Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 GeneticVariation disease BEFREE The same characteristic Gillespie syndrome-like iris, with aplasia of the pupillary sphincter and a scalloped margin, is seen in ACTA2-related multisystemic smooth muscle dysfunction syndrome. 30242502 2019
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 Biomarker disease BEFREE We describe a neonatal patient with fixed dilated pupils and pulmonary, bladder, and bowel dysfunction suspicious for the presence of ACTA2 R179 mediated multisystemic smooth muscle dysfunction syndrome. 29575632 2018
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 Biomarker disease BEFREE Key Messages: ACTA2 cerebral arteriopathy is a recently described novel cerebrovascular disease seen in patients with MSMDS. 30300893 2018
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 GeneticVariation disease BEFREE Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. 28328125 2017
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 GeneticVariation disease BEFREE Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. 27567161 2017
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 GeneticVariation disease BEFREE Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome. 29202781 2017
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 Biomarker disease GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179 2016
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 Biomarker disease BEFREE Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 24621862 2014
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 CausalMutation disease CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479 2013
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 GeneticVariation disease BEFREE A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth. 22790431 2012
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 CausalMutation disease CLINVAR A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 22831780 2012
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 CausalMutation disease CLINVAR Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 22946110 2012
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 CausalMutation disease CLINVAR R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747 2012
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 CausalMutation disease CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 CausalMutation disease CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 GermlineCausalMutation disease ORPHANET De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 GeneticVariation disease UNIPROT De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 Biomarker disease GENOMICS_ENGLAND Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
0.780 Biomarker disease GENOMICS_ENGLAND