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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
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polycystic kidney 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

Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.

Synonyms

  • APKD1
  • PKD1
  • PKD1 autosomal dominant polycystic kidney disease
  • Potter type 3 polycystic kidney disease
  • Potter type 3 polycystic kidney disease, formerly
  • autosomal dominant polycystic kidney disease caused by mutation in PKD1
  • polycystic kidney disease 1
  • polycystic kidney disease 1 with or without polycystic liver disease
  • polycystic kidney disease type 1
  • polycystic kidney disease, adult
  • polycystic kidney disease, adult, type 1
  • polycystic kidney disease, adult, type I
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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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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