Orphanet: Renal hepatic pancreatic dysplasia

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Renal-hepatic-pancreatic dysplasia

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Ivemark II syndrome
    • Renohepaticopancreatic dysplasia
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q45.8
  • OMIM: 208540  615415
  • UMLS: C2673883
  • MeSH: -
  • GARD: -
  • MedDRA: -
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