{"orpha":412,"name":"Dysbetalipoproteinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Broad-beta disease","Familial dyslipidemia type 3","HLP type 3","Hyperlipidemia type 3","Hyperlipoproteinemia type 3","Remnant hyperlipoproteinemia"],"definition":"A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412/","orphanet_url":"https://www.orpha.net/en/disease/detail/412","names":{"fr":{"name":"Dysbêtalipoprotéinémie","synonyms":["Dyslipidémie familiale de type 3","Dyslipoprotéinémie à broad-bêta","HLP de type 3","Hyperlipidémie de type 3","Hyperlipoprotéinemie de type 3"],"definition":"Hyperlipidémie combinée rare (HLP de type 3) caractérisée par des taux élevés de cholestérol et de triglycérides (transportés par des lipoprotéines de densité intermédiaire [IDL pour intermediate density lipoproteins]) et par un risque accru d'athérosclérose progressive et de maladie cardiovasculaire précoce."},"de":{"name":"Dysbetalipoproteinämie","synonyms":["Broad-beta-Lipoproteinämie","Familiäre Dyslipidämie Typ 3","HLP Typ 3","Hyperlipidämie Typ 3","Hyperlipoproteinämie Typ 3","Remnant-Hyperlipidämie","Remnant-Krankheit"],"definition":"Eine seltene kombinierte Hyperlipidämie (HLP Typ 3), die durch hohe Cholesterin- und Triglyceridwerte, die von Lipoproteinen intermediärer Dichte (IDLs) transportiert werden, und ein hohes Risiko für fortschreitende Atherosklerose und vorzeitige kardiovaskuläre Erkrankungen gekennzeichnet ist."},"es":{"name":"Disbetalipoproteinemia","synonyms":["Dislipidemia familiar tipo 3","Enfermedad de beta ancha","HLP tipo 3","Hiperlipidemia tipo 3","Hiperlipoproteinemia remanente","Hiperlipoproteinemia tipo 3"],"definition":"Es una hiperlipidemia (HLP tipo 3) combinada poco frecuente caracterizada por niveles elevados de colesterol y triglicéridos transportados por lipoproteínas de densidad intermedia (IDL), y un elevado riesgo de ateroesclerosis progresiva y enfermedad cardiovascular temprana."},"it":{"name":"Disbetalipoproteinemia","synonyms":["Dislipidemia familiare tipo 3","HLP, tipo 3","Iperlipidemia, tipo 3","Iperlipoproteinemia di Remnant","Iperlipoproteinemia, tipo 3"],"definition":"Si tratta di un'iperlipidemia combinata rara (HLP tipo 3), caratterizzata da livelli elevati di colesterolo e trigliceridi, trasportati da lipoproteine a densità intermedia (IDL), associati ad un rischio elevato di aterosclerosi progressiva e malattia cardiovascolare precoce."},"nl":{"name":"Dysbètalipoproteïnemie","synonyms":["Brede bètaband-ziekte","Familiale dyslipidemie type 3","HLP type 3","Hyperlipoproteïnemie type 3","Restant-hyperlipoproteïnemie"],"definition":"Een zeldzame gecombineerde hyperlipidemie (HLP type 3) gekarakteriseerd door hoge gehaltes van cholesterol en triglyceriden, getransporteerd door lipoproteïnen met intermediaire dichtheid (IDL's), en door een hoog risico op progressieve atherosclerose en premature cardiovasculaire ziekte."},"pt":{"name":"Disbetalipoproteinemia","synonyms":["Dislipidemia familiar tipo 3","HLP tipo3","Hiperlipidemia tipo 3","Hiperlipoproteinemia tipo 3"]},"pl":{"name":"Dysbetalipoproteinemia","synonyms":["Betalipoproteinemia szeroka","Choroba Remnanta","Dysbetalipoproteinemia rodzinna","Dyslipidemia typu 3","Hiperlipidemia typu 3","HLP typu 3","Rodzinna hiperlipoproteinemia typu 3"]},"cs":{"name":"Hyperlipoproteinémie, typ 3","synonyms":["Broad-beta disease","Familial dyslipidemia type 3","HLP type 3","Hyperlipidemia type 3","Hyperlipoproteinemia type 3","Remnant hyperlipoproteinemia"]},"uk":{"name":"Дисбеталіпопротеїнемія","synonyms":["Хвороба широкої бета-лінійки","Сімейна дисліпідемія типу 3","HLP тип 3","Гіперліпідемія типу 3","Гіперліпопротеїнемія типу 3","Залишкова гіперліпопротеїнемія"],"definition":"A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease."},"zh":{"name":"β脂蛋白异常","synonyms":["残粒性血脂蛋白过多症"]},"tr":{"name":"Disbetalipoproteinemi","synonyms":["HLP tip 3","Broad-beta hastalığı","Hiperlipidemi tip 3","Hiperlipoproteinemi tip 3","Ailesel dislipidemi tip 3","Kalıntı hiperlipoproteinemi"]}},"xrefs":[{"source":"OMIM","code":"617347","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C80.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1345883140"},{"source":"MONDO","code":"0018473","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006952","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020479","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6703","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10060751","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":"APOE","name":"apolipoprotein E","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24405372[PMID]_21463987[PMID]","hgnc":"613","ensembl":"ENSG00000130203","omim":"107741","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.8,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Worldwide","status":"Validated","source":"21354122[PMID]_24314366[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-05","source":"32255405[PMID]_25768710[PMID]_1531990[PMID]_1728471[PMID]_20452521[PMID]_8185134[PMID]_25111166[PMID]_26103610[PMID]","terms":[{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002635","label":"Atheromatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001084","label":"Corneal arcus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001013","label":"Eruptive xanthomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000660","label":"Lipemia retinalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010874","label":"Tendon xanthomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031290","label":"Tuberous xanthoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025530","label":"Xanthomas of the palmar creases","frequency":"Frequent (79-30%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0004943","label":"Accelerated atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001735","label":"Acute pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012397","label":"Aortic atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001997","label":"Gout","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004950","label":"Peripheral arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005181","label":"Premature coronary artery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000799","label":"Renal steatosis","frequency":"Occasional (29-5%)","criteria":null}]}}