X-linked severe syndromic thoracic aortic aneurysm and dissection

Summary

X-linked severe syndromic thoracic aortic aneurysm and dissection (MONDO:0850095) 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: <1 / 1 000 000 (Worldwide) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		32	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	X-linked severe syndromic thoracic aortic aneurysm and dissection
Mondo ID	MONDO:0850095
Orphanet	622925
GARD	0022490
Is cancer (heuristic)	no

Data availability: 1 cell line.

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 › X-linked severe syndromic thoracic aortic aneurysm and dissection

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, aneurysm of sinus of Valsalva, neoplasm of aortic body, Leriche syndrome, 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.