{"orpha":79292,"name":"Fish-eye disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FED","Partial LCAT deficiency"],"definition":"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79292/","orphanet_url":"https://www.orpha.net/en/disease/detail/79292","names":{"fr":{"name":"Maladie des yeux de poisson","synonyms":["Déficit partiel en LCAT","FED","Ichtyophtalmie"],"definition":"La maladie des yeux de poissons est une forme génétique de déficit en LCAT (lécithine-cholestérol acyltransférase) caractérisée cliniquement par des opacités cornéennes, et biochimiquement par un taux de HDL-cholestérol significativement réduit et un déficit enzymatique partiel de LCAT."},"de":{"name":"Fischaugen-Syndrom","synonyms":["FED","LCAT-Mangel, partieller"],"definition":"Die Fischaugen-Krankheit (FED) ist eine Form des genetischen LCAT (Lecithin-Cholesterol- Acyltransferase)-Mangels (s. dort), klinisch gekennzeichnet durch Hornhauttrübungen und biochemisch durch signifikant vermindertes HDL-Cholesterol und partiell defiziente LCAT-Enzymaktivität."},"es":{"name":"Enfermedad del ojo de pez","synonyms":["Deficiencia parcial de LCAT","FED"],"definition":"La enfermedad del ojo de pez (FED) es una forma genética del déficit de LCAT (lecitina-colesterol-acil-transferasa) (consulte este término) caracterizado clínicamente por opacidades de la córnea, y bioquímicamente por una reducción significativa del colesterol HDL y un déficit parcial de la enzima LCAT."},"it":{"name":"Malattia degli occhi da pesce","synonyms":["Deficit parziale di LCAT","FED"],"definition":"La malattia degli \"occhi da pesce\" (FED) è una forma del deficit genetico di LACT (lecitina-colesterolo aciltransferasi; si veda questo termine), caratterizzata clinicamente da opacità corneali, e biochimicamente da una significativa riduzione del colesterolo HDL e da deficit parziale dell'enzima LCAT."},"nl":{"name":"Fish-eye ziekte","synonyms":["FED","Partiële LCAT-deficiëntie","Visoogziekte"],"definition":"Fish-eyeziekte (FED) is een vorm van genetische LCAT (lecithinecholesterolacyltransferase)-deficiëntie (zie deze term), klinisch gekenmerkt door opacificaties van de cornea en biochemisch gekenmerkt door een aanzienlijk verlaagd HDL-cholesterolgehalte en gedeeltelijke deficiëntie van het LCAT-enzym."},"pt":{"name":"Doença de olho de peixe","definition":"A doença do olho de peixe (FED) é uma forma genética de défice de LCAT (lecitina-colesterol aciltransferase) (ver este termo), caracterizada clinicamente por opacificações da córnea, e bioquimicamente por colesterol HDL significativamente reduzido e défice parcial da enzima LCAT."},"pl":{"name":"Choroba rybiego oka","synonyms":["Częściowy Niedobór LCAT","FED"]},"cs":{"name":"Nemoc rybích očí","synonyms":["FED","Parciální deficit LCAT"]},"uk":{"name":"Хвороба рибячого ока","synonyms":["FED","Часткова недостатність LCAT"],"definition":"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency."},"zh":{"name":"鱼眼病","synonyms":["部分LCAT缺陷"]},"tr":{"name":"Balık gözü hastalığı","synonyms":["FED","Kısmi LCAT eksikliği"]}},"xrefs":[{"source":"OMIM","code":"136120","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":"1737717544"},{"source":"MONDO","code":"0007620","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342895","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6450","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]}],"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"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}