{"orpha":140905,"name":"Hyperlipidemia due to hepatic triacylglycerol lipase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperlipidemia due to HL deficiency","Hyperlipidemia due to HTGL deficiency","Hyperlipidemia due to hepatic lipase deficiency","Hyperlipidemia due to hepatic triglyceride lipase deficiency"],"definition":"A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140905/","orphanet_url":"https://www.orpha.net/en/disease/detail/140905","names":{"fr":{"name":"Hyperlipidémie par déficit en triglycéride lipase hépatique","synonyms":["Hyperlipidémie par déficit en lipase hépatique"],"definition":"Hyperalphalipoprotéinémie rare caractérisée par des taux plasmatiques élevés de cholestérol et de triglycérides (TG) avec un enrichissement marqué en TG de lipoprotéines de basse (LDL) et de haute densité (HDL), la présence de beta-lipoprotéines circulants, de très faible densité, et des taux élevés en cholestérol HDL, en présence d'une activité lipase hépatique plasmatique post-héparine très faible, voire indétectable. Une athérosclérose précoce et/ou une maladie coronarienne peut être associée."},"de":{"name":"Hyperlipidämie durch hepatischen Triglycerid-Lipase-Mangel","synonyms":["Hyperlipidämie durch HL-Mangel","Hyperlipidämie durch HTGL-Mangel","Hyperlipidämie durch hepatische Lipase-Mangel","Hyperlipidämie durch hepatischen Triacylglycerol-Lipase-Mangel"],"definition":"Eine seltene Form der Hyperalphalipoproteinämie, die durch erhöhte Plasmacholesterin- und Triglycerid (TG)-Spiegel mit einer ausgeprägten TG-Anreicherung von Lipoproteinen niedriger und hoher Dichte (HDL), Vorhandensein von zirkulierenden Beta-Lipoproteinen sehr niedriger Dichte und erhöhten HDL-Cholesterinspiegeln bei sehr niedriger oder nicht nachweisbarer hepatischer Lipaseaktivität nach Heparin gekennzeichnet ist. Eine vorzeitige Atherosklerose und/oder koronare Herzkrankheit kann damit einhergehen."},"es":{"name":"Hiperlipidemia por deficiencia de triacilglicerol lipasa hepática","synonyms":["Hiperlipidemia por deficiencia de LH","Hiperlipidemia por deficiencia de TLH","Hiperlipidemia por deficiencia de lipasa hepática","Hiperlipidemia por deficiencia de triglicérido lipasa hepática"],"definition":"Es una hiperalfalipoproteinemia poco frecuente caracterizada por niveles elevados de colesterol y triglicéridos (TG) en plasma con un marcado enriquecimiento de lipoproteínas de baja y alta densidad (HDL), presencia de lipoproteínas beta de muy baja densidad circulantes y niveles elevados de colesterol HDL, en presencia de una actividad plasmática posheparina de la lipasa hepática muy baja o indetectable. Puede asociar aterosclerosis precoz y/o enfermedad coronaria."},"it":{"name":"Iperlipidemia da deficit di triglicerido-lipasi epatica","definition":"L'iperlipidemia da deficit di triglicerido-lipasi epatica è un'iperalfalipoproteinemia genetica rara, caratterizzata da livelli elevati di colesterolo e trigliceridi (TG) nel plasma, con un marcato arricchimento dei TG con lipoproteine a bassa e alta densità (HDL), dalla presenza di beta-lipoproteine circolanti a densità molto bassa e livelli elevati di colesterolo HDL, in presenza di un'attività della lipasi epatica post-eparinica molto bassa o non rilevabile. Possono associarsi aterosclerosi precoce e/o cardiopatie coronariche."