Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nephrotic syndrome type 01 (Finnish type)

Finnish congenital nephrosis is an autosomal recessive disease caused by mutations of the nephrin gene.

Systematic

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
NPHS1
Congenital nephrotic syndrome type 02
Congenital nephrotic syndrome type 03
Congenital nephrotic syndrome type 04
Congenital nephrotic syndrome type 05 (Pierson syndrome)
Congenital nephrotic syndrome type 06
Congenital nephrotic syndrome type 07
Congenital nephrotic syndrome type 08
Congenital nephrotic syndrome type 09
Congenital nephrotic syndrome type 10
Congenital nephrotic syndrome type 11
Congenital nephrotic syndrome type 12
Congenital nephrotic syndrome type 13
Donnai-Barrow syndrome
GPC5
Glomerulotubular nephropathy
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Lipoprotein glomerulopathy
Schimke Immunoosseous dysplasia
XPO5

References:

1.

Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

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2.

Aya K et al. (2000) Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

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3.

Beltcheva O et al. (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

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4.

Liu L et al. (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

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5.

Liu G et al. (2003) Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.

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6.

Wartiovaara J et al. (2004) Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.

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7.

Jones N et al. (2006) Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes.

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8.

Lenkkeri U et al. (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

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9.

OMIM.ORG article

Omim 256300 [^]
Update: April 29, 2019