{"orpha":650,"name":"LCAT deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lecithin-cholesterol acyltransferase deficiency"],"definition":"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-650/","orphanet_url":"https://www.orpha.net/en/disease/detail/650","names":{"fr":{"name":"Déficit en LCAT","synonyms":["Déficit en lécithine-cholestérol-acyltransférase"],"definition":"Le déficit en lécithine-cholestérol-acyl-transférase (LCAT) est un trouble rare du métabolisme des lipoprotéines caractérisé cliniquement par des opacités de la cornée, et parfois par une insuffisance rénale et une anémie hémolytique, et biochimiquement par un taux de HDL-cholestérol sévèrement réduit."},"de":{"name":"LCAT-Mangel","synonyms":["Lecitin-Cholesterin-Acyltransferase-Mangel"],"definition":"Der LCAT (Lecithin-Cholesterol-Acyltransferase)-Mangel ist eine seltene Störung des Lipoprotein-Stoffwechsels und klinisch gekennzeichnet durch Hornhauttrübung, manchmal Niereninsuffizienz und hämolytische Anämie, und biochemisch durch stark reduzierte Konzentration des HDL-Cholesterols."},"es":{"name":"Deficiencia de LCAT","synonyms":["Deficiencia de lecitina-colesterol-acil-transferasa"],"definition":"El déficit de LCAT (lecitina-colesterol-acil-transferasa) es un trastorno del metabolismo de las lipoproteínas poco frecuente caracterizado clínicamente por opacidades de la córnea y, a veces, fallo renal y anemia hemolítica, y, bioquímicamente, por una reducción drástica del colesterol HDL."},"it":{"name":"Deficit di LCAT","synonyms":["Deficit di lecitina-colesterolo-aciltransferasi"],"definition":"Il deficit di LCAT (lecitina-colesterolo aciltransferasi) è una malattia rara del metabolismo delle lipoproteine, caratterizzata clinicamente da opacità corneali e, a volte, da insufficienza renale e anemia emolitica, e biochimicamente da una grave riduzione del colesterolo HDL."},"nl":{"name":"LCAT-deficiëntie","synonyms":["Lecithine-cholesterol-acyltransferasedeficiëntie"],"definition":"LCAT (lecithine-cholesterol-acyltransferase)-deficiëntie is een zeldzame aandoening van het lipoproteïnenmetabolisme die klinisch gekenmerkt wordt door opaciteit van het hoornvlies, en soms nierfalen en hemolytische anemie, en biochemisch gekenmerkt door ernstig verminderde HDL-cholesterolwaarden."},"pt":{"name":"Deficiência de LCAT","synonyms":["Deficiência de lecitina-colesterol aciltransferase","Doença de Norum","Doença de olho de peixe","Ictiose oftálmica"],"definition":"O défice de LCAT (lecitina-colesterol aciltransferase) é uma doença rara do metabolismo das lipoproteínas clinicamente caracterizada por opacidades da córnea, e por vezes insuficiência renal e anemia hemolítica, e bioquimicamente por redução acentuada do colesterol HDL."},"pl":{"name":"Niedobór LCAT","synonyms":["Niedobór acylotransferazy lecytynowo-cholesterolowej"]},"cs":{"name":"Nedostatek LCAT","synonyms":["Deficit lecitin cholesterol acyltransferázy","Choroba \"rybích ocí","Deficit lecitincholesterolacyltransferázy","Choroba \"rybích očí"]},"uk":{"name":"Дефіцит LCAT","synonyms":["Дефіцит лецитин-холестерин-ацилтрансферази"],"definition":"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol."},"zh":{"name":"卵磷脂酰基转移酶缺乏症","synonyms":["卵磷脂-胆固醇酰基转移酶缺乏症"]},"tr":{"name":"LCAT eksikliği","synonyms":["Lesitin-kolesterol açiltransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"136120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"245900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018999","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779633","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":31153,"name":"Hypoalphalipoproteinemia","classifications":[150,156,193]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[{"orpha":79293,"name":"Familial LCAT deficiency","type":"Clinical subtype"},{"orpha":79292,"name":"Fish-eye disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"LCAT","name":"lecithin-cholesterol acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9162740[PMID]","hgnc":"6522","ensembl":"ENSG00000213398","omim":"606967","loci":["16q22.1"],"via":{"orpha":79292,"name":"Fish-eye disease"}},{"symbol":"LCAT","name":"lecithin-cholesterol acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9162740[PMID]","hgnc":"6522","ensembl":"ENSG00000213398","omim":"606967","loci":["16q22.1"],"via":{"orpha":79293,"name":"Familial LCAT deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":125.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-29","source":"34256778[PMID]_32998975[PMID]","terms":[{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031799","label":"Decreased apolipoprotein AI level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005181","label":"Premature coronary artery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}