renal-hepatic-pancreatic dysplasia
Findings
No curated finding names renal-hepatic-pancreatic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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 tendency 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-dependant diabetes.
Definition from the Mondo Disease Ontology (MONDO:0017417), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Renal dysplasiaHPOHP:0000110
- Very frequent (80% to 99% of cases)
- Abnormal liver parenchyma morphologyHPOHP:0030146
- Frequent (30% to 79% of cases)
- Abnormal pancreatic duct morphologyHPOHP:0030992
- Frequent (30% to 79% of cases)
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- Frequent (30% to 79% of cases)
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- Frequent (30% to 79% of cases)
Show the remaining 22
- Pancreatic dysplasiaHPOHP:0005232
- Frequent (30% to 79% of cases)
- Pancreatic fibrosisHPOHP:0100732
- Frequent (30% to 79% of cases)
- Renal cystHPOHP:0000107
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Type I diabetes mellitusHPOHP:0100651
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: renal-hepatic-pancreatic dysplasia
- Also called
- Ivemark II syndromeRenohepaticopancreatic dysplasia