{"orpha":309031,"name":"Pancreatic triacylglycerol lipase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pancreatic triglyceride lipase deficiency"],"definition":"A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309031/","orphanet_url":"https://www.orpha.net/en/disease/detail/309031","names":{"fr":{"name":"Déficit en triacylglycérol lipase pancréatique","synonyms":["Déficit en triglycéride lipase pancréatique"],"definition":"Trouble rare du métabolisme des lipides d'origine génétique caractérisé par un trouble de l'absorption des graisses alimentaires avec une apparition entre la naissance et l'enfance, accompagné de selles grasses/huileuses et volumineuses, la croissance et le développement étant par ailleurs normaux. Une diminution des taux d'élastase fécale, ainsi que de faibles taux sériques de vitamines liposolubles A, D et E, ont été rapportés."},"de":{"name":"Triglycerid-Lipase-Mangel, pankreatischer","definition":"Eine seltene genetisch bedingte Fettstoffwechselstörung, die durch eine gestörte Absorption von Nahrungsfetten im Neugeborenen- und Kindesalter mit fettigen/öligen und voluminösen Stühlen, aber normalem Wachstum und normaler Entwicklung gekennzeichnet ist. Es wurde von erniedrigten Werten der fäkalen Elastase und niedrigen Serumspiegeln der fettlöslichen Vitamine A, D und E berichtet."},"es":{"name":"Deficiencia de triacilglicerol-lipasa pancreática","definition":"Es un trastorno del metabolismo lipídico de base genética y poco frecuente, caracterizado por una absorción alterada de las grasas ingeridas acompañada de heces voluminosas y grasosas/aceitosas de inicio neonatal o en la infancia, aunque con un crecimiento y un desarrollo normales. Se han descrito niveles reducidos de elastasa fecal, así como niveles séricos bajos de las vitaminas liposolubles A, D y E."},"it":{"name":"Deficit di triacilglicerolo lipasi pancreatica","definition":"Si tratta di una malattia genetica rara del metabolismo dei lipidi, che esordisce nel periodo neonatale o nell'infanzia con la compromissione dell'assorbimento dei grassi alimentari e feci grasse/oleose e voluminose; tuttavia, la crescita e lo sviluppo sono normali. Può associarsi a livelli ridotti di elastasi fecale e a bassi livelli sierici delle vitamine liposolubili A, D ed E."},"nl":{"name":"Deficiëntie van pancreatisch triacylglycerollipase","synonyms":["Deficiëntie van pancreatisch triglyceridelipase"],"definition":"Een zeldzame, genetische aandoening van metabolisme van lipiden, gekarakteriseerd door neonataal to in de kindertijd optredende verstoring van absorptie van vet uit voeding met vettige/olieachtige volumineuze stoelgang, maar normale groei en ontwikkeling. Verlaagd gehalte van elastase in feces, alsook lage gehaltes van vetoplosbare vitaminen A, D en E in serum werden ook reeds gerapporteerd."},"pt":{"name":"Défice da triacilglicerol lipase pancreática"},"pl":{"name":"Niedobór trzustkowej lipazy triglicerydów","synonyms":["Niedobór trzustkowej lipazy trójglicerydów"]},"cs":{"name":"Deficit pankreatické triacylglycerollipázy","synonyms":["Deficit pankreatické triglyceridlipázy"]},"uk":{"name":"Дефіцит панкреатичної триацилгліцеринової ліпази","synonyms":["Дефіцит панкреатичної тригліцеридліпази"],"definition":"A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported."},"zh":{"name":"胰三酰甘油脂酶缺乏","synonyms":["胰甘油三酯脂酶缺乏"]},"tr":{"name":"Pankreas triaçilgliserol lipaz eksikliği","synonyms":["Pankreatik trigliserid lipaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614338","qualifier":"E","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":"349070670"},{"source":"MONDO","code":"0013700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268240","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":["Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-04","source":"24262094[PMID]_31086851[PMID]_28727474[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004905","label":"Low levels of vitamin A","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011892","label":"Low levels of vitamin K","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012047","label":"Hemeralopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very rare (<4-1%)","criteria":null}]}}