RWTH Aachen University
Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
Department of Human Genetics, RWTH Aachen University, Pauwelsstraße 30, D-52074 Aachen, Germany


It has been crucial to catalogue all changes detected in the PKHD1 gene in a locus specific database to provide the users with information on all known variants and therefore to facilitate the characterization of detected PKHD1 variants. It has been set up to be a collection of all variants in this gene, whether they are likely disease causing or not.

Terms Of Use

Please note that although we are validating the content of this database very carefully, it cannot be guaranteed that the information in particular concerning the pathogenicity of the reported changes is correct. Therefore the data should be treated with extreme caution (especially information about missense and intronic changes) regarding clinical recommendations. Furthermore we are not responsible for the accuracy of the in-silico analyses and the assumed data from the literature. We make no claims for this database to be complete.

Contributing Authors Rights & Data Use

The unpublished data within the database have to be treated as reserved information. These data should not be used without the permission of the contributing author.

The PKHD1 database should be cited (URL: in any publication arising from the use of the database.


This database was designed and developed by the following people:

Current release of the website:

  • The database is no longer currated and has not been updated since 2014, please contact in case of any further questions

Previous release of the website (until 2014):

  • Curation and Content:
    Dr. Nadina Ortiz Brüchle, DVM; Prof. Dr. Klaus Zerres, MD
  • Programming and Design:
    Florian Krebs
  • Technical assistance:
    Andreas Boblenz
  • Parts of the Content:
    Isabel Rieck, Dr. Andreas Venghaus
  • Special thanks to:
    our technical staff for producing all the data.
  • Thanks to:
    the RWTH-Rechenzentrum for providing us with the webspace.

Content of the previous website:

  • Prof. Dr. Carsten Bergmann, MD


By entering this database you agree to the terms of use and have noted that we are not responsable for any misuse of the data concerning clinical recommendations.


Database News Ticker:

new records:

  • new entries august 2013
  • new entries march 2012
  • new entries from online submission 2010
  • over 100 new entries extracted from the literature and identified by our group


  • new features available: rs-number according dbSNP137, MAF, evolutionary conservation among 6 species, expected pathogenicity according to the literature
  • in silico pathogenicity evaluation of missense mutations by PolyPhen2 and  MutationTaster

cited in:

  • Denamur et al.; Kidney Int 2010 Feb;77(4):350-8
  • Gunay-Aygun et al.; Mol Genet Metab. 2010 Feb;99(2):160-73

© Copyright Department of Human Genetics, RWTH Aachen University
Use or publication of any data on this website requires the curator's permission.