multisystemic smooth muscle dysfunction syndrome

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multisystemic smooth muscle dysfunction syndrome2016-11-27T12:22:29+00:00

multisystemic smooth muscle dysfunction syndrome

MOLECULAR MEDICINE, NEUROLOGY 

An über rare autosomal dominant condition (OMIM:613834) characterised by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the GI tract and pulmonary hypertension.

Molecular pathology Defects of ACTA2, which encodes an alpha 2 actin, cause MSMDYS. 

Synonyms MSMDYS, mydriasis—congenital—with patent ductus arteriosus—thoracic aortic aneurysm—and vasculopathy

References http://www.uniprot.org/uniprot/P62736

http://www.omim.org/entry/613834

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