{"orpha":154,"name":"Familial isolated dilated cardiomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial or idiopathic dilated cardiomyopathy"],"definition":"A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-154/","orphanet_url":"https://www.orpha.net/en/disease/detail/154","names":{"fr":{"name":"Cardiomyopathie dilatée familiale isolée","synonyms":["Cardiomyopathie dilatée idiopathique ou familiale"],"definition":"Cardiomyopathie familiale rare caractérisée par la dilatation du ventricule gauche et l'altération progressive de la fonction ventriculaire systolique, en l'absence de conditions de charge anormales ou d'une maladie coronarienne suffisante pour provoquer une altération systolique globale. La maladie peut provoquer une insuffisance cardiaque ou une arythmie. En l'absence de toute autre manifestation cardiaque ou extracardiaque atypique, on parle de forme isolée."},"de":{"name":"Kardiomyopathie, dilatative familiäre","definition":"Eine seltene familiäre Kardiomyopathie, die durch eine Dilatation des linken Ventrikels und eine fortschreitende Beeinträchtigung der systolischen Ventrikelfunktion gekennzeichnet ist, ohne dass anormale Belastungsbedingungen oder eine Erkrankung der Koronararterien vorliegen, die zu einer globalen systolischen Beeinträchtigung führen. Die Krankheit kann zu Herzversagen oder Herzrhythmusstörungen führen. Die Krankheit ist isoliert, wenn keine weiteren atypischen kardialen oder extrakardialen Manifestationen vorhanden sind."},"es":{"name":"Miocardiopatía dilatada familiar aislada","definition":"Es una miocardiopatía familiar poco frecuente caracterizada por la dilatación del ventrículo izquierdo y el deterioro progresivo de la función ventricular sistólica, en ausencia de sobrecargas de presión o de volumen o de enfermedades coronarias capaces de causar una afectación sistólica global. La enfermedad puede provocar insuficiencia cardíaca o arritmias. La afectación cardíaca se considera que es aislada cuando no se presentan otras manifestaciones cardíacas o extra-cardíacas atípicas adicionales."},"it":{"name":"Cardiomiopatia dilatativa familiare isolata","definition":"La cardiomiopatia dilatativa familiare isolata (FDC) è una cardiomiopatia familiare rara, caratterizzata dalla dilatazione del ventricolo sinistro e dal progressivo deterioramento della funzione ventricolare sistolica, in assenza di condizioni di carico anomale o di una coronaropatia tali da causare una compromissione sistolica globale. La malattia può causare insufficienza cardiaca o aritmia. È isolata quando non sono presenti altre anomalie cardiache o extracardiache."},"nl":{"name":"Familiale geïsoleerde gedilateerde cardiomyopathie","definition":"Een zeldzame familiale cardiomyopathie, gekarakteriseerd door dilatatie van linkerventrikel en progressief verstoorde systolische functie van ventrikel, in afwezigheid van abnormale belasting van het hart of aandoening van kransslagader in voldoende mate om algehele systolische stoornis te veroorzaken. De ziekte kan hartfalen of aritmie veroorzaken. De ziekte is geïsoleerd wanneer geen bijkomende atypische cardiale of extracardiale manifestaties aanwezig zijn."},"pt":{"name":"Miocardiopatia dilatada isolada familiar","definition":"Cardiomiopatia familiar rara caracterizada pela dilatação do ventrículo esquerdo e compromisso progressivo da função sistólica ventricular, na ausência de condições anómalas de sobrecarga ou de doença arterial coronária significativa para causar compromisso sistólico global. A doença pode causar insuficiência cardíaca ou arritmia. A doença é considerada isolada quando não existem outras manifestações cardíacas ou extracardíacas atípicas."},"pl":{"name":"Rodzinna lub idiopatyczna kardiomiopatia rozstrzeniowa","synonyms":["Rodzinna izolowana kardiomiopatia rozstrzeniowa"]},"cs":{"name":"Izolovaná familiární dilatační kardiomyopatie","synonyms":["Familiární idiopatická dilatační kardiomyopatie"]},"uk":{"name":"Сімейна ізольована дилатаційна кардіоміопатія","synonyms":["Сімейна або ідіопатична дилатаційна кардіоміопатія"],"definition":"A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present."