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microcoria-congenital nephrotic syndrome (Pierson syndrome)
Genetics:
- associated with defects in LAMB2
- disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome
Clinical manifestations:
- nephrotic syndrome
- neonatal onset
- diffuse mesangial sclerosis
- eye abnormalities with microcoria (major clinical feature)
- death usually occurs within the first weeks of life
General
congenital nephrotic syndrome
References
UniProt :accession P55268