Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

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

external link
3.

OMIM.ORG article

Omim 609237 external link
Update: Aug. 14, 2020
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