Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 11

Nephronophthisis type 11 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.

Systematic

Nephronophthisis
Nephronophthisis 1
Nephronophthisis 10
Nephronophthisis 11
TMEM67
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.

Boichis H et. al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

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2.

Otto EA et. al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

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Update: Sept. 26, 2018