},"nl":{"name":"Hyperlipidemie door hepatische triacylglycerollipasedeficiëntie","synonyms":["Hyperlipidemie door HL-deficiëntie","Hyperlipidemie door HTGL-deficiëntie","Hyperlipidemie door hepatische lipasedeficiëntie","Hyperlipidemie door hepatische triglyceridelipasedeficiëntie"],"definition":"Een zeldzame hyperalfalipoproteïnemie, gekenmerkt door verhoogde gehaltes van cholesterol en triglyceride (TG) in plasma met een duidelijke verrijking van lagedichtheid- en hogedichtheidlipoproteïnen (HDL) met TG, aanwezigheid van circulerende bèta-lipoproteïnen met zeer lage dichtheid en verhoogde gehaltes van HDL-cholesterol, in aanwezigheid van een zeer lage of niet-detecteerbare activiteit van hepatisch lipase in plasma na toediening van heparine. Premature atherosclerose en/of coronaire hartziekte kunnen geassocieerd zijn."},"pt":{"name":"Hiperlipidemia por deficiência de triacilglicerol lipase hepática","definition":"Hiperalfalipoproteinemia rara caracterizada por níveis plasmáticos elevados de colesterol e triglicéridos (TG) com um enriquecimento acentuado de TG em lipoproteínas de baixa e alta densidade (HDL), presença de beta-lipoproteínas de muito baixa densidade circulantes e níveis elevados de colesterol HDL, na presença de uma atividade da lipase hepática plasmática pós-heparina muito baixa ou indetetável. Aterosclerose prematura e/ou doença coronária podem estar associadas."},"pl":{"name":"Hiperlipidemia z powodu niedoboru wątrobowej lipazy triglicerydowej","synonyms":["Hyperlipidemia due to HL deficiency","Hyperlipidemia due to HTGL deficiency","Hyperlipidemia due to hepatic lipase deficiency","Hyperlipidemia due to hepatic triglyceride lipase deficiency"]},"cs":{"name":"Hyperlipidémie způsobená deficitem jaterní triglyceridové lipázy","synonyms":["Hyperlipidemia due to HL deficiency","Hyperlipidemia due to HTGL deficiency","Hyperlipidemia due to hepatic lipase deficiency","Hyperlipidemia due to hepatic triglyceride lipase deficiency"]},"uk":{"name":"Гіперліпідемія через дефіцит печінкової триацилгліцеролліпази","synonyms":["Гіперліпідемія внаслідок дефіциту печінкової ліпази","Гіперліпідемія через дефіцит печінкової тригліцеридліпази","Гіперліпідемія внаслідок дефіциту ПЛ","Гіперліпідемія внаслідок дефіциту ПТГЛ"],"definition":"A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated."},"zh":{"name":"肝脂酶缺乏症","synonyms":["肝三酰甘油脂肪酶缺陷所致高脂血症"],"definition":"肝三酰甘油脂肪酶缺乏所致高脂血症是一种罕见的遗传性高α-脂蛋白血症，其特征是血浆胆固醇和甘油三酯（TG）水平升高，伴低密度和高密度脂蛋白（HDL）的显著TG富集，存在循环中的β-极低密度脂蛋白和HDL胆固醇水平升高，且后肝素血浆肝脂肪酶活性极低或无法检测。可能与早期动脉粥样硬化和/或冠心病相关。"},"tr":{"name":"Hepatik triaçilgliserol lipaz eksikliğine bağlı hiperlipidemi","synonyms":["HL eksikliğine bağlı hiperlipidemi","HTGL eksikliğine bağlı hiperlipidemi","Karaciğer lipaz eksikliğine bağlı hiperlipidemi","Hepatik trigliserid lipaz eksikliğine bağlı hiperlipidemi"]}},"xrefs":[{"source":"OMIM","code":"614025","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013533","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151466","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12864","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181422,"name":"Rare hyperlipidemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"LIPC","name":"lipase C, hepatic type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1301939[PMID]","hgnc":"6619","ensembl":"ENSG00000166035","omim":"151670","loci":["15q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["No data available"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-09","source":"1968704[PMID]_6961921[PMID]_1671786[PMID]_12777476[PMID]_22798447[PMID]_1933710[PMID]","terms":[{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012184","label":"Increased HDL cholesterol concentration","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001013","label":"Eruptive xanthomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005181","label":"Premature coronary artery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null}]}}