{"orpha":555877,"name":"FLNA-related X-linked myxomatous valvular dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["FLNA-related valvular dystrophy","Filamin A-related X-linked myxomatous valvular dysplasia"],"definition":"A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-555877/","orphanet_url":"https://www.orpha.net/en/disease/detail/555877","names":{"fr":{"name":"Dysplasie valvulaire myxomatose liée à l'X associée à FLNA","synonyms":["Dysplasie valvulaire myxomatose liée à l'X associée à la filamine A","Dystrophie valvulaire associée à FLNA"],"definition":"Malformation cardiaque génétique rare caractérisée par une dégénérescence myxomateuse progressive, principalement de la valve mitrale (mais l'atteinte de plusieurs valves n'est pas rare), se manifestant par un épaississement et un dysfonctionnement de la valve avec une sténose de degré variable, un prolapsus et/ou une régurgitation mitrale et pouvant entraîner une insuffisance cardiaque létale. Une peau hyperextensible et une hypermobilité articulaire ont été rapportées chez certains patients. Le phénotype est plus sévère chez les hommes hémizygotes que chez les femmes hétérozygotes."},"de":{"name":"FLNA-assoziierte X-chromosomale myxomatose Herzklappendysplasie","synonyms":["Herzklappendysplasie, FLNA-Gen-assoziierte","X-chromosomale Herzklappendysplasie"],"definition":"Eine seltene genetisch bedingte Fehlbildung des Herzens, die durch eine fortschreitende myxomatöse Degeneration vorwiegend der Mitralklappe (aber nicht selten mit multivalvulärer Beteiligung) gekennzeichnet ist, die sich als Klappenverdickung und -dysfunktion mit variabler Stenose, Prolaps und/oder Regurgitation manifestiert und potenziell zu tödlichem Herzversagen führen kann. Bei einigen Patienten wurden hyperextensible Haut und Gelenkhypermobilität festgestellt. Hemizygote Männer weisen einen schwereren Phänotyp auf als heterozygote Frauen."},"es":{"name":"Displasia valvular mixomatosa ligada al cromosoma X asociada al gen FLNA","synonyms":["Displasia valvular mixomatosa ligada al cromosoma X asociada a la filamina A","Distrofia valvular asociada al gen FLNA"],"definition":"Es una malformación cardíaca de origen genético y poco frecuente caracterizada por una degeneración mixomatosa progresiva predominantemente de la válvula mitral (aunque no es infrecuente la afectación multivalvular), que se presenta como un engrosamiento y disfunción de la válvula con estenosis variable, prolapso y/o regurgitación, y que puede dar lugar a insuficiencia cardíaca letal. En algunos pacientes se ha descrito la presencia de hiperextensibilidad cutánea e hipermovilidad articular. Los varones hemicigotos presentan un fenotipo más grave que las mujeres heterocigotas."},"it":{"name":"Displasia valvolare mixomatosa legata all'X correlata a FLNA","definition":"Si tratta di una cardiopatia genetica rara, caratterizzata da una degenerazione mixomatosa progressiva che interessa prevalentemente la valvola mitrale (ma che spesso coinvolge anche altre valvole), si manifesta sotto forma di ispessimento e disfunzione della valvola con stenosi variabile, prolasso e/o rigurgito, e può esitare nell'insufficienza cardiaca letale. Alcuni pazienti presentano cute iperelastica e ipermobilità articolare. I maschi emizigoti presentano un fenotipo più grave rispetto alle femmine eterozigoti."},"nl":{"name":"FLNA-gerelateerde X-gebonden myxomateuze klepdysplasie","synonyms":["FLNA-gerelateerde klepdystrofie","Filamine A-gerelateerde X-gebonden myxomateuze klepdysplasie"],"definition":"Een zeldzame, genetische malformatie van hart, gekenmerkt door progressieve myxomateuze degeneratie van hoofdzakelijk mitralisklep (maar niet uitzonderlijk met betrokkenheid van meerdere kleppen), met verdikking en disfunctie van de klep met variabele stenose, prolaps, en/of regurgitatie als presentatie, en mogelijk met letaal hartfalen tot gevolg. Bij sommige patiënten werden hyperelastische huid en gewrichtshypermobiliteit gerapporteerd. Hemizygote mannen vertonen een ernstiger fenotype dan heterozygote vrouwen."},"pt":{"name":"Displasia valvular mixomatosa ligada ao X FLNA-relacionada"},"pl":{"name":"Dysplazja śluzakowata zastawkowa sprzężona z chromosomem X związana z FLNA","synonyms":["FLNA-related valvular dystrophy","Filamin A-related X-linked myxomatous valvular dysplasia"]},"cs":{"name":"X-vázaná myxomatozní valvulární dysplázie související s FLNA","synonyms":["FLNA-vázaná valvulární dystrofie","X-vázaná myxomatozní valvulární dysplázie související s filaminem A"]},"uk":{"name":"Х-зчеплена міксоматозна клапанна дисплазія, повязана з FLNA","synonyms":["Міксоматозна клапанна дисплазія, повязана з філаміном А, зчеплена з Х-хромосомою","Клапанна дистрофія, повязана з FLNA"],"definition":"A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females."},"zh":{"name":"FLNA基因相关的X连锁粘液瘤性瓣膜发育不良","synonyms":["细丝蛋白A相关X连锁粘液瘤性瓣膜发育不良"]},"tr":{"name":"FLNA-ilişkili X'e bağlı miksomatöz valvüler displazi","synonyms":["FLNA-ilişkili kapak distrofisi","FLNA ile ilişkili kapak distrofisi","Filamin A ile ilişkili X'e bağlı miksomatöz valvüler displazi"]}},"xrefs":[{"source":"OMIM","code":"314400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q23.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010753","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10753","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0262436","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1096","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1864,"name":"OBSOLETE: Congenital valvular dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98720,"name":"Atrioventricular valve anomaly","classifications":[147,148]},{"orpha":477805,"name":"Genetic cardiac malformation","classifications":[156]}],"children":[],"genes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17190868[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29146485[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-18","source":"29020406[PMID]_24521555[PMID]_27739212[PMID]_27004951[PMID]_29146485[PMID]","terms":[{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010444","label":"Pulmonary insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031624","label":"Moderate myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032388","label":"Periventricular nodular heterotopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very rare (<4-1%)","criteria":null}]}}