Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disorder caused by R179 missense mutations in the ACTA2 gene. Initially described as a case report in 1999, it was characterized in 2010 as a syndrome of congenital mydriasis, patent ductus arteriosus, and aneurysmal arterial disease—in particular aortic and thoracic aneurysms. The disorder has variable penetrance, ranging from severely symptomatic and fatal in early neonatal period to a more benign and manageable course with surgical intervention.
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| - Multisystemische Dysfunktion der glatten Muskeln (de)
- Multisystemic smooth muscle dysfunction syndrome (en)
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| - Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disorder caused by R179 missense mutations in the ACTA2 gene. Initially described as a case report in 1999, it was characterized in 2010 as a syndrome of congenital mydriasis, patent ductus arteriosus, and aneurysmal arterial disease—in particular aortic and thoracic aneurysms. The disorder has variable penetrance, ranging from severely symptomatic and fatal in early neonatal period to a more benign and manageable course with surgical intervention. (en)
- Die Multisystemische Dysfunktion der glatten Muskeln (MSMDS) ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen weitgestellte Pupillen (Mydriasis), Herzfehler (Persistierender Ductus arteriosus), Aussackung der Hauptschlagader in der Brust (Thorakales Aortenaneurysma) und weiteren Gefässerkrankungen (Vaskulopathie). Synonyme sind: MSMD-Syndrom; MSMDS; englisch Multisystemic smooth muscle dysfunction syndrome; Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy (de)
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| - Congenital mydriasis (en)
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| - Die Multisystemische Dysfunktion der glatten Muskeln (MSMDS) ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen weitgestellte Pupillen (Mydriasis), Herzfehler (Persistierender Ductus arteriosus), Aussackung der Hauptschlagader in der Brust (Thorakales Aortenaneurysma) und weiteren Gefässerkrankungen (Vaskulopathie). Synonyme sind: MSMD-Syndrom; MSMDS; englisch Multisystemic smooth muscle dysfunction syndrome; Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy Die Erstbeschreibung stammt aus dem Jahre 1999 durch die australische Humangenetikerin Leslie C. Adès und Mitarbeiter, die Charakterisierung als Syndrom erfolgte im Jahre 2010 durch die US-amerikanische Ärztin Dianna M. Milewicz und Mitarbeiter. (de)
- Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disorder caused by R179 missense mutations in the ACTA2 gene. Initially described as a case report in 1999, it was characterized in 2010 as a syndrome of congenital mydriasis, patent ductus arteriosus, and aneurysmal arterial disease—in particular aortic and thoracic aneurysms. The disorder has variable penetrance, ranging from severely symptomatic and fatal in early neonatal period to a more benign and manageable course with surgical intervention. (en)
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