Congenital nephrotic syndrome type 05 (Pierson syndrome)

Microcoria-congenital nephrotic syndrome is an autosomal recessive disorder caused by mutations of laminin beta-2, an essential component of mature glomerular laminin located in the glomerular basement membrane. The clinical course is characterized by severe proteinuria and early death.

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)
		LAMB2
	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.	Zenker M et al. (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

2.	None (2006) The glomerular basement membrane: not gone, just forgotten.

3.	Hasselbacher K et al. (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

4.	Glastre C et al. (1990) Familial infantile nephrotic syndrome with ocular abnormalities.

5.	OMIM.ORG article Omim 609049

Update: June 23, 2025

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