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Resource:Autosomal Recessive Polycystic Kidney Disease Mutation Database

Name: Resource:Autosomal Recessive Polycystic Kidney Disease Mutation Database
Description:

The overall aim of these studies is to understand the normal function of the PKD proteins and define the pathobiology associated with mutations so that rational therapies can be developed for these disorders in future years.
The Aachen research group uses a multidisciplinary approach to understand the genetic and cellular basis of polycystic kidney disease (PKD). The PKDs are a group of inherited disorders that result in renal cyst development often leading to end-stage renal disease. The group is primarily involved in the genetic, biochemical and cellular analysis of ARPKD.

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.
Other Name(s): ARPKD / PKHD1
Resource Type(s): database, clinical database
Resource: Resource
URL: http://www.humgen.rwth-aachen.de/index.asp?subform=database.html&nav=database_nav.html
Id: nif-0000-21038
Keywords: family, function, gene, gene-, genetic, autosomal, biochemical, cellular, cyst, development, diagnostic, disorder, mutation, or disease- specific databases, pathobiology, pkd, polycystic kidney disease, protein, recessive, renal, system-, therapy
Link to OWL / RDF: Download this content as OWL/RDF

Curation status: Curated

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Contributors

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Facts about Resource:Autosomal Recessive Polycystic Kidney Disease Mutation DatabaseRDF feed
CurationStatuscurated  +
DefiningCitationhttp://www.humgen.rwth-aachen.de/index.asp?subform=database.html&nav=database_nav.html  +
Definition

The overall aim of these studies i
The overall aim of these studies is to understand the normal function of the PKD proteins and define the pathobiology associated with mutations so that rational therapies can be developed for these disorders in future years.
The Aachen research group uses a multidisciplinary approach to understand the genetic and cellular basis of polycystic kidney disease (PKD). The PKDs are a group of inherited disorders that result in renal cyst development often leading to end-stage renal disease. The group is primarily involved in the genetic, biochemical and cellular analysis of ARPKD.

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.
es displaying diagnostic challenges.
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +, and Clinical database  +
Idnif-0000-21038  +
KeywordsFamily  +, Function  +, Gene  +, Gene-  +, Genetic  +, Autosomal  +, Biochemical  +, Cellular  +, Cyst  +, Development  +, Diagnostic  +, Disorder  +, Mutation  +, Or disease- specific databases  +, Pathobiology  +, Pkd  +, Polycystic kidney disease  +, Protein  +, Recessive  +, Renal  +, System-  +, and Therapy  +
LabelResource:Autosomal Recessive Polycystic Kidney Disease Mutation Database  +
ModifiedDate13 October 2010  +
SuperCategoryResource  +
SynonymARPKD / PKHD1  +