Table 1

Genetic causes of glomerular disease, arranged by site affected in glomerulus (see figure 1)

Site affected in glomerulusDiseaseGeneGene productInheritancePhenotype OMIM number
Podocyte slit diaphragmCongenital nephrotic syndromeNPHS1NephrinAutosomal recessive256300
Podocyte slit diaphragmFSGSNPHS2PodocinAutosomal recessive600995
Podocyte actin cytoskeletonFSGSACTN4α-actinin-4Autosomal dominant603278
Podocyte calcium fluxFSGSTRPC6Cation channel C6Autosomal dominant603965
Podocyte nuclear proteinsDenys-Drash syndrome, WAGR syndrome, Frasier syndromeWT1Wilm's tumour 1Autosomal dominant194080
Type IV collagen, basement membraneAlport syndromeCOL4A5α5 chain, type IV collagenX-Linked (most commonly*)301050
Glomerular basement membranePierson's syndromeLAMB2Laminin-β2Autosomal recessive609049
Transcription factor regulating podocyte genesNail Patella syndromeLMX1BLMX1B transcription factorAutosomal dominant161200
  • See diagram in figure 1 for site affected in glomerulus.

  • This is not a complete list but a list of the more common genetic causes of glomerular disease, see references for a more comprehensive list.8 ,10 ,11 ,29

  • *Alport syndrome may also less commonly be inherited in an autosomal recessive pattern with mutations in COL4A3 and COL4A4.

  • FSGS, focal segmental glomerulosclerosis; OMIM, Online Mendelian Inheritance in Man; WAGR, wilms tumour aniridia genitourinary anomalies and mental retardation.