Uhl anomaly

Summary

Uhl anomaly (MONDO:0018084) is a disease. A subtype of cardiomyopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 16

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		84	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated
Prevalence at birth	1-9 / 100 000	1	Worldwide	Not yet validated

Signs & symptoms

Clinical features (HPO)

16 HPO clinical features (Orphanet curated; top 16 by frequency):

HPO ID	Term	Frequency
HP:0031316	Abnormal ventricular myocardium morphology	Very frequent (80-99%)
HP:0001635	Congestive heart failure	Frequent (30-79%)
HP:0001640	Cardiomegaly	Frequent (30-79%)
HP:0001698	Pericardial effusion	Frequent (30-79%)
HP:0001708	Right ventricular failure	Frequent (30-79%)
HP:0005180	Tricuspid regurgitation	Frequent (30-79%)
HP:0033138	Right atrial thrombus	Frequent (30-79%)
HP:0034330	Regional right ventricular hypokinesis	Frequent (30-79%)
HP:6000667	Right ventricular aneurysm	Frequent (30-79%)
HP:0001279	Syncope	Occasional (5-29%)
HP:0001649	Tachycardia	Occasional (5-29%)
HP:0001789	Hydrops fetalis	Occasional (5-29%)
HP:0002202	Pleural effusion	Occasional (5-29%)
HP:0010882	Pulmonary valve atresia	Occasional (5-29%)
HP:0011675	Arrhythmia	Occasional (5-29%)
HP:0034364	Fibrofatty replacement of right ventricular myocardium	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Uhl anomaly
Mondo ID	MONDO:0018084
MeSH	C536932
Orphanet	3403
ICD-11	240652322
UMLS	C0265857
MedGen	78576
GARD	0005393
MedDRA	10048951
Is cancer (heuristic)	no

Also known as: parchment right ventricle · Uhl’s anomaly

Disease family

This is a subtype of cardiomyopathy. 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 › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › Uhl anomaly

Related subtypes (11): Keshan disease, intrinsic cardiomyopathy, extrinsic cardiomyopathy, idiopathic cardiomyopathy, familial cardiomyopathy, non-compaction cardiomyopathy, Chagas cardiomyopathy, Tako-tsubo cardiomyopathy, cardiomyopathy due to anthracyclines, doxorubicin induced cardiomyopathy, autoimmune cardiomyopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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.