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. [^]

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

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

4.	OMIM.ORG article Omim 615244 [^]

Update: May 9, 2019

Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues