{"orpha":293864,"name":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293864/","orphanet_url":"https://www.orpha.net/en/disease/detail/293864","names":{"fr":{"name":"Syndrome d'hypoplasie du pancréas-atrésie intestinale-hypoplasie de la vésicule biliaire","definition":"Malformation viscérale syndromique rare et potentiellement fatale d'origine génétique caractérisée par un diabète néonatal, un pancréas hypoplastique ou annulaire, une atrésie duodénale et jéjunale, ainsi qu'une aplasie ou une hypoplasie de la vésicule biliaire. Les patients présentent généralement un retard de croissance intra-utérin, un retard de croissance staturo-pondérale, une malnutrition, une malrotation intestinale, une malabsorption, une hyperbilirubinémie conjuguée, une acholie et des infections. Des anomalies cardiaques peuvent également être associées."},"de":{"name":"Hypoplastischer Pankreas-Intestinalatresie-Hypoplastische Gallenblase-Syndrom"},"es":{"name":"Síndrome de hipoplasia del páncreas-atresia intestinal-hipoplasia de la vesícula biliar","definition":"Es un síndrome de malformación visceral, genético, poco frecuente y potencialmente mortal, caracterizado por diabetes neonatal, páncreas hipoplásico o anular, atresia duodenal y yeyunal, así como aplasia o hipoplasia de la vesícula biliar. Los afectados suelen presentar retraso del crecimiento intrauterino, fallo de medro, malnutrición, malrotación intestinal, malabsorción, hiperbilirrubinemia conjugada, acolia e infecciones. También puede tener asociadas anomalías cardíacas."},"it":{"name":"Sindrome da ipoplasia del pancreas e della cistifellea ed atresia intestinale","definition":"Sindrome che associa l'ipoplasia del pancreas e della cistifellea e l'atresia intestinale è una malformazione viscerale genetica rara, potenzialmente letale, caratterizzata da diabete neonatale, pancreas ipoplasico o anulare, atresia del duodeno e del digiuno, ed aplasia o ipoplasia della cistifellea. Di solito i pazienti presentano ritardo della crescita pre- e post-natale, malnutrizione, malrotazione dell'intestino, malassorbimento, iperbilirubinemia coniugata, acolia ed infezioni. Può associarsi a cardiopatie."},"nl":{"name":"Hypoplastische pancreas - intestinale atresie - hypoplastische galblaas-syndroom","definition":"Hypoplastische pancreas - intestinale atresie - hypoplastische galblaas-syndroom is een zeldzaam, potentieel fataal, genetisch, visceraal malformatiesyndroom dat gekarakteriseerd wordt door neonatale diabetes, hypoplastische of annulaire pancreas, atresie van duodenum en jejunum, alsook aplasie of hypoplasie van de galblaas. Patiënten vertonen doorgaans intra-uteriene groeirestrictie, groeiachterstand, malnutritie, intestinale malrotatie, malabsorptie, geconjugeerde hyperbilirubinemie, acholie en infecties. Hartanomalieën kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome pâncreas hipoplásico - atresia intestinal - bexiga hipoplásica"},"pl":{"name":"Zespół niedorozwoju trzustki, pęcherzyka żółciowego i atrezji jelit","definition":"*Zespół niedorozwoju trzustki, pęcherzyka żółciowego i atrezji jelit jest rzadkim, potencjalnie śmiertelnym, genetycznie uwarunkowanym zespołem wad wrodzonych układu pokarmowego, który charakteryzuje się cukrzycą noworodkową, hipoplastyczną lub pierścieniowatą trzustką, atrezją dwunastnicy i jelita czczego, a także aplazją lub hipoplazją pęcherzyka żółciowego. Często obserwuje się zahamowanie wzrastania wewnątrzmacicznego, brak prawidłowego rozwoju, niedożywienie, nieprawidłowy zwrot jelit, zaburzenia wchłaniania, wzrost bilirubiny związanej, acholia (brak żółci) i infekcje. Mogą również wystąpić wady serca."},"cs":{"name":"Syndrom zahrnující hypoplázii pankreatu, střevní atrézii a hypoplastický žlučník"},"uk":{"name":"Синдром гіпопластичної підшлункової залози-атрезії кишечника-гіпопластичного жовчного міхура","definition":"A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated."},"zh":{"name":"胰腺发育不良-肠闭锁-胆囊发育不良综合征","definition":"胰腺发育不良-肠闭锁-胆囊发育不良综合征是一种罕见的、潜在致命的遗传性内脏畸形综合征，其特征为新生儿糖尿病、胰腺发育不良或环状胰腺、十二指肠和空肠闭锁及胆囊发育不全或发育不良。患者常表现为宫内生长受限、生长发育不良、营养不良、肠旋转不良、吸收不良、合并高胆红素血症、胆汁淤积和感染。也可能与心脏异常有关。"},"tr":{"name":"Hipoplastik pankreas-intestinal atrezi-hipoplastik safra kesesi sendromu"}},"xrefs":[{"source":"OMIM","code":"615710","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q45.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751130","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5237","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":137862,"name":"Martínez-Frías syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498350,"name":"Syndromic biliary atresia","classifications":[183]},{"orpha":108969,"name":"Syndromic intestinal malformation","classifications":[147,156,182,233]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[],"genes":[{"symbol":"RFX6","name":"regulatory factor X6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21965172[PMID]","hgnc":"21478","ensembl":"ENSG00000185002","omim":"612659","loci":["6q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"21965172[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}