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 |
|
|
|