DISEASES

Disease-gene associations mined from literature

Human genes for nephrotic syndrome type 5

Nephrotic syndrome type 5 [DOID:0080380]

A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.

Synonyms:  nephrotic syndrome type 5,  DOID:0080380,  nephrotic syndrome type 5, with or without ocular abnormalities,  nephrotic syndrome type 5 with or without ocular abnormalities,  with or without ocular abnormalities nephrotic syndrome type 5