Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

Hasegawa K et al. (2014) A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.

external link
3.

Haslam SI et. al. (1998) Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity.

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4.

Orphanet article

Orphanet ID 122800 external link
5.

OMIM.ORG article

Omim 260000 external link
6.

OMIM.ORG article

Omim 613616 external link
Update: Aug. 14, 2020
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