Autosomal Recessive Polycystic Kidney Disease

Known as: Polycystic Kidney Disease, Autosomal Recessive, POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1, Polycystic Kidney Disease, Infantile, Type I 
A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious… (More)
National Institutes of Health

Related topics

Related topics

24 relations
Autosomal recessive inheritanceDehydrationEsophageal VaricesHepatic cysts
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Broader (1)

Cystic kidney

Narrower (2)

Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and BrachymeliaPolycystic kidneys, severe infantile with tuberous sclerosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2009
Review
2009
Polycystic kidney disease.
A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney… (More)
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Review
2007
Review
2007
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.
The phenotypes that are associated with the common forms of polycystic kidney disease (PKD)--autosomal dominant (ADPKD) and… (More)
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Highly Cited
2003
Highly Cited
2003
Autosomal recessive polycystic kidney disease: the clinical experience in North America.
OBJECTIVE We designed a longitudinal clinical database for autosomal recessive polycystic kidney disease (ARPKD), recruited… (More)
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Highly Cited
2003
Highly Cited
2003
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity… (More)
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Highly Cited
2002
Highly Cited
2002
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis… (More)
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Highly Cited
2002
Highly Cited
2002
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia.
Recent evidence has suggested an association between structural and/or functional defects in the primary apical cilium of… (More)
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Highly Cited
2001
Highly Cited
2001
An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons
In this report, we show that the Caenorhabditis elegans gene osm-5 is homologous to the Chlamydomonas gene IFT88 and the mouse… (More)
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Highly Cited
2000
Highly Cited
2000
Chlamydomonas IFT88 and Its Mouse Homologue, Polycystic Kidney Disease Gene Tg737, Are Required for Assembly of Cilia and Flagella
Intraflagellar transport (IFT) is a rapid movement of multi-subunit protein particles along flagellar microtubules and is… (More)
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Highly Cited
1998
Highly Cited
1998
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have introduced a mutant exon 1 in tandem with… (More)
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Review
1992
Review
1992
Autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease is a rare inherited disorder which usually becomes clinically manifest in early… (More)
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