Nephronophthisis 5 is an autosomal recessive disorders characterized by medullary cysts and progressive renal failure. It is caused by mutations of the IQCB1 gene.
Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.[^]
Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.[^]
OMIM.ORG articleOmim 609237 [^]