{"orpha":404463,"name":"Multisystemic smooth muscle dysfunction syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404463/","orphanet_url":"https://www.orpha.net/en/disease/detail/404463","names":{"fr":{"name":"Syndrome multisystémique de dysfonctionnement des muscles lisses","definition":"Maladie vasculaire rare d'origine génétique caractérisée par un dysfonctionnement congénital des muscles lisses dans tout l'organisme, se manifestant par une maladie cérébrovasculaire, des anomalies aortiques, un hypopéristaltisme intestinal, une vessie hypotonique et une hypertension pulmonaire. Une mydriase congénitale associée à un canal artériel persistant et de grande taille sont les signes caractéristiques de la maladie."},"de":{"name":"Multisystemische Dysfunktion der glatten Muskeln","synonyms":["MSMD-Syndrom"]},"es":{"name":"Síndrome multisistémico de disfunción de los músculos lisos","definition":"Es una enfermedad vascular genética, poco frecuente, que se caracteriza por disfunción congénita del músculo liso de todo el cuerpo. Se manifiesta con enfermedad cerebrovascular, anomalías aórticas, hipoperistaltismo intestinal, vejiga hipotónica e hipertensión pulmonar. Son hallazgos característicos de la enfermedad las pupilas medianamente dilatadas congénitas no reactivas a la luz, asociadas con un conducto arterioso persistente patente."},"it":{"name":"Sindrome multisistemica da disfunzione della muscolatura liscia","definition":"La sindrome multisistemica da disfunzione della muscolatura liscia è una malattia vascolare genetica rara, caratterizzata dalla disfunzione congenita della muscolatura liscia di tutto il corpo, che esordisce con una malattia cerebrovascolare, anomalie dell'aorta, ipoperistalsi intestinale, vescica ipotonica ed ipertensione polmonare. Sono segni clinici distintivi della malattia le pupille mediamente dilatate non reattive alla luce e il dotto arterioso pervio persistente."},"nl":{"name":"Multisystemisch gladde spierdisfunctie-syndroom","definition":"Multisystemisch gladde spierdisfunctie-syndroom is een zeldzame, genetische, vasculaire ziekte die gekarakteriseerd wordt door congenitale disfunctie van gladde spieren over het hele lichaam, en die zich manifesteert met cerebrovasculaire ziekte, aorta-anomalieën, intestinale hypoperistaltiek, hypotone blaas, en pulmonale hypertensie. Congenitale mid-gedilateerde pupillen die niet reageren op licht, geassocieerd met een grote, persisterende ductus arteriosus zijn typische kenmerken van de ziekte."},"pt":{"name":"Síndrome de disfunção multissistémica do músculo liso"},"pl":{"name":"Zespół wieloukładowej dysfunkcji mięśni gładkich ze spowolnieniem perystaltyki jelit","definition":"*Zespół wieloukładowej dysfunkcji mięśni gładkich ze spowolnieniem perystaltyki jelit jest rzadką, genetycznie uwarunkowaną chorobą naczyń, która charakteryzuje się wrodzoną dysfunkcją mięśni gładkich w całym organizmie. Objawia się chorobą naczyń mózgowych, wadami aorty, osłabieniem perystaltyki jelit, dysfunkcją pęcherza moczowego i nadciśnieniem płucnym. Cechą charakterystyczną tej choroby jest wrodzone, umiarkowane rozszerzenie źrenic, które nie reagują na światło oraz olbrzymi przetrwały przewód tętniczy."},"cs":{"name":"Multisystémové postižení s dysfunkcí hladké svaloviny"},"uk":{"name":"Синдром мультисистемної дисфункції гладких мязів","definition":"A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease."},"zh":{"name":"多系统平滑肌功能障碍综合征","definition":"多系统累及的平滑肌功能障碍综合征是一种罕见的遗传性血管疾病，其特征是先天性全身性平滑肌功能障碍，表现为脑血管疾病，主动脉异常，肠蠕动功能下降，低张性膀胱和肺动脉高压。该疾病的特征是先天性轻度散瞳且对光照无反应，大而持续的动脉导管未闭。"},"tr":{"name":"Multisistemik düz kas disfonksiyon sendromu"}},"xrefs":[{"source":"OMIM","code":"613834","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD50.Z","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013452","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151201","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12811","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":183503,"name":"Genetic central nervous system and retinal vascular disease","classifications":[156]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":156619,"name":"Rare genetic urogenital disease","classifications":[156]},{"orpha":101433,"name":"Rare urogenital disease","classifications":[185]},{"orpha":275853,"name":"Syndrome with pulmonary hypertension as a major feature","classifications":[184]}],"children":[],"genes":[{"symbol":"ACTA2","name":"actin alpha 2, smooth muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20734336[PMID]","hgnc":"130","ensembl":"ENSG00000107796","omim":"102620","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"20734336[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20734336[PMID]"}],"phenotypes":null}