Aorto-ventricular tunnel

Summary

Aorto-ventricular tunnel (MONDO:0018082) is a disease. A subtype of congenital anomaly of the great arteries — 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): 8

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		130	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0011627	Aorto-ventricular tunnel	Obligate (100%)
HP:0001714	Ventricular hypertrophy	Very frequent (80-99%)
HP:0001635	Congestive heart failure	Frequent (30-79%)
HP:0001654	Abnormal heart valve morphology	Frequent (30-79%)
HP:0001679	Abnormal aortic morphology	Frequent (30-79%)
HP:0002616	Aortic root aneurysm	Frequent (30-79%)
HP:0006704	Abnormal coronary artery morphology	Frequent (30-79%)
HP:0030148	Heart murmur	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	aorto-ventricular tunnel
Mondo ID	MONDO:0018082
MeSH	D000082903
Orphanet	3400
ICD-11	470594532
UMLS	C4023262
MedGen	868852
GARD	0018798
Is cancer (heuristic)	no

Also known as: aorto-ventricular tunnel · aorto-ventricular tunnel (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of congenital anomaly of the great arteries. 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 › congenital anomaly of cardiovascular system › congenital heart malformation › congenital anomaly of the great arteries › aorto-ventricular tunnel

Related subtypes (14): aortic arch interruption, aortic arch defects, idiopathic pulmonary artery dilatation, scimitar syndrome, fixed subaortic stenosis, congenital pulmonary veins atresia or stenosis, congenital pulmonary valve stenosis, aneurysm or dilatation of ascending aorta, premature closure of the arterial duct, absence of the pulmonary artery, congenital patent ductus arteriosus aneurysm, pulmonary artery hypoplasia, pulmonary branch stenosis, primary pulmonary vein stenosis

Subtypes (2): aorto-right ventricular tunnel, aorto-left ventricular tunnel

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.