{"orpha":79293,"name":"Familial LCAT deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Complete LCAT deficiency","FLD","Norum disease"],"definition":"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79293/","orphanet_url":"https://www.orpha.net/en/disease/detail/79293","names":{"fr":{"name":"Déficit familial complet en LCAT","synonyms":["Déficit complet en LCAT","FLD","Maladie de Norum"],"definition":"Le déficit en lécithine-cholestérol acyltransférase (LCAT) familial est une forme de déficit en LCAT caractérisée cliniquement par des opacités cornéennes, une anémie hémolytique et une insuffisance rénale, et biochimiquement par un déficit complet de l'enzyme LCAT."},"de":{"name":"LCAT-Mangel, familiärer","synonyms":["FLD","LCAT-Mangel, kompletter","Norum-Krankheit"],"definition":"Der Familiäre LCAT (Lecithin-Cholesterol-Acyltransferase)-Mangel (FLD) ist eine Form des Lecithin-Cholesterol-Acyltransferase-Mangels (LCAT; s. dort), klinisch gekennzeichnet durch Hornhauttrübung, hämolytische Anämie und Niereninsuffizienz und biochemisch durch stark vermindertes HDL-Cholesterin und vollständigen Mangel des LCAT-Enzyms."},"es":{"name":"Deficiencia familiar de LCAT","synonyms":["Deficiencia completa de LCAT","Enfermedad de Norum","FLD"],"definition":"El déficit familiar de LCAT (lecitina-colesterol-acil-transferasa) (FLD) es una forma del déficit de lecitina-colesterol-acil-transferasa (LCAT; consulte este término) caracterizado clínicamente por opacidades de la córnea, anemia hemolítica e insuficiencia renal, y bioquímicamente por una reducción drástica del colesterol HDL y un déficit completo de la enzima LCAT."},"it":{"name":"Deficit familiare di LCAT","synonyms":["Deficit completo di LCAT","FLD","Malattia di Norum"],"definition":"Il deficit familiare di LCAT (lecitina-colesterolo aciltransferasi) (FLD) è una forma di deficit della lecitina-colesterolo aciltransferasi (LCAT; si veda questo termine), caratterizzata clinicamente da opacità corneali, anemia emolitica e insufficienza renale, e, biochimicamente, da grave riduzione del colesterolo HDL e dal deficit completo dell'enzima LCAT."},"nl":{"name":"Familiale LCAT-deficiëntie","synonyms":["FLD","Volledige LCAT-deficiëntie","Ziekte van Norum"],"definition":"Familiale LCAT (lecithine-cholesterol acyltransferase) -deficiëntie (FLD) is een vorm van lecithine-cholesterol acyltransferasedeficiëntie (LCAT; zie deze term), klinisch gekenmerkt door hoornvliesvertroebelingen, hemolytische anemie en nierfalen, en biochemisch door een ernstig verlaagd HDL-cholesterolgehalte en volledige deficiëntie van het LCAT-enzym."},"pt":{"name":"Deficiência de LCAT familiar","definition":"O défice de LCAT familiar (lecitina-colesterol aciltransferase) (FLD) é uma forma de deficiência de lecitina-colesterol aciltransferase (LCAT; ver este termo) clinicamente caracterizada por opacidades corneanas, anemia hemolítica e insuficiência renal, e bioquimicamente por colesterol HDL gravemente diminuido e deficiência completa da enzima LCAT."},"pl":{"name":"Rodzinny Niedobór LCAT","synonyms":["Całkowity Niedobór LCAT","Choroba Noruma","FLD"]},"cs":{"name":"Familiární deficit LCAT","synonyms":["Kompletní deficit LCAT","FLD","Norumova choroba"]},"uk":{"name":"Сімейний дефіцит LCAT","synonyms":["Повна недостатність LCAT","FLD","Хвороба Норума"],"definition":"Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme."},"zh":{"name":"家族性LCAT缺陷症","synonyms":["完全性LCAT缺陷症"]},"tr":{"name":"Ailesel LCAT eksikliği","synonyms":["FLD","Norum hastalığı","Tam LCAT eksikliği"]}},"xrefs":[{"source":"OMIM","code":"245900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C81.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1147277534"},{"source":"MONDO","code":"0009515","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023195","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4011","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":650,"name":"LCAT deficiency","classifications":[150,156,188,189,193,233]},{"orpha":182043,"name":"Rare constitutional hemolytic anemia","classifications":[156,194]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}