericardium disease or disorder

Data availability: 1 GWAS association (7 studies).

Disease family

This is a subtype of heart 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 › cardiovascular disorder › heart disorder › pericardium disorder

Related subtypes (33): endocardium disorder, cardiac tuberculosis, heart conduction disease, hypertensive heart disease, heart valve disorder, cardiomyopathy, coronary artery disorder, heart failure, congenital heart disease, heart aneurysm, rheumatic heart disease, cardiac rhythm disease, white forelock with malformations, atrioventricular defect-blepharophimosis-radial and anal defect syndrome, microcephaly-cardiac defect-lung malsegmentation syndrome, PHACE syndrome, microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type, cardiac anomalies-heterotaxy syndrome, polyvalvular heart disease syndrome, Thomas syndrome, 22q11.2 deletion syndrome, myocardial rupture, heart neoplasm, aortopulmonary window, cor biloculare, inflammation of heart layer, myocardial disorder, carcinoid heart disease, omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome, coronary microvascular disorder, cardiac ventricle disorder, cardiogenetic disease, cardiogenic shock

Subtypes (3): pericardial effusion, pericarditis, neoplasm of pericardium

Genetics & variants

GWAS landscape

1 GWAS associations across 7 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs147927030	2e-07	LRRC3B - NEK10	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473555	UK Biobank Whole-Genome Sequencing Consortium	2025	3,657	454,783	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90079990	Backman JD	2021	1,596	386,216	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083976	Backman JD	2021	1,596	386,216	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90079989	Backman JD	2021	578	387,309	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083975	Backman JD	2021	578	387,309	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651946	Liu TY	2025	405	235,604	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90726902	Kim HI	2026	235	43,791	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

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	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs147927030	3	27056473	A>G		intron_variant	LRRC3B - NEK10	2e-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: 0.