The exact genetic defect in<unk>  is yet to be discovered. However, mutations in podocyte proteins, such as nephrin, alpha-actinin 4, and podocin, are associated with proteinuria and nephrotic syndrome. There is reduced expression of synaptopodin, GLEPP1, and nephrin in<unk> , but these are likely secondary to the proteinuria, likely not the proteins mutated in<unk> . The biochemical lesion appears to be in the Kinase, Endopeptidase and Other Proteins of small Size (KEOPS)/Endopeptidase-like and Kinase associated to transcribed Chromatin (EKC) (KEOPS/EKC) complex. Sequencing of genes in 37 cases of this condition revealed mutations in the OSGEP, TP53RK, TPRKB and LAGE3 genes all of which encode subunits in the KEOPS complex. Members of this complex are found in bacteria, archaea and eukaryotes and are highly conserved. The function of this complex is still under investigation. The biochemical lesion in this condition appears to be in the N6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNA pathway. This pathway uses two sequentially acting enzymes - YRDC and OSGEP. Mutations in these genes leads to this syndrome.
Galloway Mowat syndrome
Hapnes Boman Skeie syndrome
Schimmelpenning syndrome
Zieve's syndrome
Muir–Torre syndrome
Lyngstadaas syndrome
Gómez–López-Hernández syndrome
Mungan syndrome