Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 1

Juvenile nephronophthisis 1 is an atosomal recessive disorder characterized by medullary cysts and progressive renal failure.

Epidemiology

Juvenile nephronophthisis 1 is the most common of all types of nephronophthisis. It accounts for most of end stage renal disease during childhood and adolescence (6-10%). The incidence is 1:50,000 live births.

Systematic

Nephronophthisis
Nephronophthisis 1
NPHP1
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
Nephronophthisis 5
Nephronophthisis 6
Nephronophthisis 7
Nephronophthisis 8
Nephronophthisis 9
Nephronophthisis-like nephropathy 1

References:

1.

Kiser RL et al. (2004) Medullary cystic kidney disease type 1 in a large Native-American kindred.

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2.

Saunier S et al. (2000) Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

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3.

Hildebrandt F et al. (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.

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Update: Sept. 26, 2018