{"orpha":2805,"name":"Partial pancreatic agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital pancreatic agenesis","Partial agenesis of the pancreas"],"definition":"Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2805/","orphanet_url":"https://www.orpha.net/en/disease/detail/2805","names":{"fr":{"name":"Agénésie partielle du pancréas","synonyms":["Agénésie congénitale du pancréas"],"definition":"L'agénésie partielle du pancréas est l'absence d'une quantité critique de tissu pancréatique."},"de":{"name":"Pankreasagenesie, partielle","synonyms":["Pankreasagenesie, kongenitale"],"definition":"Die Partielle Pankreasagenesie ist gekennzeichnet durch das angeborene Fehlen einer kritischen Masse von Pankreasgewebe."},"es":{"name":"Agenesia pancreática parcial","synonyms":["Agenesia pancreática congénita","Agenesia parcial del páncreas"],"definition":"La agenesia parcial de páncreas se caracteriza por la ausencia congénita de una masa crítica de tejido pancreático."},"it":{"name":"Agenesia pancreatica parziale","synonyms":["Agenesia congenita del pancreas","Agenesia parziale del pancreas"]},"nl":{"name":"Partiële pancreatische agenesie","synonyms":["Congenitaie pancreatische agenesie","Partiële agenesie van alvleesklier","Partiële agenesie van pancreas"],"definition":"Partiële agenesie van pancreas wordt gekenmerkt door congenitale afwezigheid van een kritieke massa pancreasweefsel."},"pt":{"name":"Agenesia pancreática parcial","synonyms":["Agenesia do pâncreas parcial","Agenesia pancreática congénita"]},"pl":{"name":"Częściowa agnezja trzustki","synonyms":["Częściowa agnezja trzustki","Wrodzona agnezja trzustki"]},"cs":{"name":"Parciální pankreatická ageneze","synonyms":["Vrozená ageneze pankreatu","Parciální ageneze pankreatu"]},"uk":{"name":"Часткова агенезія підшлункової залози","synonyms":["Вроджена патологія підшлункової залози","Часткова агенезія підшлункової залози"],"definition":"Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue."},"zh":{"name":"胰腺部分发育不全","synonyms":["胰腺部分发育不全"]},"tr":{"name":"Kısmi pankreas agenezi","synonyms":["Doğumsal pankreas agenezi","Pankreasın kısmi agenezi"]}},"xrefs":[{"source":"OMIM","code":"167755","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"260370","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615935","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q45.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB21.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"634711891"},{"source":"UMLS","code":"C4305001","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4203","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"PDX1","name":"pancreatic and duodenal homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8988180[PMID]","hgnc":"6107","ensembl":"ENSG00000139515","omim":"600733","loci":["13q12.2"]},{"symbol":"PTF1A","name":"pancreas associated transcription factor 1a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24212882[PMID]","hgnc":"23734","ensembl":"ENSG00000168267","omim":"607194","loci":["10p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"8988180[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}