Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 01

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 01
NPHP1
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
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 20
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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4.

OMIM.ORG article

Omim 256100 [^]
5.

Wikipedia article

Wikipedia EN (Nephronophthisis) [^]
Update: April 29, 2019