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GTR Home > Conditions/Phenotypes > Multisystemic smooth muscle dysfunction syndrome

Multisystemic smooth muscle dysfunction syndrome

Synonyms
MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY; SMOOTH MUSCLE DYSFUNCTION SYNDROME
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

Smooth muscle dysfunction syndrome (SMDYS) 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). [from OMIM]

Available tests

58 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTSA, SMDYS, ACTA2
    Summary: actin alpha 2, smooth muscle

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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