ORPHA:294415
Renal-hepatic-pancreatic dysplasia
Also known as: Ivemark II syndrome · Renohepaticopancreatic dysplasia
Clinical definition (Orphanet)
Renal-hepatic-pancreatic 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 (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 period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.
Is anyone studying this?
144
144 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
144 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
74 in the last 10 years · high confidence · 61.5th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
989
Distinct author names in 144 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Belmont JW3 papers · 2017
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 02Bergmann C3 papers · 2014
Bioscientia, Center for Human Genetics, Ingelheim, Germany; Department of Nephrology and Center for Clinical Research, University Hospital Freiburg, Freiburg, Germany.
Papers in Europe PMC - 03Devriendt K3 papers · 2012
Department of Paediatrics, University Hospital Leuven, Belgium.
Papers in Europe PMC - 04Guay-Woodford LM3 papers · 2014
Center for Translational Science, Children's National Health System, Washington, USA.
Papers in Europe PMC - 05Gunay-Aygun M3 papers · 2014
Department of Pediatrics, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Papers in Europe PMC - 06Johnson CA3 papers · 2016
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK. c.a.johnson@bham.ac.uk
Papers in Europe PMC - 07Raina R3 papers · 2024
Akron Nephrology Associates, Cleveland Clinic Akron General Medical Center, Akron, OH 44307, USA.
Papers in Europe PMC - 08Antignac C2 papers · 2021
INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France.
Papers in Europe PMC - 09Attié-Bitach T2 papers · 2021
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Papers in Europe PMC - 10Carles D2 papers · 2009
Service d'Anatomie Pathologique, UERSM III, Université de Bordeaux II, France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Renal-hepatic-pancreatic dysplasia" OR "Ivemark II syndrome" OR "Renohepaticopancreatic dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Renal-hepatic-pancreatic dysplasia" OR "Ivemark II syndrome" OR "Renohepaticopancreatic dysplasia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C2673883
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus