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Multisystemic smooth muscle dysfunction syndrome

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Description

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. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018). See also familial thoracic aortic aneurysm (AAT6; 611788) and moyamoya disease-5 (MYMY5; 614042), which can also be caused by ACTA2 mutation.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

34

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Genes

External Links

  • OMIM

    613834

  • Orphanet

    404463

  • HPO
  • Medgen

    C3151201

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