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Polycystic Kidney, Autosomal Recessive

More information in Books or onNLM PubMed
Definition: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.      Other names Polycystic Kidney Disease, Infantile, Type I; Kidney, Polycystic, Autosomal Recessive; Autosomal Recessive Polycystic Kidney Disease; Autosomal Recessive Polycystic Kidney; Polycystic Kidney and Hepatic Disease 1 (Autosomal; Polycystic Kidney and Hepatic Disease 1; Polycystic Kidney Disease, Infantile, Type 1; Polycystic Kidney Disease, Autosomal Recessive; ARPKD
 
SubstanceCAS Registry & nameCategoriesSource
Renal dysplasia diffuse cystic  0   *Polycystic Kidney, Autosomal Recessive.
Polycystic kidneys, severe infantile with tuberous sclerosis  0   *Tuberous Sclerosis *Polycystic Kidney, Autosomal Recessive.
Tg737Rpw protein, mouse  0   *Tumor Suppressor Proteins Polycystic Kidney, Autosomal Recessive.
Pkhd1 protein, mouse  0   *Receptors, Cell Surface Polycystic Kidney, Autosomal Recessive. J Clin Invest 2004 Mar;113(6):814-25
PKHD1 protein, rat  0   *Receptors, Cell Surface Polycystic Kidney, Autosomal Recessive. Gastroenterology 2003 Nov;125(5):1303-10
fibrocystin -L, human  0   *Receptors, Cell Surface Polycystic Kidney, Autosomal Recessive. Hum Mol Genet 2003 Mar 15;12(6);685-98
PKHD1 protein, human  0   *Receptors, Cell Surface Polycystic Kidney, Autosomal Recessive. Nat Genet 2002 Mar;30(3):259-69
IFT88 protein, human  0   *Tumor Suppressor Proteins Polycystic Kidney, Autosomal Recessive. Development 2001 May;128(9):1493-505; Hum Mol Genet 1995 Apr;4(4):559-67

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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