Disease association ontology term - MONDO:0013452 - multisystemic smooth muscle dysfunction syndrome
Term summary
- ID
- MONDO:0013452
- Name
- multisystemic smooth muscle dysfunction syndrome
- Ontology or CV name
- Disease association
- Definition
- 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.
