{"orpha":75249,"name":"Familial isolated restrictive cardiomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial or idiopathic restrictive cardiomyopathy"],"definition":"A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75249/","orphanet_url":"https://www.orpha.net/en/disease/detail/75249","names":{"fr":{"name":"Cardiomyopathie restrictive familiale isolée","synonyms":["Cardiomyopathie restrictive familiale ou idiopathique"],"definition":"Maladie cardiaque rare d'origine génétique caractérisée par un remplissage ventriculaire restrictif dû à une augmentation de la rigidité ventriculaire entraînant une dysfonction diastolique sévère en l'absence de dilatation et d'hypertrophie de ventricules."},"de":{"name":"Kardiomyopathie, restriktive, familiäre isolierte","synonyms":["Kardiomyopathie, restriktive, familiäre oder idiopathische"],"definition":"Eine seltene genetische Herzerkrankung, die durch eine restriktive Ventrikelfüllung aufgrund einer hohen Ventrikelsteifigkeit gekennzeichnet ist und zu einer schweren diastolischen Dysfunktion führt, ohne dass die Ventrikel erweitert oder hypertrophiert sind."},"es":{"name":"Miocardiopatía restrictiva familiar aislada","synonyms":["Cardiomiopatía restrictiva aislada familiar","Miocardiopatía restrictiva aislada idiopática o familiar"],"definition":"Es una enfermedad cardíaca genética poco frecuente, caracterizada por una restricción al llenado ventricular por una importante rigidez ventricular, que resulta en una disfunción diastólica grave en ausencia de dilatación o hipertrofia ventrícular."},"it":{"name":"Cardiomiopatia restrittiva isolata familiare","synonyms":["Cardiomiopatia restrittiva idiopatica o familiare"],"definition":"Si tratta di una cardiopatia genetica rara, caratterizzata da riempimento ventricolare restrittivo causato da un'elevata rigidità ventricolare, che esita in una grave disfunzione diastolica, in assenza di dilatazione o ipertrofia dei ventricoli."},"nl":{"name":"Familiale geïsoleerde restrictieve cardiomyopathie","synonyms":["Familiale of idiopathische restrictieve cardiomyopathie"],"definition":"Een zeldzame, genetische hartziekte, gekarakteriseerd door beperkt vullen van hartkamers als gevolg van stijfheid van ventrikels, wat resulteert in ernstige diastolische disfunctie in afwezigheid van dilatatie of hypertrofie van ventrikels."},"pt":{"name":"Miocardiopatia restritiva idiopática ou familiar"},"pl":{"name":"Rodzinna izolowana kardiomiopatia restrykcyjna","synonyms":["Rodzinna lub idiopatyczna kardiomiopatia restrykcyjna"]},"cs":{"name":"Familiární izolovaná restrikční kardiomyopatie","synonyms":["Familiární nebo idiopatická restrikční kardiomyopatie"]},"uk":{"name":"Сімейна ізольована рестриктивна кардіоміопатія","synonyms":["Сімейна або ідіопатична рестриктивна кардіоміопатія"],"definition":"A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles."},"zh":{"name":"家族性孤立型限制性心肌病","synonyms":["家族性或孤立型限制性心肌病"]},"tr":{"name":"Ailesel izole kısıtlayıcı kardiyomiyopati","synonyms":["Ailesel veya idiyopatik kısıtlayıcı kardiyomiyopati"]}},"xrefs":[{"source":"OMIM","code":"115210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609578","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612422","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615248","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617047","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619433","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"BC43.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"617069929"},{"source":"MONDO","code":"0019150","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680139","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99985,"name":"OBSOLETE: Familial restrictive cardiomyopathy type 1","status":"inactive"},{"type":"Referred to","orpha":99986,"name":"OBSOLETE: Familial restrictive cardiomyopathy type 2","status":"inactive"},{"type":"Referred to","orpha":218432,"name":"OBSOLETE: Familial restrictive cardiomyopathy type 3","status":"inactive"}],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217635,"name":"Familial restrictive cardiomyopathy","classifications":[146,156]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"KIF20A","name":"kinesin family member 20A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29357359[PMID]","hgnc":"9787","ensembl":"ENSG00000112984","omim":"605664","loci":["5q31.2"]},{"symbol":"FLNC","name":"filamin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26666891[PMID]","hgnc":"3756","ensembl":"ENSG00000128591","omim":"102565","loci":["7q32.1"]},{"symbol":"MYPN","name":"myopalladin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22286171[PMID]","hgnc":"23246","ensembl":"ENSG00000138347","omim":"608517","loci":["10q21.3"]},{"symbol":"TNNI3","name":"troponin I3, cardiac type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12531876[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":"16651346[PMID]","hgnc":"11949","ensembl":"ENSG00000118194","omim":"191045","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-12","source":"28912187[PMID]_15542407[PMID]","terms":[{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031329","label":"Interstitial cardiac fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031295","label":"Left atrial enlargement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Very rare (<4-1%)","criteria":null}]}}