aneurysm of sinus of Valsalva

Summary

aneurysm of sinus of Valsalva (MONDO:0015197) is a disease. A subtype of aortic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 11

Clinical features

Signs & symptoms

Clinical features (HPO)

11 HPO clinical features (Orphanet curated; top 11 by frequency):

HPO ID	Term	Frequency
HP:0011645	Dilatation of the sinus of Valsalva	Obligate (100%)
HP:0001659	Aortic regurgitation	Frequent (30-79%)
HP:0002094	Dyspnea	Frequent (30-79%)
HP:0030148	Heart murmur	Frequent (30-79%)
HP:0000969	Edema	Occasional (5-29%)
HP:0001635	Congestive heart failure	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0001297	Stroke	Very rare (<1-4%)
HP:0006689	Bacterial endocarditis	Very rare (<1-4%)
HP:0100520	Oliguria	Very rare (<1-4%)
HP:0100749	Chest pain	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	aneurysm of sinus of Valsalva
Mondo ID	MONDO:0015197
Orphanet	1054
ICD-11	364348641
SNOMED CT	54160000
UMLS	C2239253
MedGen	853730
GARD	0000670
Anatomy (UBERON)	UBERON:0003707
Is cancer (heuristic)	no

Also known as: sinus of Valsalva aneurysm · SVA

Disease family

This is a subtype of aortic 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 › vascular disorder › arterial disorder › aortic disorder › aneurysm of sinus of Valsalva

Related subtypes (16): aortic atherosclerosis, aorta atresia, renal artery disease, superior mesenteric artery syndrome, aortic valve disorder, aortic malignant tumor, aortic aneurysm, tricuspid valve stenosis, aortitis, tricuspid valve prolapse, aorta coarctation, subaortic stenosis, membranous, neoplasm of aortic body, Leriche syndrome, X-linked severe syndromic thoracic aortic aneurysm and dissection, fibromuscular dysplasia of the renal arteries

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.