{"orpha":284247,"name":"Familial retinal arterial macroaneurysm","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FRAM","Retinal arterial macroaneurysm and supravalvular pulmonic stenosis"],"definition":"A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284247/","orphanet_url":"https://www.orpha.net/en/disease/detail/284247","names":{"fr":{"name":"Macroanévrisme artériel rétinien familial","synonyms":["FRAM","Macroanévrisme artériel de la rétine et sténose pulmonaire supravalvulaire"],"definition":"Maladie cardiaque rare d'origine génétique caractérisée par l'apparition précoce d'un macroanévrisme artériel rétinien et d'une sténose supravalvulaire pulmonaire concomitante, nécessitant souvent une correction chirurgicale."},"de":{"name":"Makroaneurysmen, arterielle retinale, familiäre Form","synonyms":["FRAM","Retinale arterielle Makroaneurysmen - supravalvuläre Pulmonalstenose"]},"es":{"name":"Macroaneurisma arterial retiniano familiar","synonyms":["FRAM","Macroaneurisma arterial retiniano y estenosis pulmonar supravalvular"],"definition":"El macroaneurisma arterial retiniano familiar es una enfermedad cardíaca, genética y poco frecuente, caracterizada por un inicio temprano de formación de macroaneurismas arteriales retinianos y estenosis pulmonar supravalvular concomitante que requiere, con frecuencia, corrección quirúrgica."},"it":{"name":"Macroaneurisma arterioso retinico familiare","synonyms":["FRAM","Macroaneurisma arterioso retinico e stenosi polmonare sopravalvolare"],"definition":"Il macroaneurisma arterioso retinico familiare è una cardiopatia genetica rara, caratterizzata dalla formazione di macroaneurismi arteriosi retinici ad esordio precoce e stenosi sopravalvolare polmonare concomitante, che spesso necessita della correzione chirurgica."},"nl":{"name":"Familiaal retinaal arterieel macroaneurysma","synonyms":["FRAM","Retinaal arterieel macroaneurysma en supravalvulaire pulmonale stenose"],"definition":"Familiaal retinaal arterieel macroaneurysma is een zeldzame, genetische hartziekte die gekarakteriseerd wordt door vroege vorming van retinale arteriële macroaneurysmata en gelijktijdige supravalvulaire pulmonale stenose, en die vaak chirurgische correctie vereist."},"pt":{"name":"Macroaneurisma arterial retiniano familiar"},"pl":{"name":"Rodzinny makrotętniak tętnicy siatkówki","synonyms":["FRAM","Makrotętniak tętnicy siatkówki i podzastawkowe zwężenie tętnicy płucnej"],"definition":"*Rodzinny makrotętniak tętnic siatkówki jest rzadką, genetycznie uwarunkowaną chorobą serca, która charakteryzuje się wczesnym występowaniem makrotętniaków tętnicy siatkówkowej i współistniejącym nadzastawkowym zwężeniem tętnicy płucnej, często wymagającym chirurgicznej korekty."},"cs":{"name":"Familiární retinální arteriální makroaneuryzma","synonyms":["FRAM","Retinální arteriální makroaneuryzma a supravalvulární stenóza arterie pulmonaris"]},"uk":{"name":"Сімейна артеріальна макроаневризма сітківки","synonyms":["FRAM","Макроаневризма артерії сітківки та надклапанний легеневий стеноз"],"definition":"A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction."},"zh":{"name":"家族性视网膜大动脉瘤","synonyms":["视网膜大动脉瘤与瓣膜上肺动脉狭窄"],"definition":"家族性视网膜大动脉瘤是一种罕见的遗传性心脏病，其特点是早发性视网膜大动脉瘤形成，并伴有肺动脉瓣上狭窄，常需手术矫正。"},"tr":{"name":"Ailesel retinal arteriyel makroanevrizma","synonyms":["FRAM","Retinal arter makroanevrizması ve supravalvüler pulmoner stenoz"]}},"xrefs":[{"source":"OMIM","code":"614224","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"800928909"},{"source":"MONDO","code":"0013640","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280205","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12779","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"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":717339,"name":"Rare genetic non-progressive retinal vasculopathy","classifications":[156]},{"orpha":716450,"name":"Rare non-progressive retinal vasculopathy","classifications":[189]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"IGFBP7","name":"insulin like growth factor binding protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21835307[PMID]","hgnc":"5476","ensembl":"ENSG00000163453","omim":"602867","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}