Congenital nephrotic syndrome type 14

Congenital nephrotic syndrome type 14 is an autosomal recessive disorder caused by mutations of the SGPL1 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
	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
	Congenital nephrotic syndrome type 14
		SGPL1
	Congenital nephrotic syndrome type 15
	Congenital nephrotic syndrome type 16
	Congenital nephrotic syndrome type 17
	Congenital nephrotic syndrome type 18
	Congenital nephrotic syndrome type 19
	Congenital nephrotic syndrome type 20
	Congenital nephrotic syndrome type 21
	Congenital nephrotic syndrome type 22
	Congenital nephrotic syndrome type 23
	Congenital nephrotic syndrome type 24
	Donnai-Barrow syndrome
	GPC5
	Glomerulotubular nephropathy
	Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
	Lipoprotein glomerulopathy
	Schimke Immunoosseous dysplasia
	XPO5

References:

1.	Ram N et al. (2012) A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.

2.	Schreyer-Shafir N et al. (2014) Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease.

3.	Lovric S et al. (2017) Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

4.	Prasad R et al. (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

5.	Janecke AR et al. (2017) Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Update: Nov. 3, 2022

Copyright © 2005-2024 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 | Website Credits