{"orpha":35122,"name":"Congenital sucrase-isomaltase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CSID","Congenital sucrose intolerance","Disaccharide intolerance"],"definition":"A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35122/","orphanet_url":"https://www.orpha.net/en/disease/detail/35122","names":{"fr":{"name":"Déficit congénital en saccharase-isomaltase","synonyms":["CSID","DSIC","Intolérance aux disaccharides","Intolérance congénitale au saccharose"],"definition":"Trouble rare d'intolérance congénitale aux glucides d'origine génétique, caractérisé par l'absence d'activité de la sucrase endogène, une réduction marquée de l'activité de l'isomaltase et une diminution modérée de l'activité de la maltase, se manifestant sur le plan clinique par une diarrhée, des douleurs abdominales et des ballonnements, ainsi que par un retard de croissance."},"de":{"name":"Saccharase-Isomaltase-Mangel, kongenitaler","synonyms":["CSID","Disaccharid-Intoleranz","Kongenitale Saccharase-Isomaltase-Defizienz","Saccharoseintoleranz, kongenitale"],"definition":"Eine genetisch bedingte kongenitale Kohlenhydratintoleranz, die durch einen Mangel an endogener Sucrase-Aktivität, eine deutliche Verminderung der Isomaltase-Aktivität und eine mäßige Verminderung der Maltase-Aktivität gekennzeichnet ist und sich klinisch durch Durchfall, Bauchschmerzen und Blähungen sowie Gedeihstörungen äußert."},"es":{"name":"Deficiencia congénita de sacarasa-isomaltasa","synonyms":["CSID","Intolerancia a los disacáridos","Intolerancia congénita a la sacarosa"],"definition":"Es un trastorno congénito de intolerancia a los carbohidratos, de base genética y poco frecuente, caracterizado por falta de actividad de la sacarasa endógena, reducción significativa de la actividad de la isomaltasa y disminución moderada de la actividad de la maltasa, y que se manifiesta clínicamente con diarrea, dolor abdominal e hinchazón y fallo de medro."},"it":{"name":"Deficit congenito di sucrasi-isomaltasi","synonyms":["CSID","Intolleranza ai disaccaridi","Intollerenza congenita al sucrosio","Malassorbimento congenito di sucrasi-isomaltasi"],"definition":"Il deficit congenito di sucrasi-isomaltasi (CSID) è un'intolleranza congenita rara ai carboidrati, di origine genetica, caratterizzata dall'assenza dell'attività della sucrasi endogena, da una marcata riduzione dell'attività dell'isomaltasi e da una moderata riduzione dell'attività della maltasi. Dal punto di vista clinico, la malattia si manifesta con diarrea, dolore e gonfiore addominale, e ritardo della crescita."},"nl":{"name":"Congenitale deficiëntie van sucrase-isomaltase","synonyms":["CSID","Congenitale sucrose-intolerantie","Disacharide-intolerantie"],"definition":"Een zeldzame, genetische congenitale intolerantie voor koolhydraten, gekarakteriseerd door gebrek aan endogene activiteit van sucrase, aanzienlijk gereduceerde activiteit van isomaltase, en matige afname van activiteit van maltase, met diarree, abdominale pijn en opgeblazen gevoel, en groeifalen als klinische manifestaties."},"pt":{"name":"Intolerância aos dissacarídeos","synonyms":["Deficiência de sacarase e isomaltase"]},"pl":{"name":"Wrodzony Niedobór sacharazy-izomaltazy","synonyms":["CSID","Niedolerancja disacharydów","Wrodzona nietolerancja sacharozy","Wrodzone złe wchłanianie sacharazy-izomaltazy"]},"cs":{"name":"Vrozený deficit sacharázy-izomaltázy","synonyms":["CSID","Vrozená malabsorpce sacharózy-izomaltózy","Vrozená intolerance sacharózy","Intolerance disacharidů"]},"uk":{"name":"Вроджена недостатність сахарази-ізомальтази","synonyms":["Вроджена непереносимість сахарози","CSID","Непереносимість дисахаридів"],"definition":"A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive."},"zh":{"name":"先天性蔗糖酶异麦芽糖酶缺乏","synonyms":["先天蔗糖-异麦芽糖吸收不良"]},"tr":{"name":"Doğumsal sükraz-izomaltaz eksikliği","synonyms":["CSID","Disakkarit intoleransı","Doğumsal sükroz intoleransı","Doğumsal sükraz-izomaltoz malabsorpsiyonu"]}},"xrefs":[{"source":"OMIM","code":"222900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C61.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1817406536"},{"source":"MONDO","code":"0009114","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538139","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1283620","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7710","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":306436,"name":"OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance","status":"inactive"},{"type":"Referred to","orpha":306446,"name":"OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance","status":"inactive"},{"type":"Referred to","orpha":306462,"name":"OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance","status":"inactive"},{"type":"Referred to","orpha":306474,"name":"OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance","status":"inactive"},{"type":"Referred to","orpha":306486,"name":"OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance","status":"inactive"}],"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":"SI","name":"sucrase-isomaltase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10856","ensembl":"ENSG00000090402","omim":"609845","loci":["3q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-17","source":"26163121[PMID]_23103650[PMID]_33772704[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033589","label":"Flatulence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011848","label":"Abdominal colic","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very rare (<4-1%)","criteria":null}]}}