Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 13

Nephronophthisis type 13 is an autosomal recessive disorder caused by mutations in the WDR19 gene.

Systematic

Nephronophthisis
Nephronophthisis 01
Nephronophthisis 02
Nephronophthisis 03
Nephronophthisis 04
Nephronophthisis 05
Nephronophthisis 06
Nephronophthisis 07
Nephronophthisis 08
Nephronophthisis 09
Nephronophthisis 10
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
WDR19
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 20
Nephronophthisis-like nephropathy 1

References:

1.

Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

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2.

Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

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3.

OMIM.ORG article

Omim 614377 [^]
Update: April 29, 2019