{"orpha":75234,"name":"Cholesteryl ester storage disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cholesterol ester storage disease"],"definition":"A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75234/","orphanet_url":"https://www.orpha.net/en/disease/detail/75234","names":{"fr":{"name":"Maladie de stockage des esters du cholestérol","synonyms":["Maladie de surcharge en cholestérol estérifié"],"definition":"Forme rare de déficit en lipase acide lysosomale caractérisée par l'accumulation progressive d'esters de cholestérol et de triglycérides dans les tissus et organes présentant typiquement une hépatosplénomégalie, un dysfonctionnement hépatique et/ou une dyslipidémie."},"de":{"name":"Cholesterinester-Speicherkrankheit","definition":"Eine Form des Mangels der lysosomalen Sauren Lipase, die durch eine fortschreitende Anhäufung von Cholesterinestern und Triglyceriden in Geweben und Organen gekennzeichnet ist und typischerweise mit Hepatosplenomegalie, Leberdysfunktion und/oder Dyslipidämie einhergeht."},"es":{"name":"Enfermedad por almacenamiento de ésteres de colesterol","synonyms":["Enfermedad de acumulación de colesterol éster"],"definition":"Es una forma de deficiencia de lipasa ácida lisosomal caracterizada por el acúmulo progresivo de ésteres de colesterol y triglicéridos en tejidos y órganos, que se presenta típicamente con hepatoesplenomegalia, disfunción hepática y/o dislipidemia."},"it":{"name":"Malattia da accumulo degli esteri del colesterolo","definition":"Si tratta di un deficit di lipasi acida lisosomiale, caratterizzato da un accumulo progressivo degli esteri del colesterolo e dei trigliceridi nei tessuti e negli organi, che di solito si manifesta con epatosplenomegalia, disfunzione epatica e/o dislipidemia."},"nl":{"name":"Cholesterylesterstapelingsziekte","synonyms":["Cholesterolesterstapelingsziekte"],"definition":"Een vorm van deficiëntie van lysosomale zure lipase, gekarakteriseerd door progressieve accumulatie van cholesterolesters en triglyceriden in weefsels en organen, wat zich doorgaans manifesteert met hepatosplenomegalie, leverdisfunctie en/of dyslipidemie."},"pt":{"name":"Doença de armazenamento de ésteres de colesterol"},"pl":{"name":"Choroba spichrzania estrów cholesterolu","synonyms":["Choroba spichrzania estrów cholesterolu"]},"cs":{"name":"Nemoc ze střádání cholesteryl esteru","synonyms":["Nemoc ze střádání esteru cholesterolu"]},"uk":{"name":"Хвороба накопичення ефірів холестерину","synonyms":["Хвороба накопичення ефірів холестерину"],"definition":"A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."},"zh":{"name":"胆固醇酯贮积病","synonyms":["胆固醇酯贮积病"]},"tr":{"name":"Kolesteril ester depo hastalığı","synonyms":["Kolesterol ester depo hastalığı"]}},"xrefs":[{"source":"OMIM","code":"278000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"894336362"},{"source":"MONDO","code":"0019149","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015217","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008384","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":275761,"name":"Lysosomal acid lipase deficiency","classifications":[150,156,183,193,233]}],"children":[],"genes":[{"symbol":"LIPA","name":"lipase A, lysosomal acid type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22227072[PMID]_26225414[PMID]","hgnc":"6617","ensembl":"ENSG00000107798","omim":"613497","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Germany","status":"Validated","source":"17634524[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Specific population","status":"Validated","source":"23424026[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"25852113[PMID]","terms":[{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002634","label":"Arteriosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010512","label":"Adrenal calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null}]}}