{"orpha":2255,"name":"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PACHD","Pancreatic agenesis and congenital heart defects syndrome","Yorifuji-Okuno syndrome"],"definition":"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2255/","orphanet_url":"https://www.orpha.net/en/disease/detail/2255","names":{"fr":{"name":"Syndrome d'hypoplasie pancréatique-diabète-cardiopathie congénitale","synonyms":["Syndrome de Yorifuji-Okuno"],"definition":"Le syndrome d'hypoplasie pancréatique-diabète-cardiopathie congénitale est caractérisé par l'association d'une agénésie pancréatique partielle avec diabète sucré et d'anomalies cardiaques congénitales (incluant une transposition des gros vaisseaux, une communication interventriculaire et une communication interauriculaire, une sténose pulmonaire, ou un canal artériel persistant)."},"de":{"name":"Pankreashypoplasie-Diabetes-kongenitaler Herzfehler-Syndrom","synonyms":["Syndrom der Pankreas-Hypoplasie mit Diabetes mellitus und angeborenem Herzfehler","Yorifuji-Okuno-Syndrom"],"definition":"Dieses Syndrom ist charakterisiert durch partielle Pankreasagenesie, Diabetes mellitus und Herzanomalien (einschließlich Transposition der großen Gefäße, ventrikuläre oder atriale Septumdefekte, Pulmonalstenose oder persistierender Ductus arteriosus)."},"es":{"name":"Síndrome de hipoplasia pancreática-diabetes-cardiopatía congénita","synonyms":["Síndrome de Yorifuji-Okuno"],"definition":"Es un tipo de diabetes mellitus sindrómica poco frecuente caracterizada por agenesia pancreática parcial, diabetes mellitus y anomalías cardíacas (incluyendo la transposición de grandes vasos, en los septos ventricular o atrial, estenosis pulmonar, o ductus arterioso persistente)."},"it":{"name":"Ipoplasia pancreatica - diabete - cardiopatia congenita","synonyms":["Sindrome di Yorifuji-Okuno"]},"nl":{"name":"Hypoplasie van pancreas - diabetes - congenitale hartziekte-syndroom","synonyms":["Syndroom van Yorifuji-Okuno"],"definition":"Een zeldzame, syndromale diabetes mellitus, gekenmerkt door partiële agenesie van pancreas, diabetes mellitus, en hartanomalieën (waaronder transpositie van grote bloedvaten, ventrikel- of atriumseptumdefecten, pulmonalisklepstenose, of persisterende ductus arteriosus)."},"pt":{"name":"Síndrome de hipoplasia pancreática-diabetes-cardiopatia congénita","synonyms":["Síndrome Yorifuji-Okuno"]},"pl":{"name":"Hipoplazja trzustki - cukrzyca - wrodzona choroba serca","synonyms":["Zespół Yorifuji i Okuno syndrome"]},"cs":{"name":"Syndrom zahrnující hypoplázii pankreatu, diabetes a vrozenou vadu srdce","synonyms":["Yorifujiho-Okunoův syndrom","Yorifuji-Okunoův syndrom"]},"uk":{"name":"Синдром гіпоплазії підшлункової залози-діабету-вроджених вад серця","synonyms":["PACHD","Синдром панкреатичної агенезії та вроджених вад серця","Синдром Йоріфуджі-Окуно"],"definition":"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)."},"zh":{"name":"胰腺发育不全-糖尿病-先天性心脏病综合征","synonyms":["Yorifuji-Okuno综合征"]},"tr":{"name":"Pankreas hipoplazisi-diyabet-doğumsal kalp hastalığı sendromu","synonyms":["Yorifuji-Okuno sendromu"]}},"xrefs":[{"source":"OMIM","code":"600001","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB60.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010802","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536714","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931296","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"347","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22158542[PMID]_22962692[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-23","source":"20082465[PMID]_23639568[PMID]_24310933[PMID]_22962692[PMID]_8071961[PMID]_22158542[PMID]","terms":[{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000857","label":"Neonatal insulin-dependent diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100801","label":"Pancreatic aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002594","label":"Pancreatic hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011581","label":"Double outlet left ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004762","label":"Hypoplasia of right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011573","label":"Hypoplastic tricuspid valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010626","label":"Anterior pituitary agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011466","label":"Aplasia/Hypoplasia of the gallbladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005912","label":"Biliary atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000891","label":"Cervical ribs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011628","label":"Congenital defect of the pericardium","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Very rare (<4-1%)","criteria":null}]}}