{"orpha":309111,"name":"Combined pancreatic lipase-colipase deficiency","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309111/","orphanet_url":"https://www.orpha.net/en/disease/detail/309111","names":{"fr":{"name":"Déficit combiné en lipase-colipase pancréatique","definition":"Le déficit combiné en lipase-colipase pancréatique est un trouble de l'absorption et du transport lipidiques caractérisé par une stéatorrhée à la naissance avec des selles à l'odeur nauséabonde, une diminution des taux sériques de carotène et de vitamine E, et un déficit combiné en enzymes pancréatiques lipase et colipase. A l'exception de ces signes, les patients sont en bonne santé et se développent normalement, sans maladie pancréatique apparente. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1990."},"de":{"name":"Kombinierter Lipase-Colipase-Mangel des Pankreas","definition":"Der kombinierte Bauchspeicheldrüsen-Lipase-Colipase-Mangel ist eine Störung der Lipidabsorption und des Transports, die durch Steatorrhö mit von Geburt an übelriechendem Stuhl, vermindertem Serum-Carotin und Vitamin E und einem kombinierten Mangel an den Pankreasenzymen Lipase und Colipase gekennzeichnet ist. Die Patienten sind ansonsten gesund und entwickeln sich normal ohne erkennbare Bauchspeicheldrüsenerkrankung. Seit 1990 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Deficiencia pancreática combinada de lipasa-colipasa","definition":"La deficiencia combinada de lipasa-colipasa pancreática es un trastorno de absorción y transporte de lípidos caracterizada por esteatorrea con heces de olor fétido desde el nacimiento, descenso de los niveles de caroteno y vitamina E en suero y deficiencia combinada de las enzimas pancreáticas lipasa y colipasa. Los pacientes, por otro lado, son sanos y presentan un desarrollo normal, con aparente ausencia de enfermedad pancreática. No se han descrito nuevos casos de esta enfermedad desde 1990."},"it":{"name":"Deficit combinato di lipasi-colipasi pancreatica","definition":"Il deficit combinato di lipasi-colipasi pancreatica è una malattia dell'assorbimento e del trasporto dei lipidi, caratterizzata da steatorrea con feci maleodoranti sin dalla nascita, diminuzione dei livelli di carotene e vitamina E nel siero e deficit combinato degli enzimi pancreatici lipasi e colipasi. Per il resto, i pazienti sono sani; lo sviluppo è normale senza evidenti malattie pancreatiche. Non sono stati descritti nuovi casi dopo il 1990."},"nl":{"name":"Gecombineerde deficiëntie van pancreatisch lipase-colipase","definition":"Gecombineerde pancreatische lipase-colipasedeficiëntie is een stoornis van de opname en het transport van lipiden die wordt gekarakteriseerd door steatorroe met slecht ruikende stoelgang vanaf de geboorte, verminderde gehaltes caroteen en vitamine E in het serum, en een gecombineerde deficiëntie van de pancreasenzymen lipase en colipase. Voorts zijn de patiënten gezond en vertonen ze een normale ontwikkeling zonder zichtbare pancreasziekte. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Défice combinado da lípase - colipase pancreática"},"pl":{"name":"Złożony Niedobór lipazy-kolipazy trzustkowej"},"cs":{"name":"Kombinovaný deficit pankreatické lipázy a kolipázy"},"uk":{"name":"Комбінована панкреатична ліпазо-коліпазна недостатність","definition":"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990."},"zh":{"name":"胰脂酶联合大肠酶缺乏症","definition":"胰脂酶-大肠酶联合缺乏症是一种脂类吸收和转运障碍，其特征是脂肪过多，出生时便有异味，血清胡萝卜素和维生素E减少，胰脂肪酶和大肠酶联合缺乏。患者其他方面无异常，发育正常，没有明显的胰腺疾病。自1990年以来，没有进一步的文献报道。"},"tr":{"name":"Kombine pankreas lipaz-kolipaz eksikliği"}},"xrefs":[{"source":"OMIM","code":"614338","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C62","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017712","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706317","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309028,"name":"Disorder of lipid absorption and transport","classifications":[150,152,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"2265786[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2265786[PMID]"}],"phenotypes":null}