renal-hepatic-pancreatic dysplasia
ORPHA: 294415
Overview
physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with renal-hepatic-pancreatic dysplasia, sourced from HPO and Orphanet clinical annotations.
Renal dysplasiaHepatomegalyRenal insufficiencyEnlarged kidneyRenal cystOligohydramniosNeonatal respiratory distressHyperbilirubinemiaPancreatic dysplasiaNeonatal cholestatic liver diseaseAbnormal liver parenchyma morphologyElevated gamma-glutamyltransferase levelAbnormal pancreatic duct morphologyElevated circulating aspartate aminotransferase concentrationElevated circulating alanine aminotransferase concentrationType I diabetes mellitusPancreatic fibrosisRenal agenesisJaundiceCirrhosisHepatic fibrosisHepatic cystsPulmonic stenosisPatent ductus arteriosusAortic valve stenosisPancreatic cystsSplenomegalyAspleniaNonimmune hydrops fetalisPulmonary hypoplasiaAbnormal form of the vertebral bodiesElevated pulmonary artery pressureIncreased circulating lipoprotein lipase concentrationHyperamylasemia
Classification & Codes
Orphanet Code
ORPHA:294415renal-hepatic-pancreatic dysplasia
| Orphanet | ORPHA:294415 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO