Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Congenital nephrotic syndrome type 04

Early-onset nephrotic syndrome with diffuse mesangial sclerosis is a familial congenital nephrotic syndrome caused by mutations of the Wilms tumour 1 gene. Inheritance is autosomal dominant.

Symptoms

Proteinuria
Proteinuria in NPHS4 is accompanied by mesangial sclerosis and possibly abnormalities of sexual organ development.

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
WT1
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
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.

Takata A et al. (2000) Constitutional WT1 correlate with clinical features in children with progressive nephropathy.

external link
2.

Ito S et al. (2001) Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene.

external link
3.

Ohtaka A et al. (2002) Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm?

external link
4.

Ito S et al. (2003) Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study.

external link
5.

Mendelsohn HB et al. (1982) Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred.

external link
6.

Jeanpierre C et al. (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

external link
7.

OMIM.ORG article

Omim 256370 external link
Update: Aug. 14, 2020
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