{"orpha":103909,"name":"Trehalase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated trehalose intolerance"],"definition":"A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-103909/","orphanet_url":"https://www.orpha.net/en/disease/detail/103909","names":{"fr":{"name":"Déficit en tréhalase","synonyms":["Intolérance isolée au tréhalose"],"definition":"Maladie intestinale rare caractérisée par une diarrhée osmotique, des douleurs abdominales et une augmentation des flatulences après l'ingestion de tréhalose, un disaccharide présent principalement dans les champignons, en raison d'un déficit en tréhalase intestinale. Elle touche principalement la population du Groenland, bien que des cas aient également été rapportés dans d'autres régions du monde."},"de":{"name":"Trehalase-Mangel","synonyms":["Trehalose-Intoleranz, isolierte"],"definition":"Eine seltene, genetisch bedingte Darmerkrankung, die durch osmotischen Durchfall, Bauchschmerzen und verstärkte rektale Blähungen nach dem Verzehr von Trehalose, einem Disaccharid, das vor allem in Pilzen vorkommt, gekennzeichnet ist. In den meisten Populationen ist die Krankheit extrem selten, in Grönland dagegen ist 1 von 13 Personen betroffen. Die isolierte Trehalose-Intoleranz ist durch den intestinalen Trehalase-Mangel (<I>TREH</I>, 11q23.3), einem Glykoprotein der Bürstensaum-Membran, bedingt."},"es":{"name":"Deficiencia de trehalasa","synonyms":["Intolerancia a la trehalosa aislada","Intolerancia aislada a la trehalosa"],"definition":"Es una enfermedad intestinal, de origen genético y poco frecuente, caracterizada por diarrea osmótica, dolor abdominal y meteorismo después de la ingestión de trehalosa, un disacárido que se encuentra principalmente en las setas, debido a la deficiencia de trehalasa intestinal. Afecta principalmente a la población de Groenlandia, aunque también se han descrito casos en otras regiones."},"it":{"name":"Deficit di trealasi","synonyms":["Intolleranza isolata al trealosio"],"definition":"Si tratta di una malattia intestinale genetica rara, caratterizzata da diarrea osmotica, dolore addominale e aumento della flatulenza rettale dopo l'ingestione di trealosio (un disaccaride che si trova per lo più nei funghi), che è causata da un deficit di trealasi nell'intestino. Si osserva soprattutto nella popolazione della Groenlandia, ma sono stati descritti casi anche in altre parti del mondo."},"nl":{"name":"Trehalasedeficiëntie","synonyms":["Geïsoleerde trehalose-intolerantie"],"definition":"Een zeldzame, genetische darmziekte gekarakteriseerd door osmotische diarree, buikpijn en verhoogde rectale flatulentie na inname van trehalose, een disaccharide dat voornamelijk in paddenstoel wordt aangetroffen, als gevolg van intestinale trehalasedeficiëntie. Het komt voornamelijk voor in de populatie van Groenland, hoewel elders ook gevallen werden gerapporteerd."},"pt":{"name":"Deficiência de trehalase","definition":"Esta síndrome é caracterizada por diarréia e vómito após ingestão de trehalose, um dissacarídeo encontrado principalmente em cogumelos."},"pl":{"name":"Biegunka-wymioty z powodu niedoboru trehalazy","synonyms":["Izolowana nietolerancja trehalozy"]},"cs":{"name":"Průjmové zvracení způsobené deficitem trehalázy","synonyms":["Izolovaná intolerance trehalózy"]},"uk":{"name":"Дефіцит трегалази","synonyms":["Ізольована непереносимість трегалози"],"definition":"A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere."},"zh":{"name":"海藻糖酶缺乏症","synonyms":["孤立性海藻糖不耐受"],"definition":"海藻糖酶缺乏症是一种罕见的遗传性肠道疾病，患者由于缺乏肠道海藻酶，摄入海藻糖（主要存在在蘑菇中的一种双糖）后引起渗透性腹泻、腹痛和直肠胀气增加。它主要发生在格陵兰人口中，尽管其他地方也有病例报告。"},"tr":{"name":"Trehalaz eksikliği","synonyms":["İzole trehaloz intoleransı"]}},"xrefs":[{"source":"OMIM","code":"612119","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C61.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2025219157"},{"source":"MONDO","code":"0012803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562603","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268187","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10372","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":"TREH","name":"trehalase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":null,"hgnc":"12266","ensembl":"ENSG00000118094","omim":"275360","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":">1 / 1000","value":7700.0,"area":"Greenland","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-17","source":"3227291[PMID]_4737205[PMID]_10522609[PMID]_24443064[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}