{"orpha":137675,"name":"Histiocytoid cardiomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Foamy myocardial transformation of infancy","Infantile cardiomyopathy with histiocytoid change","Infantile xanthomatous cardiomyopathy","Oncocytic cardiomyopathy"],"definition":"A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137675/","orphanet_url":"https://www.orpha.net/en/disease/detail/137675","names":{"fr":{"name":"Cardiomyopathie histiocytoïde","synonyms":["Cardiomyopathie oncocytique","Cardiomyopathie xanthomateuse infantile"],"definition":"Maladie arythmogène rare caractérisée par une cardiomégalie, par de graves arythmies cardiaques ou une mort subite, et la présence de cellules de type histiocytaire dans le myocarde."},"de":{"name":"Kardiomyopathie, histiozytoide","synonyms":["Kardiomyopathie mit histiozytären Veränderungen, infantile Form","Kardiomyopathie, onkozytische","Kardiomyopathie, xanthomatöse, infantile Form"],"definition":"Eine seltene arrhythmogene Störung, die durch Kardiomymegalie, schwere Herzrhythmusstörungen oder plötzlichen Tod und das Vorhandensein von histiozytenähnlichen Zellen im Myokard gekennzeichnet ist."},"es":{"name":"Miocardiopatía histiocitoide","synonyms":["Cardiomiopatía histiocitoide","Miocardiopatia infantil con cambios histiocitoides","Miocardiopatía oncocítica","Miocardiopatía xantomatosa infantil","Transformacion miocárdica espumosa de la infancia"],"definition":"Es un trastorno arritmogénico poco frecuente caracterizado por cardiomegalia, arritmias cardíacas graves o muerte súbita, y por la presencia de células de aspecto histiocitario en el miocardio."},"it":{"name":"Cardiomiopatia istiocitoide","synonyms":["Cardiomiopatia oncocitica","Cardiomiopatia xantomatosa infantile"],"definition":"Si tratta di una malattia aritmogena rara, caratterizzata da cardiomegalia, aritmie cardiache gravi o morte improvvisa, associata alla presenza di cellule simili agli istiociti all'interno del miocardio."},"nl":{"name":"Histiocytoïde cardiomyopathie","synonyms":["Foamy myocardtransformatie in de kinderjaren","Infantiele cardiomyopathie met histiocytoïde verandering","Infantiele xanthomateuze cardiomyopathie","Oncocytische cardiomyopathie"],"definition":"Een zeldzame aritmogene aandoening, gekarakteriseerd door cardiomegalie, ernstige hartritmestoornissen of plotseling overlijden, en aanwezigheid van histiocyt-achtige cellen in myocard."},"pt":{"name":"Miocardiopatia histiocitóide","definition":"A cardiomiopatia histiocitóide é uma doença arritmogénica caracterizada por cardiomegalia, arritmias cardíacas graves ou morte súbita, e presença de células de aspecto histiocitário no miocárdio."},"pl":{"name":"Kardiomiopatia histiocytarna","synonyms":["Dziecięca kardiomiopatia ksantynowa","Dziecięca kardiomiopatia ze zmianami histiocytarnymi","Kardiomiopatia onkocytarna","Spienione przekształcenie mięśnia sercowego u niemowląt"]},"cs":{"name":"Histiocytoidní kardiomyopatie","synonyms":["Infantilní xantomatózní kardiomyopatie","Onkocytická kardiomyopatie","Infantilní kardiomyopatie s histiocytoidními změnami"]},"uk":{"name":"Гістіоцитоїдна кардіоміопатія","synonyms":["Піниста трансформація міокарда в дитячому віці","Дитяча кардіоміопатія з гістіоцитоїдними змінами","Дитяча ксантоматозна кардіоміопатія","Онкоцитарна кардіоміопатія"],"definition":"A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium."},"zh":{"name":"组织细胞样心肌病","synonyms":["婴幼儿心肌病伴组织细胞样变"],"definition":"组织细胞样心肌病是一种罕见的心律失常性疾病，以心肌肥大、严重心律失常或猝死和心肌内存在组织细胞样细胞为特征。"},"tr":{"name":"Histiyositoid kardiyomiyopati","synonyms":["Onkositik kardiyomiyopati","İnfantil ksantomatöz kardiyomiyopati","Bebeklik dönemi köpüklü miyokardiyal dönüşümü","Histiyositoid değişiklik ile seyreden infantil kardiyomiyopati"]}},"xrefs":[{"source":"OMIM","code":"212080","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"500000","qualifier":"E","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":"1870618141"},{"source":"MONDO","code":"0010771","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1708371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9511","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":217613,"name":"Mitochondrial disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":254837,"name":"Unspecified mitochondrial disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MT-CYB","name":"mitochondrially encoded cytochrome b","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10960495[PMID]","hgnc":"7427","ensembl":"ENSG00000198727","omim":"516020","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown","X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25921236[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"25921236[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-22","source":"7942464[PMID]_27504452[PMID]","terms":[{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011716","label":"Junctional ectopic tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002438","label":"Cerebellar malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007707","label":"Congenital aphakia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005950","label":"Laryngeal web","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005165","label":"Shortened PR interval","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}