{"orpha":692305,"name":"Triglyceride deposit cardiomyovasculopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neutral lipid storage disease with severe cardiovascular involvement","TGCV"],"definition":"A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-692305/","orphanet_url":"https://www.orpha.net/en/disease/detail/692305","names":{"fr":{"name":"Cardiomyovasculopathie à surcharge lipidique","synonyms":["Maladie à surcharge lipidique avec atteinte cardiovasculaire sévère","TGCV"],"definition":"Maladie cardiovasculaire rare caractérisée par une lipolyse intracellulaire défectueuse des triglycérides à longue chaîne (LCTG), entraînant une insuffisance cardiaque et une athérosclérose diffuse."},"de":{"name":"Triglycerid-Speicher-Kardiomyovaskulopathie","synonyms":["Neutralfett-Speicherkrankheit mit schwerer kardiovaskulärer Beteiligung","TGCV"],"definition":"Eine seltene kardiovaskuläre Störung, die durch eine gestörte intrazelluläre Lipolyse von langkettigen Triglyceriden (LCTG) gekennzeichnet ist und zu Herzversagen und diffuser Atherosklerose führt."},"es":{"name":"Vasculopatía miocárdica por depósito de triglicéridos","synonyms":["Enfermedad por depósito de lípidos neutros con afectación cardiovascular grave","TGCV"],"definition":"Es un trastorno cardiovascular poco frecuente caracterizado por una lipólisis intracelular defectuosa de los triglicéridos de cadena larga (TGCL), que provoca insuficiencia cardíaca y aterosclerosis difusa."},"it":{"name":"Cardiomiovasculopatia da depositi di trigliceridi","synonyms":["Malattia da accumulo di lipidi neutri con grave coinvolgimento cardiovascolare","TGCV"]},"nl":{"name":"Cardiomyovasculopathie met depositie van triglyceriden","synonyms":["Neutrale lipidestapelingsziekte met ernstige cardiovasculaire betrokkenheid","TGCV"],"definition":"Een zeldzame cardiovasculaire aandoening, gekenmerkt door verstoorde intracellulaire lipolyse van lange-keten-triglyceriden (LCTG), met als gevolg hartfalen en diffuse atherosclerose."},"pt":{"name":"Cardiomiovasculopatia devido a depósito de triglicéridos","synonyms":["Doença de armazenamento de lípidos neutros com envolvimento cardiovascular grave","TGCV"]},"pl":{"name":"Kardiomiowaskulopatia z odkładaniem trójglicerydów","synonyms":["Neutral lipid storage disease with severe cardiovascular involvement","TGCV"]},"cs":{"name":"Kardiomyovaskulopatie s triglyceridovými ložisky","synonyms":["Neutral lipid storage disease with severe cardiovascular involvement","TGCV"]}},"xrefs":[{"source":"ICD-10","code":"E78.8+","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"I43.1*","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":165,"name":"Neutral lipid storage disease","classifications":[150,156,181]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]},{"orpha":217678,"name":"Unclassified cardiomyopathy","classifications":[146]}],"children":[{"orpha":692296,"name":"Idiopathic triglyceride deposit cardiomyovasculopathy","type":"Etiological subtype"},{"orpha":565612,"name":"Primary triglyceride deposit cardiomyovasculopathy","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PNPLA2","name":"patatin like domain 2, triacylglycerol lipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29539587[PMID]_31186072[PMID]","hgnc":"30802","ensembl":"ENSG00000177666","omim":"609059","loci":["11p15.5"],"via":{"orpha":565612,"name":"Primary triglyceride deposit cardiomyovasculopathy"}}],"inheritance":["Autosomal recessive","Unknown"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":991.0,"area":"Japan","status":"Validated","source":"40155256[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}