Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
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.

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2.

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

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3.

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

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4.

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

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5.

OMIM.ORG article

Omim 609049 [^]
Update: April 29, 2019