Charcot-Marie-Tooth disease dominant intermediate E

Rare Disease

MONDO:0013758

Also Known As

CMTDIECharcot-Marie-Tooth disease dominant intermediate ECharcot-Marie-Tooth disease dominant intermediate type ECharcot-Marie-Tooth disease, dominant Intermediate type ECharcot-Marie-Tooth disease-nephropathy syndromeCharcot-Marie-Tooth neuropathy with focal segmental glomerulonephritisautosomal dominant intermediate Charcot-Marie-Tooth disease type ECharcot-Marie-Tooth disease - nephropathyCharcot-Marie-Tooth disease, dominant intermediate E

Definition

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.