{"orpha":53690,"name":"Congenital lactase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53690/","orphanet_url":"https://www.orpha.net/en/disease/detail/53690","names":{"fr":{"name":"Déficit congénital en lactase","definition":"Maladie gastro-intestinale rare et grave chez les nouveau-nés, rapportée principalement en Finlande, caractérisée sur le plan clinique par une diarrhée aqueuse chez les bébés nourris au lait maternel ou au lait maternisé contenant du lactose."},"de":{"name":"Laktase-Mangel, kongenitaler","definition":"Der Kongenitale Laktase-Mangel ist eine seltene, vor allem in Finnland auftretende schwere Erkrankung des Magen-Darm-Traktes von Neugeborenen. Bei Ernährung mit Brustmilch oder laktosehaltigen Präparaten entwickeln die Kinder wässrige Diarrhöen."},"es":{"name":"Deficiencia congénita de lactasa","definition":"El déficit congénito de lactasa es un raro trastorno gastrointestinal de recién nacidos, grave, y que ha sido descrito principalmente en Finlandia. Se caracteriza clínicamente por diarrea acuosa al alimentar con leche materna o con una fórmula que contenga lactasa."},"it":{"name":"Deficit congenito di lattasi","definition":"Il deficit congenito di lattasi è un raro disturbo gastrointestinale grave del neonato, descritto per la prima volta in Finlandia, caratterizzato clinicamente da diarrea acquosa dopo allattamento al seno o assunzione di latte in polvere contenente lattosio."},"nl":{"name":"Congenitale deficiëntie van lactase","definition":"Een zeldzame ernstige gastro-intestinale aandoening bij neonaten, vooral gerapporteerd in Finland, en klinisch gekenmerkt door waterige diarree na voeding met moedermelk of lactosehoudende flesvoeding."},"pt":{"name":"Deficiência de lactase congénita"},"pl":{"name":"Wrodzony Niedobór laktazy"},"cs":{"name":"Vrozený deficit laktázy","synonyms":["Vrozená laktózová intolerance"]},"uk":{"name":"Вроджена лактазна недостатність","definition":"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula."},"zh":{"name":"先天性乳糖酶缺乏"},"tr":{"name":"Doğumsal laktaz eksikliği"}},"xrefs":[{"source":"OMIM","code":"223000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E73.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C61.61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2109252471"},{"source":"MONDO","code":"0009115","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268179","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104006,"name":"Congenital intestinal disease due to an enzymatic defect","classifications":[152,156]},{"orpha":309001,"name":"Disorder of carbohydrate absorption and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"LCT","name":"lactase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16400612[PMID]","hgnc":"6530","ensembl":"ENSG00000115850","omim":"603202","loci":["2q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}