has material basis in germline mutation in INF2 Charcot-Marie-Tooth disease dominant intermediate E https://www.malacards.org/card/charcot_marie_tooth_disease_dominant_intermediate_e Charcot-Marie-Tooth disease-nephropathy syndrome DOID:0110205 UMLS:C4302667 Charcot-Marie-Tooth disease dominant intermediate type E MEDGEN:928336 Charcot-Marie-Tooth disease, dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis Not in the OMIM series. Charcot-Marie-Tooth disease - nephropathy CMTDIE autosomal dominant intermediate Charcot-Marie-Tooth disease type E Charcot-Marie-Tooth disease, dominant Intermediate type E Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized 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. Orphanet:93114 OMIM:614455 SCTID:722294004 GARD:0012011 MONDO:0013758 autosomal dominant intermediate Charcot-Marie-Tooth disease