multisystemic smooth muscle dysfunction syndrome
A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease.
MONDO:0003847
hereditary disease
is_a
MONDO:0005385
vascular disorder
is_a
MONDO:0021189
intestinal motility disease
is_a
ACTA2-related smooth muscle dysfunction syndrome
exact
congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy
related
multisystemic smooth muscle dysfunction syndrome
exact
SPBC32H8.12c