{"orpha":294415,"name":"Renal-hepatic-pancreatic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ivemark II syndrome","Renohepaticopancreatic dysplasia"],"definition":"Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294415/","orphanet_url":"https://www.orpha.net/en/disease/detail/294415","names":{"fr":{"name":"Dysplasie réno-hépato-pancréatique","synonyms":["Dysplasie réno-hépatico-pancréatique","Syndrome Ivemark II"],"definition":"La dysplasie réno-hépato-pancréatique est une anomalie génétique rare du développement, survenant au cours de l'embryogenèse. Elle se caractérise par la triade suivante : fibrose pancréatique (et kystes, avec une réduction du tissu parenchymateux), dysplasie rénale (avec kystes corticaux périphériques, tubes collecteurs primitifs, kystes glomérulaires et cartilage métaplasique), et dysgénésie hépatique (régions portales élargies contenant de nombreux profils binaires allongés, avec une tendance à la fibrose périlobulaire). Des anomalies de site ont aussi été associées, ainsi que des anomalies squelettiques et une anencéphalie. Les patients qui survivent au-delà de la période néonatale présentent une insuffisance rénale, un ictère chronique et un diabète insulino-dépendant."},"de":{"name":"Reno-hepato-pankreatische Dysplasie","synonyms":["Ivemark II-Syndrom"],"definition":"Ein seltener, genetisch bedingter syndromaler Entwicklungsdefekt während der Embryogenese, der durch die Trias von Pankreasfibrose (und Zysten, mit einer Reduktion des Parenchymgewebes), Nierendysplasie (mit peripheren kortikalen Zysten, primitiven Sammelgängen, glomerulären Zysten und metaplastischem Knorpel) und hepatischer Dysgenese (vergrößerte Portalbereiche mit zahlreichen verlängerten Binärprofilen mit einer Tendenz zur perilobulären Fibrose) gekennzeichnet ist. Situsanomalien, Skelettanomalien und Anenzephalie sind ebenfalls assoziiert worden. Patienten, die die Neugeborenenperiode überleben, zeigen Niereninsuffizienz, chronische Gelbsucht und insulinabhängigen Diabetes."},"es":{"name":"Displasia renal-hepática-pancreática","synonyms":["Displasia renohepaticopancreática","Síndrome de Ivemark II"],"definition":"La displasia renal-hepática-pancreática es un síndrome genético poco frecuente de defectos del desarrollo durante la embriogénesis caracterizado por la triada de fibrosis pancreática (y quistes, con reducción del tejido parenquimático), displasia renal (con quistes corticales periféricos, túbulos colectores primitivos, quistes glomerulares y cartílago metaplásico) y disgenesia hepática (triadas portales agrandadas conteniendo numerosos perfiles binarios alargados con tendencia a la fibrosis perilobular). También se ha asociado con anomalías del situs, anomalías esqueléticas y anencefalia. Los afectados que sobreviven al período neonatal presentan insuficiencia renal, ictericia crónica y diabetes insulino-dependiente."},"it":{"name":"Displasia renale-epatico-pancreatica","synonyms":["Displasia reno-epato-pancreatica","Sindrome di Ivemark II"],"definition":"La displasia renale-epatica-pancreatica è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dalla triade fibrosi pancreatica (associata a cisti e riduzione del tessuto parenchimale), displasia renale (con cisti corticali periferiche, dotti collettori primitivi, cisti glomerulari e cartilagine metaplastica) e disgenesia del fegato (allargamento delle aree portali contenenti numerosi profili binari allungati con tendenza alla fibrosi perilobulare). Possono associarsi anche anomalie del situs, anomalie scheletriche e anencefalia. I pazienti che superano il periodo neonatale presentano insufficienza renale, ittero cronico e diabete insulino-dipendente."},"nl":{"name":"Renale-hepatische-pancreatische dysplasie","synonyms":["Ivemark II-syndroom","Reno-hepatico-pancreatische dysplasie"],"definition":"Renale-hepatische-pancreatische dysplasie is een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese en wordt gekarakteriseerd door de triade van pancreatische fibrose (en cysten, met een vermindering van de hoeveelheid parenchymweefsel), renale dysplasie (met perifere corticale cysten, primitieve verzamelbuisjes, glomerulaire cysten en metaplastisch kraakbeen) en hepatische dysgenesie (vergrote portale gebieden die talrijke langgerekte binaire profielen bevatten met een neiging tot perilobulaire fibrose). De ziekte werd ook reeds geassocieerd met afwijkingen van de situs, skeletale anomalieën en anencefalie. Patiënten die de neonatale periode overleven, vertonen nierinsufficiëntie, chronische geelzucht en insuline-afhankelijke diabetes."},"pt":{"name":"Displasia renal-hepática-pancreática","synonyms":["Displasia renohepaticopancreática","Síndrome de Ivemark II"]},"pl":{"name":"Dysplazja nerkowo-wątrobowo-trzustkowa","synonyms":["Zespół Ivemarka II"]},"cs":{"name":"Ivemarkův syndrom, typ II","synonyms":["Dysplázie ledvin, jater a pankreatu","Renohepatopankreatická dysplázie"]},"uk":{"name":"Нирково-печінково-підшлункова дисплазія","synonyms":["Синдром Івемарка II","Реногепатопанкреатична дисплазія"],"definition":"Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes."},"zh":{"name":"肾-肝-胰发育不良","synonyms":["肾肝胰发育不良"],"definition":"肾-肝-胰发育不良是胚胎发生综合征中一种罕见的遗传性发育缺陷，其特征是胰腺纤维化（囊肿，实质组织减少）、肾发育不良（伴周围皮质囊肿、原始集合管、肾小球囊肿和化生软骨）和肝发育不全（门静脉区域扩大、胆管板畸形，伴小叶周围纤维化）。本病也与内脏反位和骨骼异常有关。新生儿期存活的患者出现肾功能不全、慢性黄疸和胰岛素依赖性糖尿病。"},"tr":{"name":"Böbrek-hepatik-pankreatik displazisi","synonyms":["Ivemark II sendromu","Renohepatikpankreatik displazi"]}},"xrefs":[{"source":"OMIM","code":"208540","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615415","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":"0017417","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156180,"name":"Retinal ciliopathy due to mutation in nephronophthisis gene","classifications":[156]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[],"genes":[{"symbol":"NEK8","name":"NIMA related kinase 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23418306[PMID]","hgnc":"13387","ensembl":"ENSG00000160602","omim":"609799","loci":["17q11.2"]},{"symbol":"NPHP3","name":"nephrocystin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20007846[PMID]_18371931[PMID]","hgnc":"7907","ensembl":"ENSG00000113971","omim":"608002","loci":["3q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-17","source":"17605805[PMID]_32341812[PMID]_32714619[PMID]_36253741[PMID]_36756677[PMID]","terms":[{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030146","label":"Abnormal liver parenchyma morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030992","label":"Abnormal pancreatic duct morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031956","label":"Elevated circulating aspartate aminotransferase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006566","label":"Neonatal cholestatic liver disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005232","label":"Pancreatic dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100732","label":"Pancreatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001407","label":"Hepatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410288","label":"Hyperamylasemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033478","label":"Increased circulating lipoprotein lipase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}