{"orpha":309108,"name":"Pancreatic colipase deficiency","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309108/","orphanet_url":"https://www.orpha.net/en/disease/detail/309108","names":{"fr":{"name":"Déficit en colipase pancréatique","definition":"Trouble rare du métabolisme des lipides caractérisé par l'apparition, pendant l'enfance, d'une stéatorrhée due à un déficit isolé en colipase pancréatique, en présence d'un taux normal d'enzymes pancréatiques exocrines. La formation précoce de calculs biliaires, ainsi qu'une carence en vitamine B12 associée à une anémie mégaloblastique, ont également été rapportées. Aucun cas n'a été décrit dans la littérature depuis 1982."},"de":{"name":"Colipase-Mangel","definition":"Eine seltene Störung des Fettstoffwechsels, die durch eine im Kindesalter auftretende Steatorrhoe aufgrund eines isolierten Pankreas-Colipase-Mangels gekennzeichnet ist, während andere exokrine Pankreasenzyme normal sind. Es wurde auch über eine frühe Bildung von Gallensteinen und einen Vitamin-B12-Mangel mit megaloblastischer Anämie berichtet. Seit 1982 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Deficiencia de colipasa pancreática","definition":"Es un trastorno poco frecuente del metabolismo de los lípidos caracterizado por el inicio de esteatorrea en la infancia debido a una deficiencia aislada de colipasa pancreática, mientras que el resto de enzimas pancreáticas exocrinas son normales. También se ha descrito la formación temprana de cálculos biliares, así como la deficiencia de vitamina B12 con anemia megaloblástica. No ha habido más descripciones en la literatura desde 1982."},"it":{"name":"Deficit di colipasi pancreatica","definition":"Si tratta di una malattia rara del metabolismo dei lipidi, che esordisce nell'infanzia con steatorrea secondaria al deficit isolato di colipasi pancreatica, mentre gli altri enzimi pancreatici esocrini sono normali. Può associarsi alla formazione precoce di calcoli biliari e alla carenza di vitamina B12 con anemia megaloblastica. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Deficiëntie van pancreatisch colipase","definition":"Een zeldzame aandoening van lipidemetabolisme, gekarakteriseerd door aanvang in de kindertijd van steatorroe door geïsoleerde deficiëntie van pancreatisch colipase, terwijl andere enzymen van de exocriene pancreas normaal zijn. Vroege vorming van galstenen, alsook vitamine B12-deficiëntie met megaloblastische anemie werden ook reeds gerapporteerd. Sinds 1982 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Défice de colipase pancreática"},"pl":{"name":"Niedobór kolipazy trzustkowej"},"cs":{"name":"Deficit pankreatické kolipázy"},"uk":{"name":"Дефіцит панкреатичної коліпази","definition":"A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982."},"zh":{"name":"胰复合脂酶缺乏"},"tr":{"name":"Pankreas 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":"index","validated":true,"icd11_uri":"11281354"},{"source":"MONDO","code":"0017711","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268241","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":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7068048[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7068048[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-03-21","source":"7068048[PMID]_5144703[PMID]_14169458[PMID]_6153713[PMID]","terms":[{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002630","label":"Fat malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Excluded (0%)","criteria":null}]}}