},"zh":{"name":"家族性孤立型扩张型心肌病","synonyms":["家族性或特发性扩张型心肌病"]},"tr":{"name":"Ailesel izole dilate kardiyomiyopati","synonyms":["Ailesel veya idiyopatik dilate kardiyomiyopati"]}},"xrefs":[{"source":"OMIM","code":"115200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"302045","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600884","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601154","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601493","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601494","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604145","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604288","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604765","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605582","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606685","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607482","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608569","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609909","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609915","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611407","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611615","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611878","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611879","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611880","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612158","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612877","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613122","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613172","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613252","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613286","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613424","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613426","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613642","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613694","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613697","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613881","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614672","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615184","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615235","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615248","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615373","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615396","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615916","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617047","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618189","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619371","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619492","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619747","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619897","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620203","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620462","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621595","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"949016860"},{"source":"MONDO","code":"0015470","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15470","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"700335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679590","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217607,"name":"Familial dilated cardiomyopathy","classifications":[146,156]},{"orpha":207085,"name":"Qualitative or quantitative defects of dystrophin","classifications":[156]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"SCN5A","name":"sodium voltage-gated channel alpha subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"15466643[PMID]_22766342[PMID]_20301486[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]},{"symbol":"BAG5","name":"BAG cochaperone 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35044787[PMID]","hgnc":"941","ensembl":"ENSG00000166170","omim":"603885","loci":["14q32.33"]},{"symbol":"DOLK","name":"dolichol kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22242004[PMID]","hgnc":"23406","ensembl":"ENSG00000175283","omim":"610746","loci":["9q34.11"]},{"symbol":"GET3","name":"guided entry of tail-anchored proteins factor 3, ATPase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31461301[PMID]","hgnc":"752","ensembl":"ENSG00000198356","omim":"601913","loci":["19p13.13"]},{"symbol":"HAND2","name":"heart and neural crest derivatives expressed 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30217752[PMID]","hgnc":"4808","ensembl":"ENSG00000164107","omim":"602407","loci":["4q34.1"]},{"symbol":"NEXN","name":"nexilin F-actin binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19881492[PMID]_20301486[PMID]","hgnc":"29557","ensembl":"ENSG00000162614","omim":"613121","loci":["1p31.1"]},{"symbol":"TXNRD2","name":"thioredoxin reductase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21247928[PMID]","hgnc":"18155","ensembl":"ENSG00000184470","omim":"606448","loci":["22q11.21"]},{"symbol":"ABCC9","name":"ATP binding cassette subfamily C member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15034580[PMID]","hgnc":"60","ensembl":"ENSG00000069431","omim":"601439","loci":["12p12.1"]},{"symbol":"ACTC1","name":"actin alpha cardiac muscle 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9563954[PMID]_20301486[PMID]","hgnc":"143","ensembl":"ENSG00000159251","omim":"102540","loci":["15q14"]},{"symbol":"ACTN2","name":"actinin alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14567970[PMID]_25224718[PMID]_20301486[PMID]","hgnc":"164","ensembl":"ENSG00000077522","omim":"102573","loci":["1q43"]},{"symbol":"ANKRD1","name":"ankyrin repeat domain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19525294[PMID]_20301486[PMID]","hgnc":"15819","ensembl":"ENSG00000148677","omim":"609599","loci":["10q23.31"]},{"symbol":"BAG3","name":"BAG cochaperone 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21353195[PMID]_20301486[PMID]","hgnc":"939","ensembl":"ENSG00000151929","omim":"603883","loci":["10q26.11"]},{"symbol":"C10ORF71","name":"chromosome 10 open reading frame 71","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38950288[PMID]","hgnc":"26973","ensembl":"ENSG00000177354","omim":"621202","loci":["10q11.23"]},{"symbol":"CAP2","name":"cyclase associated actin cytoskeleton regulatory protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30518548[PMID]","hgnc":"20039","ensembl":"ENSG00000112186","omim":"618385","loci":["6p22.3"]},{"symbol":"CRYAB","name":"crystallin alpha B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16483541[PMID]_16793013[PMID]","hgnc":"2389","ensembl":"ENSG00000109846","omim":"123590","loci":["11q23.1"]},{"symbol":"CSRP3","name":"cysteine and glycine rich protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14567970[PMID]_20301486[PMID]","hgnc":"2472","ensembl":"ENSG00000129170","omim":"600824","loci":["11p15.1"]},{"symbol":"DES","name":"desmin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10430757[PMID]_20301486[PMID]","hgnc":"2770","ensembl":"ENSG00000175084","omim":"125660","loci":["2q35"]},{"symbol":"DMD","name":"dystrophin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14567970[PMID]_20301486[PMID]","hgnc":"2928","ensembl":"ENSG00000198947","omim":"300377","loci":["Xp21.2-p21.1"]},{"symbol":"DSG2","name":"desmoglein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18678517[PMID]_20301486[PMID]","hgnc":"3049","ensembl":"ENSG00000046604","omim":"125671","loci":["18q12.1"]},{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30993396[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]},{"symbol":"FHL2","name":"four and a half LIM domains 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17416352[PMID]","hgnc":"3703","ensembl":"ENSG00000115641","omim":"602633","loci":["2q12.2"]},{"symbol":"FKTN","name":"fukutin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17036286[PMID]","hgnc":"3622","ensembl":"ENSG00000106692","omim":"607440","loci":["9q31.2"]},{"symbol":"FLNC","name":"filamin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28008423[PMID]","hgnc":"3756","ensembl":"ENSG00000128591","omim":"102565","loci":["7q32.1"]},{"symbol":"GATAD1","name":"GATA zinc finger domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21965549[PMID]","hgnc":"29941","ensembl":"ENSG00000157259","omim":"614518","loci":["7q21.2"]},{"symbol":"JPH2","name":"junctophilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31227780[PMID]","hgnc":"14202","ensembl":"ENSG00000149596","omim":"605267","loci":["20q13.12"]},{"symbol":"LAMA4","name":"laminin subunit alpha 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17646580[PMID]","hgnc":"6484","ensembl":"ENSG00000112769","omim":"600133","loci":["6q21"]},{"symbol":"LDB3","name":"LIM domain binding 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14662268[PMID]_14660611[PMID]_20301486[PMID]","hgnc":"15710","ensembl":"ENSG00000122367","omim":"605906","loci":["10q23.2"]},{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24846508[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]},{"symbol":"LMOD2","name":"leiomodin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35082396[PMID]","hgnc":"6648","ensembl":"ENSG00000170807","omim":"608006","loci":["7q31.32"]},{"symbol":"MYBPC3","name":"myosin binding protein C3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20215591[PMID]_20301486[PMID]","hgnc":"7551","ensembl":"ENSG00000134571","omim":"600958","loci":["11p11.2"]},{"symbol":"MYH6","name":"myosin heavy chain 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15998695[PMID]_20215591[PMID]_20301486[PMID]","hgnc":"7576","ensembl":"ENSG00000197616","omim":"160710","loci":["14q11.2"]},{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11106718[PMID]_20301486[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"]},{"symbol":"MYPN","name":"myopalladin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18006477[PMID]_22892539[PMID]","hgnc":"23246","ensembl":"ENSG00000138347","omim":"608517","loci":["10q21.3"]},{"symbol":"NRAP","name":"nebulin related anchoring protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41033658[PMID]","hgnc":"7988","ensembl":null,"omim":null,"loci":["10q25.3"]},{"symbol":"PLN","name":"phospholamban","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12610310[PMID]_20301486[PMID]","hgnc":"9080","ensembl":"ENSG00000198523","omim":"172405","loci":["6q22.31"]},{"symbol":"PPCS","name":"phosphopantothenoylcysteine synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29754768[PMID]","hgnc":"25686","ensembl":"ENSG00000127125","omim":"609853","loci":["1p34.2"]},{"symbol":"PRDM16","name":"PR/SET domain 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23768516[PMID]","hgnc":"14000","ensembl":"ENSG00000142611","omim":"605557","loci":["1p36.32"]},{"symbol":"PSEN1","name":"presenilin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17186461[PMID]_20301486[PMID]","hgnc":"9508","ensembl":"ENSG00000080815","omim":"104311","loci":["14q24.2"]},{"symbol":"PSEN2","name":"presenilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17186461[PMID]_20301486[PMID]","hgnc":"9509","ensembl":"ENSG00000143801","omim":"600759","loci":["1q42.13"]},{"symbol":"RAF1","name":"Raf-1 proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24777450[PMID]","hgnc":"9829","ensembl":"ENSG00000132155","omim":"164760","loci":["3p25.2"]},{"symbol":"RBM20","name":"RNA binding motif protein 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19712804[PMID]_20301486[PMID]","hgnc":"27424","ensembl":"ENSG00000203867","omim":"613171","loci":["10q25.2"]},{"symbol":"RPL3L","name":"ribosomal protein L3 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32514796[PMID]","hgnc":"10351","ensembl":"ENSG00000140986","omim":"617416","loci":["16p13.3"]},{"symbol":"SDHA","name":"succinate dehydrogenase complex flavoprotein subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20551992[PMID]","hgnc":"10680","ensembl":"ENSG00000073578","omim":"600857","loci":["5p15.33"]},{"symbol":"SGCD","name":"sarcoglycan delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10974018[PMID]_20301486[PMID]","hgnc":"10807","ensembl":"ENSG00000170624","omim":"601411","loci":["5q33.2-q33.3"]},{"symbol":"TAF1A","name":"TATA-box binding protein associated factor, RNA polymerase I subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28472305[PMID]","hgnc":"11532","ensembl":"ENSG00000143498","omim":"604903","loci":["1q41"]},{"symbol":"TAFAZZIN","name":"tafazzin, phospholipid-lysophospholipid transacylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7616547[PMID]_9382096[PMID]_20301486[PMID]","hgnc":"11577","ensembl":"ENSG00000102125","omim":"300394","loci":["Xq28"]},{"symbol":"TCAP","name":"titin-cap","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15582318[PMID]_19412328[PMID]_20301486[PMID]","hgnc":"11610","ensembl":"ENSG00000173991","omim":"604488","loci":["17q12"]},{"symbol":"TMPO","name":"thymopoietin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16247757[PMID]_20301486[PMID]","hgnc":"11875","ensembl":"ENSG00000120802","omim":"188380","loci":["12q23.1"]},{"symbol":"TNNC1","name":"troponin C1, slow skeletal and cardiac type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15542288[PMID]_20301486[PMID]","hgnc":"11943","ensembl":"ENSG00000114854","omim":"191040","loci":["3p21.1"]},{"symbol":"TNNI3","name":"troponin I3, cardiac type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15070570[PMID]_19590045[PMID]_20301486[PMID]","hgnc":"11947","ensembl":"ENSG00000129991","omim":"191044","loci":["19q13.42"]},{"symbol":"TNNT2","name":"troponin T2, cardiac type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11684629[PMID]_15542288[PMID]_20301486[PMID]","hgnc":"11949","ensembl":"ENSG00000118194","omim":"191045","loci":["1q32.1"]},{"symbol":"TPM1","name":"tropomyosin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11273725[PMID]_20301486[PMID]","hgnc":"12010","ensembl":"ENSG00000140416","omim":"191010","loci":["15q22.2"]},{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11788824[PMID]_20301486[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]},{"symbol":"VCL","name":"vinculin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11815424[PMID]_20301486[PMID]","hgnc":"12665","ensembl":"ENSG00000035403","omim":"193065","loci":["10q22.2"]},{"symbol":"VEZF1","name":"vascular endothelial zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36657711[PMID]","hgnc":"12949","ensembl":"ENSG00000136451","omim":"606747","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.91,"area":"Europe","status":"Validated","source":"16839424[PMID]_[EXPERT]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":17.5,"area":"Europe","status":"Validated","source":"16839424[PMID]_[EXPERT]_ ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"United States","status":"Validated","source":"2766509[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-10","source":"20301486[PMID]","terms":[{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025169","label":"Left ventricular systolic dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001727","label":"Thromboembolic stroke","frequency":"Occasional (29-5%)","criteria":null}]}}