Nephronophthisis 05

Nephronophthisis 5 is an autosomal recessive disorders characterized by medullary cysts and progressive renal failure. It is caused by mutations of the IQCB1 gene.

Systematic

Nephronophthisis
	Nephronophthisis 01
	Nephronophthisis 02
	Nephronophthisis 03
	Nephronophthisis 04
	Nephronophthisis 05
		IQCB1
	Nephronophthisis 06
	Nephronophthisis 07
	Nephronophthisis 08
	Nephronophthisis 09
	Nephronophthisis 10
	Nephronophthisis 11
	Nephronophthisis 12
	Nephronophthisis 13
	Nephronophthisis 14
	Nephronophthisis 15
	Nephronophthisis 16
	Nephronophthisis 17
	Nephronophthisis 18
	Nephronophthisis 19
	Nephronophthisis 20
	Nephronophthisis-like nephropathy 1

References:

1.	Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

2.	Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

3.	OMIM.ORG article Omim 609237

Update: June 23, 2025

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