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.

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

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

4.	OMIM.ORG article Omim 256100

5.	Wikipedia article Wikipedia EN (Nephronophthisis)