{"orpha":75233,"name":"Wolman disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75233/","orphanet_url":"https://www.orpha.net/en/disease/detail/75233","names":{"fr":{"name":"Maladie de Wolman","definition":"Forme grave de déficit en lipase d'acide lysosomal caractérisée par une accumulation lipidique à progression rapide dans les organes et les tissus, s'exprimant au cours de la période néonatale ou de la petite enfance par une hépatosplénomégalie massive, une insuffisance hépatique, une diarrhée/stéatorrhée et des vomissements."},"de":{"name":"Wolman-Krankheit","definition":"Eine schwere Form des lysosomalen sauren Lipasemangels, die durch eine rasch fortschreitende Lipidakkumulation in Organen und Geweben gekennzeichnet ist und in der Neugeborenen- oder Säuglingsperiode mit massiver Hepatosplenomegalie, Leberversagen, Durchfall/Steatorrhoe und Erbrechen auftritt."},"es":{"name":"Enfermedad de Wolman","definition":"Es una forma grave de deficiencia de lipasa ácida lisosomal caracterizada por un acúmulo de lípidos rápidamente progresivo en órganos y tejidos. La enfermedad debuta en el período neonatal o de lactancia con hepatoesplenomegalia masiva, insuficiencia hepática, diarrea/esteatorrea y vómitos."},"it":{"name":"Malattia di Wolman","definition":"Si tratta di una forma grave di deficit di lipasi acida lisosomiale, caratterizzata da un accumulo di lipidi a progressione rapida negli organi e nei tessuti, che si manifesta nel periodo neonatale o infantile con epatosplenomegalia marcata, insufficienza epatica, diarrea/steatorrea e vomito."},"nl":{"name":"Ziekte van Wolman","definition":"Een ernstige vorm van deficiëntie van lysosomale zure lipase, gekarakteriseerd door snel progressieve accumulatie van lipiden in organen en weefsels, en zich manifesterend in de neonatale of infantiele periode met massale hepatosplenomegalie, leverfalen, diarree/steatorroe en braken."},"pt":{"name":"Doença de Wolman","definition":"A doença de Wolman representa a manifestação mais grave de deficiência de lípase ácida lisossomal. Os fenótipos mais leves formam o grupo das doenças de armazenamento de ésteres do colesterol (ver este termo). A enzima lípase ácida desempenha um papel essencial na hidrólise lisossomal tanto do colesterol esterificado quanto dos triglicerídeos de origem lipoproteica. Na doença de Wolman, a forma mais rara de deficiência de lípase ácida, estes lipídeos acumulam-se na maioria dos tecidos."},"pl":{"name":"Choroba Wolmana"},"cs":{"name":"Wolmanova nemoc"},"uk":{"name":"Хвороба Вольмана","definition":"A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting."},"zh":{"name":"酸性脂酶缺乏症"},"tr":{"name":"Wolman hastalığı"}},"xrefs":[{"source":"OMIM","code":"620151","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"520367511"},{"source":"MONDO","code":"0019148","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015223","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043208","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7899","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053687","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":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26225414[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010512","label":"Adrenal calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004333","label":"Bone-marrow foam cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null}]}}