Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nephrotic syndrome type 08

Congenital nephrotic syndrome type 8 is an autosomal recessive disorder caused by mutations of the ARHGDIA gene.

Systematic

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
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
ARHGDIA
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.

Shibata S et al. (2008) Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease.

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2.

Gupta IR et al. (2013) ARHGDIA: a novel gene implicated in nephrotic syndrome.

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3.

Gee HY et al. (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

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Update: Sept. 26, 2018