Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 4

Juvenile nephronophthisis 4 is an atosomal recessive disorder characterized by medullary cysts and progressive renal failure.

Systematic

Nephronophthisis
Nephronophthisis 1
Nephronophthisis 10
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 2
Nephronophthisis 3
Nephronophthisis 4
NPHP4
Nephronophthisis 5
Nephronophthisis 6
Nephronophthisis 7
Nephronophthisis 8
Nephronophthisis 9
Nephronophthisis-like nephropathy 1

References:

1.

Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

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2.

Mollet G et al. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.

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3.

Hoefele J et al. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

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Update: Sept. 26, 2018