Congenital nephrotic syndrome type 03

Hereditary nephrotic syndrome type 3 is an autosomal recessive disorder which presents in early childhood by steroid-resistant nephrotic syndrome and histomorphological findings consistent with mesangial sclerosis or focal and segmental glomerulosclerosis.

Systematic

Nephrotic syndrome
	Congenital nephrotic syndrome type 01 (Finnish type)
	Congenital nephrotic syndrome type 02
	Congenital nephrotic syndrome type 03
		PLCE1
	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
	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.	Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

2.	Morgan AR et al. (2007) Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.

3.	Jefferson JA et al. (2007) Familial nephrotic syndrome: PLCE1 enters the fray.

4.	Copelovitch L et al. (2007) Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS.

5.	Chaib H et al. (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.

6.	Gbadegesin R et al. (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

7.	None (2008) NPHS3: new clues for understanding idiopathic nephrotic syndrome.

8.	Löwik M et al. (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

9.	OMIM.ORG article Omim 610725

Update: June 23, 2025

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