Gastrointestinal neuromuscular disorders
Gene: ACTA2
Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.
More than 40 unrelated individuals reported, missense at p.Arg179 position.
Sources: Expert ReviewCreated: 30 Jul 2021, 8:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multisystemic smooth muscle dysfunction syndrome, MIM# 613834
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ACTA2 were changed from Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 to Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Gene: acta2 has been classified as Green List (High Evidence).
gene: ACTA2 was added gene: ACTA2 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA2 were set to 20734336; 29300374 Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 Review for gene: ACTA2 was set to GREEN gene: ACTA2 was marked as current diagnostic