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polycystic liver disease 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.


Synonyms

  • ADPCLD
  • PCLD
  • PCLD1
  • autosomal dominant polycystic liver disease
  • isolated autosomal dominant polycystic liver disease
  • isolated congenital polycystic liver disease
  • isolated polycystic liver disease
  • nonsyndromic congenital polycystic liver disease
  • nonsyndromic polycystic liver disease (disease)
  • polycystic liver disease
  • polycystic liver disease 1
  • polycystic liver disease 1 with or without kidney cysts

OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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