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Resource:Autosomal Recessive Polycystic Kidney Disease Mutation Database

Name: Resource:Autosomal Recessive Polycystic Kidney Disease Mutation Database
Description: 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.
Other Name(s): Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
Parent Organization: RWTH Aachen University; Aachen; Germany
Resource Type(s): Database, Data repository
Resource: Resource
URL: http://www.humgen.rwth-aachen.de/
Old URL(s): http://www.humgen.rwth-aachen.de/index.asp?subform=database.html&nav=database_nav.html
Id: nif-0000-21038
Related condition/disease: Autosomal recessive polycystic kidney disease, Polycystic kidney disease
Availability: Permission required, Terms of use
Address: Department of Human Genetics, RWTH Aachen University, Pauwelsstraße 30, D-52074 Aachen, Germany
Keywords: clinical, gene, genetic, mutation, protein, recessive, renal
Organism: Human
Link to OWL / RDF: Download this content as OWL/RDF

Curation status: Curated

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Facts about Resource:Autosomal Recessive Polycystic Kidney Disease Mutation DatabaseRDF feed
AddressDepartment of Human Genetics  +, RWTH Aachen University  +, Pauwelsstraße 30  +, D-52074 Aachen  +, and Germany  +
AvailabilityPermission required  +, and Terms of use  +
CurationStatuscurated  +
DefiningCitationhttp://www.humgen.rwth-aachen.de/  +
DefinitionCatalog of all changes detected in PKHD1 ( 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.
es displaying diagnostic challenges.
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +, and Data repository  +
Idnif-0000-21038  +
Is part ofRWTH Aachen University; Aachen; Germany  +
KeywordsClinical  +, Gene  +, Genetic  +, Mutation  +, Protein  +, Recessive  +, and Renal  +
LabelResource:Autosomal Recessive Polycystic Kidney Disease Mutation Database  +
ModifiedDate11 August 2014  +
OldURLhttp://www.humgen.rwth-aachen.de/index.asp?subform=database.html&nav=database_nav.html  +
Page has default formThis property is a special property in this wiki.Resource  +
Related diseaseAutosomal recessive polycystic kidney disease  +, and Polycystic kidney disease  +
SpeciesHuman  +
SuperCategoryResource  +
SynonymMutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)  +