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

Nephronophthisis 16

Nephronophthisis type 16 is an autosomal recessive disorder caused by mutations in the IFT172 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
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
ANKS6
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 20
Nephronophthisis-like nephropathy 1

References:

1.

Hoff S et al. (2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.

external link
2.

OMIM.ORG article

Omim 615382 external link
Update: Aug. 14, 2020
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