disease has basis in dysfunction of INF2 Charcot-Marie-Tooth disease dominant intermediate E Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. CMTDIE Charcot-Marie-Tooth disease - nephropathy Charcot-Marie-Tooth disease dominant intermediate type E Charcot-Marie-Tooth disease, dominant Intermediate type E Charcot-Marie-Tooth disease, dominant intermediate E Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis DOID:0110205 GARD:0012011 ICD10:G60.0 MONDO:0013758 Not in the OMIM series. OMIM:614455 Orphanet:93114 SCTID:722294004 UMLS:C3280845 UMLS:C4302667 autosomal dominant intermediate Charcot-Marie-Tooth disease type E primary glomerular disease autosomal dominant intermediate Charcot-Marie-Tooth disease