Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 10

Nephronophthisis type 10 is an autosomal recessive disorder caused by mutations in the SDCCAG8 gene.

Systematic

Nephronophthisis
Nephronophthisis 1
Nephronophthisis 10
SDCCAG8
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 2
Nephronophthisis 3
Nephronophthisis 4
Nephronophthisis 5
Nephronophthisis 6
Nephronophthisis 7
Nephronophthisis 8
Nephronophthisis 9
Nephronophthisis-like nephropathy 1

References:

1.

Chaki M et. al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

[^]
2.

Otto EA et. al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

[^]
3.

Billingsley G et. al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

[^]
Update: Sept. 26, 2018