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Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 8; Issue 2; 17 January 2006 Abstract
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Human polycystic kidney diseases

Bradley K. Yoder, Sharon Mulroy, Hannah Eustace, Catherine Boucher and Richard Sandford

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Table 1. Human polycystic kidney diseases
Disease Defective gene Inheritance Protein Localisation/function
ADPKD PKD1 AD Polycystin-1 Cell–cell adhesion, G-protein- coupled receptor, signal transduction, mechanosensitive cilial ion channel
ADPKD PKD2 AD Polycystin-2 ER calcium-release channel, mechanosensitive cilial ion channel
ARPKD PKHD1 AR Fibrocystin Cilial protein
Meckel syndrome MKS1–3 AR Unknown –
Nephronophthisis I NPHP1 AR Nephrocystin Cilial protein complex/adhesion complex
Nephronophthisis II NPHP2 AR Inversin Cilial protein complex
Nephronophthisis III NPHP3 AR NPHP3 Cilial protein complex
Nephronophthisis IV NPHP4 AR Nephroretinin Cilial protein complex
Bardet–Biedl syndrome BBS1–8 AR BBS1–8 Centrosome/basal body
Transcriptional regulation/ cilial function
Tuberous sclerosis TSC2–PKD1 contiguous gene deletion AD Tuberin mTOR signalling
Von Hippel Lindau disease VHL AD VHL Oxygen-regulated gene expression
RCAD HNF1b AD HNFIb Transcription factor
Oro-facial digital syndrome I OFD1 AD OFD1 Centrosome
MCKD MCKD1 AD Unknown –
MCKD UMOD AD Uromodulin/ Tamm–Horsfall protein Host defence against Escherichia coli, prevention of stone formation, urate transporter
Abbreviations: AD, autosomal dominant; AR autosomal recessive; ADPKD: autosomal dominant polycystic kidney disease; ARPKD, autosomal recessive polycystic kidney disease; ER, endoplasmic reticulum; MCKD, medullary cystic kidney disease; mTOR, ‘mammalian target of rapamycin’; RCAD, renal cysts and diabetes.

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