Table 1.

Cilia-associated Human Cystic Kidney Disease Genes and Clinical Features

Disease	Gene(s)	Clinical features
Autosomal Dominant Polycystic Kidney Disease (ADPKD)	PKD1 PKD2	Renal cysts (all nephron segments) Hepatic, pancreatic and seminal vesicle cysts Aortic and cerebral aneurysms Intestinal diverticuli
Autosomal Recessive Polycystic Kidney Disease (ARPKD)	PKHD1	Renal cysts (collecting tubule) Congenital hepatic fibrosis
Juvenile Nephronophthisis (JN)	NPHP 1-11 GLIS2 NEK8 CEP164 TMEM67 TTC21B WDR19 ZNF423 ANKS6 CEP83	Renal cysts (corticomedullary) Ocular changes (e.g. Senior-Loken syndrome/Retinitis pigmentosa, variable, based on gene) Congenital hepatic fibrosis (variable based on gene) Situs inversus (variable based on gene)
Joubert syndrome (with renal disease, JS-Ren)	RPGRIP1L CC2D2A CEP290 NPHP1 AHI1 TMEM216 TMEM138 TMEM237 OFD1	Renal cysts Hypotonia Developmental delays Cerebellar vermis hypoplasia Retinal disease (variable)
Bardet-Biedl Syndrome (BBS)	BBS 1-12 MKS1 MKS3 CEP290 SDCCAG8 SEPT7	Renal cysts Cognitive delays Truncal obesity Postaxial polydactyly
Oro-facial digital syndrome type I (OFD1)	OFD1	Renal cysts Polydactyly, syndactyly Cleft lip/palate Dental abnormalities CNS abnormalities (e.g. agenesis of the corpus colloasum) Developmental delays
Jeune syndrome/Short rib thoracic dysplasia	IFT80 IFT 140 DYNC2H1 TTC21B WDR19 WDR60 NEK1	Renal cysts Long, narrow thorax Short stature Retinitis pigmentosa Congenital hepatic fibrosis Polydactyly (variable)
Meckel-Gruber syndrome (MGS)	MKS1-11 CEP290 NPHP3 RPGRIP1L CC2D2A TCTN2 B9D1 B9D2 TMEM67 TMEM216 TMEM231	Renal cysts Occipital encephalocele and other CNS malformations Postaxial polydactyly Bile duct proliferation and dilatation

Generated from information provided by Gene Reviews® (http://www.ncbi.nlm.nih.gov/books/NBK1116) and OMIM (http://www.ncbi.nlm.nih.gov/omim). Accessed November 9, 2014.