Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nephrotic syndrome type 10

Congenital nephrotic syndrome type 10 is an autosomal recessive disorder caused by mutations of the EMP2 gene. The nephrotic syndrome manifests before 5 years of age. It may respond to immunosuppressive therapy but often relapses.

Symptoms

Proteinuria
Proteinurie often develops into nephrotic range, it response to immunosuppressive therapy, but often relapses.

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
EMP2
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.

Gee HY et al. (2014) Mutations in EMP2 cause childhood-onset nephrotic syndrome.

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2.

OMIM.ORG article

Omim 615861 [^]
Update: April 29, 2019