Disease: Multisystemic Smooth Muscle Dysfunction Syndrome

Name Multisystemic Smooth Muscle Dysfunction Syndrome

Synonyms MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY

Classification circulatory, gastroenterological, genetic, neurological, surgical thoracic, urogenital

Phenotypes Autosomal dominant inheritance; Cryptorchidism; Dilatation of the cerebral artery; Hyperperistalsis; Hypertension; Intestinal malrotation; Mydriasis; Patent ductus arteriosus; Periventricular white matter hyperdensities; Pulmonary arterial hypertension; Retinal infarction; Tachypnea; Thoracic aortic aneurysm

Associated Genes ACTA2 (Withdrawn symbols: ACTSA )

Mouse Orthologs Acta2 (Withdrawn symbols: 0610041G09Rik, Actvs )

Source OMIM:613834 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter