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Steroid-resistant nephrotic syndrome
600995


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Steroid-resistant nephrotic syndrome

Clinical feature: 

Definition: Idiopathic nephrotic syndrome is an autosomal recessive disease caused by mutations of the podocin gene.

Systematic link table: 

Nephrotic syndrome
Congenital nephrotic syndrome of the Finnish type
NPHS1
Congenital nephrotic syndrome, type 3
PLCE1
Donnai-Barrow syndrome
LRP2
Early-onset nephrotic syndrome with diffuse mesangial sclerosis
WT1
Pierson syndrome
LAMB2
Schimke Immunoosseous dysplasia
SMARCAL1
Steroid-resistant nephrotic syndrome
NPHS2

Literature: 

Boute N et al. (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Huber TB et al. (2003) Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.