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Autosomal Recessive Polycystic Kidney Disease Mutation Database

Catalog of all changes detected in PKHD1 (Polycystic Kidney and Hepatic Disease 1) in a locus specific database. Investigators are invited to submit their novel data to this database. These data should be meaningful for clinical practice as well as of relevance for the reader interested in molecular aspects of polycystic kidney disease (PKD). There are also some links and information for ARPKD patients and their parents. Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. This study reports mutation screening in 90 ARPKD patients and identifies mutations in 110 alleles making up a detection rate of 61%. Thirty-four of the detected mutations have not been reported previously. Two underlying mutations in 40 patients and one mutation in 30 cases are disclosed, and no mutation was detected on the remaining chromosomes. Mutations were found to be scattered throughout the gene without evidence of clustering at specific sites. PKHD1 mutation analysis is a powerful tool to establish the molecular cause of ARPKD in a given family. Direct identification of mutations allows an unequivocal diagnosis and accurate genetic counseling even in families displaying diagnostic challenges.

URL: http://www.humgen.rwth-aachen.de/

Resource ID: nif-0000-21038     Resource Type: Resource     Version: Latest Version


clinical, gene, genetic, mutation, protein, recessive, renal

Old URLs





Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

Additional Resource Types

Database, Data Repository

Parent Organization


Permission required, Terms of use

Related Disease

Autosomal recessive polycystic kidney disease, Polycystic kidney disease



Original Submitter


Version Status


Submitted On

12:00am September 8, 2010

Originated From


Changes from Previous Version

  • Description was changed
  • Additional Resource Types was changed

Version 2

Created 2 months ago by Christie Wang

Version 1

Created 5 years ago by Anonymous