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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… 
National Institutes of Health

Related topics

Related topics

24 relations
Autosomal recessive inheritanceDehydrationEsophageal VaricesHepatic cysts

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
2006
Review
2006
Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes… 
Highly Cited
2005
Highly Cited
2005
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of liver‐ and renal‐related morbidity and mortality… 
Highly Cited
2003
Highly Cited
2003
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with… 
Highly Cited
2002
Highly Cited
2002
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.
Autosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in infants and children. By… 
2001
2001
Role of CFTR in autosomal recessive polycystic kidney disease.
An extensive body of in vitro data implicates epithelial chloride secretion, mediated through cystic fibrosis transmembrane… 
Review
2001
Review
2001
Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?
Data from animal and human studies suggest that the rate of progression of renal insufficiency can be retarded with careful… 
Highly Cited
1999
Highly Cited
1999
Genetic analysis of leaf form mutants from the Arabidopsis Information Service collection
Abstract Although a vast inventory of morphological mutants of Arabidopsis thaliana is available, only some have been used for… 
Highly Cited
1985
Highly Cited
1985
Consistent deficiencies of chromosome 18 and of the short arm of chromosome 17 in eleven cases of human large bowel cancer: a possible recessive determinism.
Cytogenetic study of 11 cases of colorectal carcinoma was performed after R-banding. In all instances, there was a rearrangement… 
Highly Cited
1979
Highly Cited
1979
Genetic control of severe pre-eclampsia.
A genetic analysis has been made of published and new data on the familial occurrence of severe pre-eclampsia in primigravid… 
Highly Cited
1955
Highly Cited
1955
PHENOTYPES AND GENOTYPES IN CYSTINURIA
Quantitative data are presented on the cystine, lysine and arginine excretion in patients with cystine stone formation and in… 
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