{"orpha":615,"name":"Familial atrial myxoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-615/","orphanet_url":"https://www.orpha.net/en/disease/detail/615","names":{"fr":{"name":"Myxome auriculaire","definition":"Tumeur cardiaque rare d'origine génétique, caractérisée par la présence d'une masse gélatineuse primitive bénigne située dans l'atrium et composée de tissus cellulaires conjonctifs primitifs et de stroma (ressemblant au mésenchyme) chez plusieurs membres d'une même famille. Allant de symptômes non spécifiques et/ou constitutionnels à un arrêt cardiorespiratoire, la présentation clinique dépend de la taille, de la mobilité et de la localisation de la tumeur et comprend dyspnée, hémoptysie, syncope, fatigue, fièvre, éruption cutanée, augmentation de la pression veineuse et/ou oedème périphérique."},"de":{"name":"Myxom, atriales familiäres"},"es":{"name":"Mixoma auricular familiar","definition":"Es un tumor cardiaco genético y poco frecuente caracterizado por la presencia, en varios miembros de una familia, de una masa primaria, benigna y gelatinosa localizada en las aurículas y compuesta de células primitivas de tejido conectivo y estroma (similar al mesénquima). La presentación clínica depende del tamaño del tumor, de la movilidad y la ubicación, variando desde síntomas inespecíficos y/o constitucionales hasta muerte súbita cardíaca, e incluye disnea, hemoptisis, síncope, fatiga, fiebre, erupción cutánea, aumento de la presión venosa y/o edema periférico."},"it":{"name":"Mixoma atriale familiare","definition":"Il mixoma atriale familiare è un tumore cardiaco genetico raro, caratterizzato dalla presenza di una massa gelatinosa primitiva benigna, localizzata nell'atrio e composta da cellule e stroma del tessuto connettivo primitivo (che assomigliano al mesenchima), che colpisce più membri della stessa famiglia. Il quadro clinico dipende dalle dimensioni, dalla mobilità e dalla localizzazione del tumore, e comprende sintomi aspecifici e/o costituzionali fino alla morte cardiaca improvvisa, comprendendo la dispnea, l'emottisi, la sincope, l'affaticamento, la febbre, le eruzioni cutanee, l'aumento della pressione venosa e/o l'edema periferico."},"nl":{"name":"Familiaal atriummyxoom","definition":"Familiaal atriaal myxoom is een zeldzame, genetische harttumor, en wordt gekarakteriseerd door de aanwezigheid van een primaire, goedaardige, gelatineuze massa die zich situeert in de atria en die bestaat uit primitieve bindweefselcellen en stroma (lijkend op mesenchym) in verscheidene leden van een familie. Het klinisch beeld hangt af van de omvang, mobiliteit en locatie van de tumor, gaat van niet-specifieke en/of constitutionele symptomen tot plotse hartdood, en omvat dyspneu, hemoptoë, syncope, vermoeidheid, koorts, huiduitslag, toename van de veneuze druk en/of perifeer oedeem."},"pt":{"name":"Mixoma auricular familiar"},"pl":{"name":"Rodzinny śluzak przedsionka","definition":"*Rodzinny śluzak przedsionka jest rzadkim, genetycznie uwarunkowanym guzem serca, który charakteryzuje się występowaniem u kilku członków jednej rodziny pierwotnej, łagodnej, galaretowatej masy, zlokalizowanej w przedsionkach i zbudowanej z prymitywnych komórek tkanki łącznej i zrębu (przypominającego mezenchymę). Obraz kliniczny zależy od wielkości, ruchomości i lokalizacji guza, może dawać objawy nieswoiste i/lub konstytucyjne, ale także prowadzić do nagłego zgonu sercowego. Obserwowano duszność, krwioplucie, omdlenia, zmęczenie, gorączkę, wysypkę skórną, wzrost ciśnienia żylnego i/lub obrzęki obwodowe ."},"cs":{"name":"Familiární atriální myxom"},"uk":{"name":"Сімейна міксома передсердь","definition":"A rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema."},"zh":{"name":"家族性心房粘液瘤"},"tr":{"name":"Ailesel atriyal miksoma"}},"xrefs":[{"source":"OMIM","code":"255960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D15.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1491085859"},{"source":"MONDO","code":"0009719","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538262","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850635","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"139","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":271841,"name":"Genetic cardiac tumor","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":168194,"name":"Rare cardiac tumor","classifications":[146,202]}],"children":[],"genes":[{"symbol":"PRKAR1A","name":"protein kinase cAMP-dependent type I regulatory subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10973256[PMID]","hgnc":"9388","ensembl":"ENSG00000108946","omim":"188830","loci":["17q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"1540058[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1540058[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-12","source":"9066386[PMID]_1540058[PMID]_686891[PMID]_1180432[PMID]_5115867[PMID]_4725591[PMID]","terms":[{"hpo":"HP:0011672","label":"Cardiac myxoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006691","label":"Pulmonic valve myxoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Very rare (<4-1%)","criteria":null}]}}