Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Senior-Loken syndrome 5

Senior-Loken syndrome 5 is an autosomal recessive disorders caused by mutations of the IQCB1 gene. It is characterized by medullary cysts and progressive renal failure and Leber congenital amaurosis.

Systematic

Senior-Loken syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 3
Senior-Loken syndrome 4
Senior-Loken syndrome 5
IQCB1
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Senior-Loken syndrome 8
Senior-Loken syndrome 9

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.

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2.

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

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3.

OMIM.ORG article

Omim 609254 [^]
Update: April 29, 2019